Mitochondrial - Metabolic Genetic Testing

Mitochondrial Disorders

MitoXpanded Panel

Forms and Documents

Test Details

4-SEP, AAAS, AADAT, AARS, AARS2, AASS, ABAT, ABCA13, ABCA4, ABCA9, ABCB10, ABCB11, ABCB4, ABCB6, ABCB7, ABCB8, ABCB9, ABCC9, ABCD1, ABCD2, ABCD3, ABCD4, ABCF2, ABHD10, ABHD11, ACAA1, ACAA2, ACACA, ACACB, ACAD10, ACAD11, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACAT2, ACCS, ACE, ACLY, ACN9, ACO1, ACO2, ACOT13, ACOT2, ACOT7, ACOT9, ACOX1, ACOX3, ACP6, ACR, ACSF2, ACSF3, ACSL1, ACSL4, ACSL5, ACSL6, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM4, ACSM5, ACSS1, ACSS3, ACTA1, ACTB, ACTG2, ACTR5, ACYP2, ADAR, ADCK1, ADCK2, ADCK3, ADCK4, ADCK5, ADCY5, ADHFE1, ADNP, ADSL, AFF4, AFG3L2, AGBL5, AGK, AGL, AGMAT, AGPAT4, AGPAT5, AGPS, AGR2, AGXT, AGXT2, AHCY, AHCYL1, AHDC1, AHI1, AIFM1, AIFM2, AIFM3, AIMP1, AK2, AK3, AK4, AKAP1, AKAP10, AKR1B10, AKR1B15, AKR1D1, AKR7A2, ALAS1, ALAS2, ALDH18A1, ALDH1B1, ALDH1L1, ALDH1L2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDH9A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH1, ALKBH3, ALKBH7, ALMS1, AMACR, AMT, ANGEL2, ANO10, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APEX2, APOA1BP, APOC3, APOO, APOOL, APOPT1, APTX, ARF5, ARG1, ARG2, ARHGEF9, ARID1B, ARID2, ARL13B, ARL2, ARL6, ARMC10, ARSA, ARX, ASL, ASNS, ASPA, ASS1, ASXL1, ASXL3, ATAD1, ATAD3A, ATAD3B, ATF5, ATIC, ATL1, ATP10D, ATP13A2, ATP1A2, ATP1A3, ATP2A1, ATP2A2, ATP2C1, ATP5A1, ATP5B, ATP5C1, ATP5D, ATP5E, ATP5F1, ATP5G1, ATP5G2, ATP5G3, ATP5H, ATP5I, ATP5J, ATP5J2, ATP5L, ATP5O, ATP5S, ATP5SL, ATP6V0A2, ATP6V0A4, ATP6V1B1, ATP7A, ATP7B, ATP8B1, ATPAF1, ATPAF2, ATPIF1, ATRX, AUH, AURKAIP1, AUTS2, B4GALNT1, B4GALT1, B9D1, BAD, BAG3, BAK1, BBOX1, BBS2, BCAP31, BCAT1, BCAT2, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL2L1, BCL2L13, BCL2L2, BCS1L, BDH1, BEST1, BHMT, BID, BIN1, BLOC1S1, BNIP3, BNIP3L, BOLA1, BOLA3, BPHL, BRAT1, BRD2, BRPF1, BSCL2, BTD, C10ORF10, C10orf2, C12ORF10, C12ORF65, C14ORF159, C14ORF2, C15ORF40, C15ORF48, C15ORF61, C17ORF89, C19orf12, C19ORF52, C19ORF66, C19ORF70, C1QBP, C20ORF24, C21ORF33, C2ORF47, C2ORF69, C2ORF71, C3ORF33, C5orf42, C6ORF136, C6ORF203, C6ORF57, C7ORF55, C8ORF37, C8ORF82, CA4, CA5A, CA5B, CACNA1A, CACNA1E, CACNA1F, CACNA1G, CACNA2D1, CAD, CALM2, CAMTA1, CAPN3, CARKD, CARS2, CASK, CASQ2, CAT, CBL, CBR3, CBR4, CBS, CC2D2A, CCBL2, CCDC109B, CCDC127, CCDC51, CCDC58, CCDC78, CCDC90B, CCT5, CCT7, CDC25C, CDHR1, CDK1, CDKL5, CECR5, CEP164, CEP290, CEP41, CEP89, CERKL, CFHR1, CFL2, CHAMP1, CHAT, CHCHD1, CHCHD3, CHCHD4, CHCHD5, CHCHD6, CHCHD7, CHD2, CHDH, CHKB, CHPT1, CHRM3, CHRNB1, CISD1, CISD2, CISD3, CKB, CKM, CKMT2, CLCN1, CLCN2, CLCNKB, CLDN3, CLIC4, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CLPX, CLRN1, CLYBL, CMC1, CMC2, CMC4, CMPK2, CNGA1, CNGB1, CNGB3, CNTN1, CNTNAP1, CNTNAP2, COA1, COA3, COA4, COA5, COA6, COA7, COASY, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COL12A1, COL1A2, COL27A1, COL4A1, COL5A2, COL6A1, COL6A2, COL6A3, COMTD1, COQ10A, COQ10B, COQ2, COQ3, COQ4, COQ5, COQ6, COQ7, COQ9, COX10, COX11, COX14, COX15, COX16, COX17, COX18, COX19, COX20, COX4I1, COX4I2, COX5A, COX5B, COX6A1, COX6A2, COX6B1, COX6B2, COX6C, COX7A1, COX7A2, COX7A2L, COX7B, COX7B2, COX7C, COX8A, COX8C, CP, CPOX, CPS1, CPSF4, CPT1A, CPT1B, CPT1C, CPT2, CRAT, CRB1, CREBBP, CRLS1, CROT, CRY1, CRYZ, CS, CSF1R, CSPP1, CTBP1, CTCF, CTLA4, CTNNB1, CTPS2, CTSD, CUL4B, CYB5A, CYB5B, CYB5R1, CYB5R2, CYB5R3, CYC1, CYCS, CYP11A1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, CYP2U1, CYP7B1, D2HGDH, DAG1, DAP3, DARS, DARS2, DBI, DBT, DCAKD, DDAH1, DDC, DDHD1, DDHD2, DDOST, DDX28, DDX3X, DECR1, DES, DGUOK, DHCR24, DHDDS, DHODH, DHRS1, DHRS4, DHRS7B, DHRSX, DHTKD1, DHX30, DIABLO, DIAPH1, DLAT, DLD, DLST, DMD, DMGDH, DNA2, DNAJA3, DNAJC11, DNAJC12, DNAJC15, DNAJC19, DNAJC28, DNAJC30, DNAJC4, DNAJC6, DNM1, DNM1L, DNM2, DNMT1, DOK7, DOLK, DPAGT1, DPM1, DPM3, DPYD, DSG2, DTYMK, DUS2, DUSP26, DUT, DYNC1H1, DYRK1A, DYSF, EARS2, ECH1, ECHDC1, ECHDC2, ECHDC3, ECHS1, ECI1, ECI2, ECSIT, EEF1A2, EEFSEC, EFHD1, EHHADH, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF5AL1, ELAC2, ELOF1, EMC1, EMC2, EME2, ENDOG, ENO3, EP300, EPG5, EPHX2, ERAL1, ERCC2, ERCC6L2, ERLIN2, ETFA, ETFB, ETFDH, ETHE1, EXOG, EXOSC3, EYA4, EYS, EZH2, FA2H, FABP1, FAH, FAHD1, FAHD2A, FAM126A, FAM136A, FAM161A, FAM162A, FAM185A, FAM195A, FAM210A, FAM210B, FAM213A, FANCA, FARS2, FASN, FASTK, FASTKD1, FASTKD2, FASTKD3, FASTKD5, FBN1, FBP1, FBXL4, FDPS, FDX1, FDX1L, FDXR, FECH, FH, FHIT, FHL1, FIG4, FIS1, FKBP10, FKBP8, FKRP, FKTN, FLAD1, FLNC, FOLR1, FOXP1, FOXRED1, FPGS, FSCN2, FTH1, FTMT, FTSJ2, FUNDC1, FUNDC2, FXN, G6PC, GAA, GABRA1, GABRB2, GABRB3, GAD1, GAD2, GADD45GIP1, GALC, GAMT, GAPDH, GARS, GATAD1, GATAD2B, GATB, GATC, GATM, GBA2, GBAS, GBE1, GCAT, GCDH, GCH1, GCSH, GDAP1, GFAP, GFER, GFM1, GFM2, GHITM, GIMAP5, GJB1, GJB2, GJC2, GK, GLA, GLB1, GLDC, GLOD4, GLRX2, GLRX5, GLS, GLS2, GLUD1, GLYAT, GLYCTK, GMPPA, GMPPB, GNAO1, GNB1, GNG5, GOLPH3, GOT2, GPAM, GPD1, GPD2, GPI, GPT2, GPX1, GPX4, GRHPR, GRIN1, GRIN2A, GRIN2B, GRPEL1, GRPEL2, GRSF1, GSR, GSS, GSTK1, GSTO1, GSTZ1, GTPBP10, GTPBP3, GTPBP6, GUCA1B, GUF1, GUK1, GYG1, GYG2, GYS1, GYS2, HAAO, HADH, HADHA, HADHB, HAGH, HAO2, HARS2, HCCS, HCFC1, HCN1, HDHD3, HEBP1, HECW2, HEMK1, HEPACAM, HEXA, HGSNAT, HIBADH, HIBCH, HIGD1A, HIGD2A, HINT1, HINT2, HINT3, HIVEP2, HK1, HK2, HLCS, HMBS, HMGCL, HMGCS2, HNF1A, HNF4A, HNRNPK, HNRNPU, HOGA1, HRSP12, HSCB, HSD17B10, HSD17B4, HSD17B8, HSD3B7, HSDL1, HSDL2, HSPA9, HSPB7, HSPD1, HSPE1, HTATIP2, HTRA2, HUWE1, IARS2, IBA57, ICT1, IDE, IDH1, IDH2, IDH3A, IDH3B, IDH3G, IDI1, IFI27, IFIH1, IFT172, IGHMBP2, IL1RAPL1, IMMP1L, IMMP2L, IMMT, IMPDH1, IMPG2, INPP5E, INSR, IQSEC2, ISCA1, ISCA2, ISCU, ISOC2, ITGA7, ITPR1, IVD, JUP, KANSL1, KARS, KAT6A, KAT6B, KAT8, KBTBD13, KCNA2, KCNC1, KCNC3, KCNJ10, KCNQ1, KCNQ2, KCNQ3, KCNT1, KCNV2, KDM5C, KDSR, KIAA0100, KIAA0141, KIAA0196, KIAA0391, KIAA1279, KIAA2022 (NEXMIF), KIF1A, KIF1B, KIF1C, KIF21A, KIF22, KIF5A, KIF7, KITLG, KIZ, KLHL7, KMO, KMT2A (MLL), KMT2D, KRT5, KYNU, L1CAM, L2HGDH, LACE1, LACTB, LACTB2, LAMA2, LAMC1, LAMP2, LAP3, LARS, LARS2, LDHA, LDHAL6B, LDHB, LDHD, LETM1, LETM2, LETMD1, LIAS, LIPA, LIPT1, LIPT2, LMBRD1, LMNA, LONP1, LONP2, LRAT, LRPPRC, LYPLA1, LYPLAL1, LYRM1, LYRM2, LYRM4, LYRM5, LYRM7, LYRM9, MACROD1, MAGEL2, MAK, MALSU1, MAOA, MAOB, MAP2K1, MAP3K7, MARS, MARS2, MAVS, MCAT, MCCC1, MCCC2, MCEE, MCOLN1, MCU, MCUR1, MDH1, MDH2, ME1, ME2, ME3, MECP2, MECR, MEF2C, MEFV, MEGF10, MEIS2, MERTK, METAP1D, METTL14, METTL15, METTL17, METTL20, METTL5, METTL8, MFF, MFN1, MFN2, MFSD8, MGARP, MGAT2, MGME1, MGST1, MGST3, MICU1, MICU2, MIEF1, MIEF2, MINOS1, MIPEP, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCOS, MOCS1, MOCS2, MOCS3, MOGS, MORC2, MPC1, MPC2, MPDU1, MPDZ, MPI, MPST, MPV17, MPV17L, MPV17L2, MPZL3, MRM1, MRPL1, MRPL10, MRPL11, MRPL12, MRPL13, MRPL14, MRPL15, MRPL16, MRPL17, MRPL18, MRPL19, MRPL2, MRPL20, MRPL21, MRPL22, MRPL23, MRPL24, MRPL27, MRPL28, MRPL3, MRPL30, MRPL32, MRPL33, MRPL34, MRPL35, MRPL36, MRPL37, MRPL38, MRPL39, MRPL4, MRPL40, MRPL41, MRPL42, MRPL43, MRPL44, MRPL45, MRPL46, MRPL47, MRPL48, MRPL49, MRPL50, MRPL51, MRPL52, MRPL53, MRPL54, MRPL55, MRPL57, MRPL9, MRPS10, MRPS11, MRPS12, MRPS14, MRPS15, MRPS16, MRPS17, MRPS18A, MRPS18B, MRPS18C, MRPS2, MRPS21, MRPS22, MRPS23, MRPS24, MRPS25, MRPS26, MRPS27, MRPS28, MRPS30, MRPS31, MRPS33, MRPS34, MRPS35, MRPS36, MRPS5, MRPS6, MRPS7, MRPS9, MRRF, MRS2, MSRA, MSRB2, MSRB3, MSTO1, MTCH1, MTCH2, MTCP1, MTERF1, MTERF2, MTERF3, MTERF4, MTFMT, MTFP1, MTFR1, MTFR1L, MTG1, MTG2, MTHFD1, MTHFD1L, MTHFD2, MTHFD2L, MTHFR, MTHFS, MTIF2, MTIF3, MTM1, MTO1, MTPAP, MTR, MTRF1, MTRF1L, MTRR, MTTP, MTX1, MTX2, MUL1, MUT, MYBPC3, MYH14, MYH2, MYH6, MYH7, MYL2, MYO6, MYT1L, N6AMT1, NAA10, NADK2, NAGS, NALCN, NARS2, NBAS, NCEH1, NDRG1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA3, NDUFA4, NDUFA5, NDUFA6, NDUFA7, NDUFA8, NDUFA9, NDUFAB1, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB1, NDUFB10, NDUFB11, NDUFB2, NDUFB3, NDUFB4, NDUFB5, NDUFB6, NDUFB7, NDUFB8, NDUFB9, NDUFC1, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEB, NEFL, NEK2, NEK9, NEU4, NF1, NFE2L2, NFIA, NFS1, NFU1, NGLY1, NGRN, NHLRC1, NHS, NIF3L1, NIPA1, NIPSNAP1, NIPSNAP3A, NIPSNAP3B, NIT1, NIT2, NKX2-1, NLN, NLRC4, NLRP3, NLRX1, NME3, NME4, NME6, NMNAT3, NNT, NOA1, NOTCH1, NOTCH3, NPC1, NPHP1, NPHP3, NPL, NR2E3, NR2F1, NR3C2, NRD1, NRF1, NRL, NRXN1, NSD1, NSUN3, NSUN4, NT5C, NT5C2, NT5DC2, NT5DC3, NT5M, NUBPL, NUCB2, NUDT13, NUDT19, NUDT2, NUDT5, NUDT6, NUDT8, NUDT9, OAT, OBSCN, OCIAD1, OCIAD2, OFD1, OGDH, OGDHL, OPA1, OPA3, OPHN1, OPN1LW, OSBPL1A, OSGEPL1, OTC, OXA1L, OXCT1, OXCT2, OXLD1, OXNAD1, OXR1, OXSM, P2RX2, P4HB, PABPC5, PABPN1, PACS1, PACSIN2, PAH, PAICS, PAK7, PAM16, PANK2, PARL, PARS2, PC, PCBD1, PCBD2, PCCA, PCCB, PCDH19, PCK1, PCK2, PCSK9, PDE12, PDE6A, PDE6B, PDE6G, PDF, PDGFRB, PDHA1, PDHA2, PDHB, PDHX, PDK1, PDK2, PDK3, PDK4, PDP1, PDP2, PDPR, PDSS1, PDSS2, PET100, PET117, PEX1, PEX10, PEX11A, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX5L, PEX6, PEX7, PFKM, PGAM2, PGAM5, PGK1, PGM1, PGS1, PHB2, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PI4KA, PICK1, PIEZO2, PIF1, PIGA, PIGB, PIGC, PIGF, PIGG, PIGH, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIGX, PIGY, PIGZ, PISD, PITRM1, PKLR, PLA2G6, PLCB1, PLCE1, PLGRKT, PLP1, PMAIP1, PMM2, PMP22, PMPCA, PMPCB, PNKP, PNPLA2, PNPLA6, PNPLA8, PNPO, PNPT1, POC1A, POGZ, POLDIP2, POLG, POLG2, POLR3A, POLR3B, POLRMT, POMGNT1, PPA2, PPARGC1A, PPARGC1B, PPIF, PPM1K, PPOX, PPP2R1A, PPP2R5D, PPT1, PPTC7, PPWD1, PRCD, PRDM16, PRDX2, PRDX3, PRDX4, PRDX5, PRDX6, PRELID1, PRELID2, PREPL, PRKAA1, PRKAB1, PRKAG2, PRKAR1A, PRODH, PRODH2, PROM1, PROSC, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPS1, PRSS35, PSPH, PSTK, PTCD1, PTCD2, PTCD3, PTEN, PTGES2, PTPMT1, PTPN11, PTPN4, PTRH1, PTRH2, PTS, PURA, PUS1, PUSL1, PXMP2, PXMP4, PYCR1, PYCR2, PYGL, PYGM, QARS, QDPR, QRSL1, QTRT1, RAB11FIP5, RAB24, RAB32, RAB35, RAI1, RAPSN, RARS, RARS2, RBFA, RBP3, RCN2, RDH11, RDH13, RDH14, RECQL4, REEP1, REXO2, RFK, RFT1, RGR, RHO, RHOT1, RHOT2, RMDN1, RMDN3, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNMTL1, ROM1, ROMO1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1L, RPIA, RPL10, RPL10A, RPL34, RPL35A, RPL5, RPS14, RPS15A, RPS18, RPUSD3, RPUSD4, RRM2B, RSAD1, RSPH9, RTN2, RTN4IP1, RYR1, SACS, SAG, SAMHD1, SAMM50, SARDH, SARS2, SATB2, SBDS, SCCPDH, SCN11A, SCN1A, SCN2A, SCN3B, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SDR39U1, SDSL, SECISBP2, SELO, SEMA4A, SEPN1, SEPSECS, SERAC1, SERPINA1, SERPINI1, SETBP1, SETD2, SETD5, SETD9, SFXN1, SFXN2, SFXN3, SFXN4, SFXN5, SGCA, SGCE, SGSH, SH3TC2, SHANK2, SHANK3, SHMT1, SHMT2, SIRT3, SIRT4, SIRT5, SLC13A5, SLC16A1, SLC16A11, SLC16A2, SLC16A7, SLC19A2, SLC19A3, SLC1A3, SLC1A4, SLC22A4, SLC22A5, SLC24A1, SLC25A1, SLC25A10, SLC25A11, SLC25A12, SLC25A13, SLC25A14, SLC25A15, SLC25A16, SLC25A17, SLC25A18, SLC25A19, SLC25A2, SLC25A20, SLC25A21, SLC25A22, SLC25A23, SLC25A24, SLC25A25, SLC25A26, SLC25A27, SLC25A28, SLC25A29, SLC25A3, SLC25A30, SLC25A31, SLC25A32, SLC25A33, SLC25A34, SLC25A35, SLC25A36, SLC25A37, SLC25A38, SLC25A39, SLC25A4, SLC25A40, SLC25A41, SLC25A42, SLC25A43, SLC25A44, SLC25A45, SLC25A46, SLC25A47, SLC25A48, SLC25A5, SLC25A51, SLC25A53, SLC25A6, SLC29A3, SLC2A1, SLC2A2, SLC30A6, SLC30A9, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC38A8, SLC52A2, SLC52A3, SLC6A8, SLC7A14, SLC7A7, SLC7A9, SLC9A6, SLCO1B1, SLIRP, SLMO1, SLMO2, SMAD4, SMARCA2, SMARCB1, SMC3, SMDT1, SNAP29, SND1, SNRNP200, SOD2, SOX10, SOX11, SOX17, SPAST, SPATA19, SPATA20, SPATA5, SPATA7, SPG11, SPG20, SPG21, SPG7, SPIRE1, SPR, SPRYD4, SPTBN2, SPTLC1, SPTLC2, SQRDL, SQSTM1, SRD5A3, SSBP1, SSR4, STAR, STARD7, STOM, STOML1, STOML2, STRADA, STT3A, STT3B, STUB1, STX17, STXBP1, SUCLA2, SUCLG1, SUCLG2, SUGCT, SUOX, SUPV3L1, SURF1, SYNJ2BP, SYT14, TACO1, TAF1, TALDO1, TAMM41, TANGO2, TAP1, TAP2, TARS, TARS2, TAT, TAZ, TBC1D24, TBCD, TBCK, TBRG4, TCAIM, TCF4, TCHP, TCIRG1, TCTN1, TCTN2, TCTN3, TDP1, TDRD7, TDRKH, TECPR2, TEFM, TFAM, TFB1M, TFB2M, TH, THAP1, THEM4, THEM5, THG1L, THNSL1, TIMM10, TIMM10B, TIMM13, TIMM17A, TIMM17B, TIMM21, TIMM22, TIMM44, TIMM50, TIMM8A, TIMM8B, TIMM9, TIMMDC1, TIRAP, TJP2, TK2, TKT, TMBIM4, TMEM11, TMEM126A, TMEM126B, TMEM138, TMEM143, TMEM14C, TMEM165, TMEM177, TMEM186, TMEM205, TMEM216, TMEM237, TMEM261, TMEM65, TMEM67, TMEM70, TMLHE, TNNT1, TOMM20, TOMM22, TOMM34, TOMM40, TOMM40L, TOMM5, TOMM6, TOMM7, TOMM70A, TOP1MT, TOP3A, TOPORS, TOR1A, TPI1, TPK1, TPP1, TRAP1, TRAPPC11, TRAPPC2, TRIAP1, TRIM37, TRIOBP, TRIT1, TRMT1, TRMT10C, TRMT11, TRMT2B, TRMT5, TRMT61B, TRMU, TRNT1, TRPV4, TRUB2, TSEN2, TSEN34, TSEN54, TSFM, TSPO, TST, TSTD1, TSTD3, TTC19, TTC21B, TTC8, TTN, TUBA1A, TUBB2A, TUBB3, TUBB4A, TUFM, TULP1, TUSC3, TXN2, TXNDC12, TXNRD1, TXNRD2, TYMP, TYSND1, UBE3A, UCHL1, UCP1, UCP2, UCP3, UNC13D, UNC80, UNG, UQCC1, UQCC2, UQCC3, UQCR10, UQCR11, UQCRB, UQCRC1, UQCRC2, UQCRFS1, UQCRH, UQCRQ, USH2A, USMG5, USP14, USP9X, VAMP1, VARS2, VDAC1, VDAC2, VDAC3, VMA21, VPS13A, VPS13B, VPS13C, VPS37A, VRK1, VWA8, WAC, WARS2, WDR19, WDR45, WDR81, WFS1, WHSC1, WWOX, XPNPEP3, XRCC6BP1, YARS2, YBEY, YME1L1, YTHDF2, ZADH2, ZAK, ZC4H2, ZEB2, ZFYVE26, ZFYVE27, ZNF408, ZNF423, ZNF513, ZNF680, ZNF682

Molecular confirmation of a clinical diagnosis
Testing of patients suspected of having a mitochondrial disorder
Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies.

  • Next-Gen Sequencing

Ordering

J809
6 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81440x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Oliveira, G., Diogo, L., Grazina, M., Garcia, P., Ataide, A., Marques, C., Miguel, T., Borges, L., Vicente, A. M., and Oliveira, C. R. (2005) Dev Med Child Neurol 47, 185-9.
  2. Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16].
  3. Tarnopolsky, M. A., and Raha, S. (2005) Med Sci Sports Exerc 37, 2086-93.
  4. van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.
  5. Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
  6. Bai R, Balog A, Higgs J, Retterer K, Arjona D, Juusola J, Vitazka P, Suchy S, Enns GM, Haas R, Goldstein A, Tarnopolsky M, Parikh S, Copeland WC, Niyazov D, Falk MJ, Chung WK, Bale S, Richard G. WES and WMGS for Molecular Diagnosis of Mitochondrial Disord
  7. Pronicka et al. (2016) J Transl Med 14 (1):174 (PMID: 27290639)
  8. Taylor et al. (2014) Jama 312 (1):68-77 (PMID: 25058219)
  9. Retterer et al. (2015) Genet. Med.: (PMID: 26633542)
Mito Genome Sequencing & Deletion Testing

Forms and Documents

Test Details

  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Next-Gen Sequencing

Ordering

554
4 weeks
Solid Tissue (>50 mg Muscle, Liver, Heart, Kidney or Brain-Flash Frozen) | 2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Cultured Fibroblasts (2-T25 Flasks Near Confluence)

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81460x1, 81465x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Oliveira et al., (2005) Dev Med Child Neurol 47:185-189.
  2. Zhu et al., (2009) Acta Biochim Biophys Sin 41:179-187
  3. Chinnery, P. Gene Reviews (2006) Mitochondrial Disorders Overview.
  4. Tarnopolsky, M and Raha S. (2005) Med Sci Sports Exerc 37:2086-93.
  5. van Adel, B. and Tarnopolsky, M. (2009) J Clin Neuromusc Dis 10:97-121.
  6. Longo, N. (2003) Neurol Clin N Am 21:817- 831.
  7. Bennett S.(2004) Pharmacogenomics 5:433-8.
  8. Chinnery, P. Gene Reviews (2006) Mitochondrial Disorders Overview.
  9. Koenig MK. (2008) Pediatr Neurol, 38:305-313.
  10. Zeviani1 and Di Donato. (2004) Brain, 127: 2153–2172.
Combined Mito Genome Plus Mito Focused Nuclear Gene Panel

Forms and Documents

Test Details

AARS2, ABCB7, ACAD9, ACO2, AFG3L2, AGK, AIFM1, ALAS2, APOPT1, ATP5A1, ATP5E, ATP7B, ATPAF2, AUH, BCS1L, BOLA3, C12ORF65, C19orf12, CARS2, CLPB, COA5, COA6, COASY, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX6A1, COX6B1, COX8A, CYC1, DARS2, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FDX1L, FH, FLAD1, FOXRED1, GARS, GCDH, GFER, GFM1, GFM2, GLRX5, GTPBP3, GYG2, HARS2, HMGCL, HTRA2, IARS2, IBA57, ISCA2, ISCU, LAMP2, LARS, LARS2, LIAS, LIPT1, LRPPRC, LYRM4, LYRM7, MARS2, MFF, MFN2, MGME1, MICU1, MPC1, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MTFMT, MTO1, MTPAP, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NR2F1, NUBPL, OPA1, OPA3, OTC, PARS2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PNPT1, POLG, POLG2, PRKAG2, PUS1, QARS, RARS, RARS2, RMND1, RNASEH1, RRM2B, SARS2, SCO1, SCO2, SDHA, SDHAF1, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SPAST, SPG7, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TFAM, TIMM8A, TK2, TMEM126A, TMEM126B, TMEM70, TPK1, TRIT1, TRMT10C, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TYMP, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WDR45, WFS1, YARS2
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

615
6 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81440x1, 81460x1, 81465x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Oliveira et al. (2005) Dev Med Child Neurol 47 (3):185-9 (PMID: 15739723)
  2. Chinnery P. Mitochondrial Disorders Overview 2000 Jun 8 [Updated 2014 Aug 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.n
  3. Tarnopolsky et al. (2005) Med Sci Sports Exerc 37 (12):2086-93 (PMID: 16331134)
  4. van Adel et al. (2009) Journal Of Clinical Neuromuscular Disease 10 (3):97-121 (PMID: 19258857)
  5. Zhu et al. (2009) Acta Biochim. Biophys. Sin. (Shanghai) 41 (3):179-87 (PMID: 19280056)
  6. Longo et al. (2003) Neurol Clin 21 (4):817-31 (PMID: 14743651)
  7. Koenig et al. (2008) Pediatr. Neurol. 38 (5):305-13 (PMID: 18410845)
  8. Zeviani et al. (2004) Brain 127 (Pt 10):2153-72 (PMID: 15358637)
  9. Taylor et al. (2014) JAMA 312 (1):68-77 (PMID: 25058219)
Mitochondrial Focused Nuclear Gene Panel

Forms and Documents

Test Details

AARS2, ABCB7, ACAD9, ACO2, AFG3L2, AGK, AIFM1, ALAS2, APOPT1, ATP5A1, ATP5E, ATP7B, ATPAF2, AUH, BCS1L, BOLA3, C12ORF65, C19orf12, CARS2, CLPB, COA5, COA6, COASY, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX6A1, COX6B1, COX8A, CYC1, DARS2, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FDX1L, FH, FLAD1, FOXRED1, GARS, GCDH, GFER, GFM1, GFM2, GLRX5, GTPBP3, GYG2, HARS2, HMGCL, HTRA2, IARS2, IBA57, ISCA2, ISCU, LAMP2, LARS, LARS2, LIAS, LIPT1, LRPPRC, LYRM4, LYRM7, MARS2, MFF, MFN2, MGME1, MICU1, MPC1, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MTFMT, MTO1, MTPAP, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NR2F1, NUBPL, OPA1, OPA3, OTC, PARS2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PNPT1, POLG, POLG2, PRKAG2, PUS1, QARS, RARS, RARS2, RMND1, RNASEH1, RRM2B, SARS2, SCO1, SCO2, SDHA, SDHAF1, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SPAST, SPG7, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TFAM, TIMM8A, TK2, TMEM126A, TMEM126B, TMEM70, TPK1, TRIT1, TRMT10C, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TYMP, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WDR45, WFS1, YARS2
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

573
6 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81440x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Oliveira et al. (2005) Dev Med Child Neurol 47 (3):185-9 (PMID: 15739723)
  2. Chinnery P. Mitochondrial Disorders Overview 2000 Jun 8 [Updated 2014 Aug 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.n
  3. Tarnopolsky et al. (2005) Med Sci Sports Exerc 37 (12):2086-93 (PMID: 16331134)
  4. van Adel et al. (2009) Journal Of Clinical Neuromuscular Disease 10 (3):97-121 (PMID: 19258857)
  5. Zhu et al. (2009) Acta Biochim. Biophys. Sin. (Shanghai) 41 (3):179-87 (PMID: 19280056)
  6. Koenig et al. (2008) Pediatr. Neurol. 38 (5):305-13 (PMID: 18410845)
  7. Zeviani et al. (2004) Brain 127 (Pt 10):2153-72 (PMID: 15358637)
  8. Taylor et al. (2014) JAMA 312 (1):68-77 (PMID: 25058219)
Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

Forms and Documents

Test Details

AARS2, ACAD9, ACO2, AFG3L2, AIFM1, APOPT1, ATP5A1, ATP5E, ATPAF2, AUH, BCS1L, BOLA3, C12ORF65, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX6B1, COX8A, CYC1, DARS2, DGUOK, DLAT, DLD, DNM1L, EARS2, ECHS1, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FH, FOXRED1, GCDH, GFER, GFM1, GFM2, GTPBP3, GYG2, HMGCL, HTRA2, IARS2, IBA57, ISCA2, LARS2, LIAS, LIPT1, LRPPRC, LYRM7, MARS2, MFF, MFN2, MPC1, MPV17, MRPL44, MRPS22, MTFMT, MTPAP, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB11, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PNPT1, POLG, RARS2, RMND1, RRM2B, SCO1, SCO2, SDHA, SDHAF1, SERAC1, SLC19A3, SLC22A5, SLC25A46, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TK2, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TWNK, TYMP, UQCC2, UQCC3, UQCRQ, VARS2
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

575
6 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81404x4, 81405x2, 81406x2
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Baertling et al. (2014) J. Neurol. Neurosurg. Psychiatry 85 (3):257-65 (PMID: 23772060)
  2. Tucker et al. (2010) Curr Neurol Neurosci Rep 10 (4):277-85 (PMID: 20446063)
  3. Gerards et al. (2016) Mol. Genet. Metab. 117 (3):300-12 (PMID: 26725255)
Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

Forms and Documents

Test Details

ACAD9, AGK, AIFM1, ATP5E, ATPAF2, BCS1L, BOLA3, C12ORF65, CARS2, COQ2, COQ4, COQ7, COQ8A, COQ9, COX10, COX14, COX15, COX6B1, CYC1, DARS2, DGUOK, DLAT, DLD, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FBXL4, FDX1L, FH, FOXRED1, GFER, GFM1, GTPBP3, GYG2, HMGCL, HTRA2, IBA57, ISCU, LARS, LARS2, LIAS, LIPT1, LRPPRC, LYRM4, LYRM7, MFF, MPC1, MPV17, MRPL12, MRPL44, MRPS16, MRPS22, MRPS7, MTFMT, MTO1, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA9, NDUFAF1, NDUFAF3, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NFS1, NFU1, PARS2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PNPT1, POLG, POLG2, PUS1, RARS2, RMND1, RNASEH1, RRM2B, SARS2, SCO2, SDHAF1, SERAC1, SFXN4, SLC25A26, SLC25A3, SLC25A4, SUCLA2, SUCLG1, SURF1, TARS2, TAZ, TK2, TMEM70, TPK1, TRMT10C, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TYMP, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, YARS2
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

576
6 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81404x5, 81405x2, 81406x1, 81407x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Gray et al. (2014) Cell. Mol. Life Sci. 71 (14):2577-604 (PMID: 24363178)
  2. Sperl et al. (2014) Journal Of Inherited Metabolic Disease : (PMID: 25526709)
  3. Tarnopolsky et al. (2005) Med Sci Sports Exerc 37 (12):2086-93 (PMID: 16331134)
Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel

Forms and Documents

Test Details

ACO2, AUH, C12ORF65, CLPB, DGUOK, DNA2, DNAJC19, DNM1L, EARS2, FH, GYG2, ISCA2, MFF, MFN2, MGME1, MTFMT, MTO1, MTPAP, NARS2, NDUFAF3, NR2F1, OPA1, OPA3, PDHX, PDSS1, POLG, POLG2, RNASEH1, RRM2B, SLC19A2, SLC19A3, SLC25A4, SLC25A46, SPG7, SUCLA2, TACO1, TIMM8A, TK2, TMEM126A, TSFM, TWNK, TYMP, VARS2, WFS1
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

577
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81404x1, 81405x2, 81406x2, 81407x1, 81479x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Yu-Wai-Man et al. (2011) Prog Retin Eye Res 30 (2):81-114 (PMID: 21112411)
  2. Oliveira et al. (2005) Dev Med Child Neurol 47 (3):185-9 (PMID: 15739723)
  3. Chinnery P. Mitochondrial Disorders Overview 2000 Jun 8 [Updated 2014 Aug 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.n
  4. van Adel et al. (2009) Journal Of Clinical Neuromuscular Disease 10 (3):97-121 (PMID: 19258857)
  5. Zhu et al. (2009) Acta Biochim. Biophys. Sin. (Shanghai) 41 (3):179-87 (PMID: 19280056)
  6. Fratter et al. (2011) Neurology 76 (23):2032-4 (PMID: 21646632)
  7. Milone et al. (2010) Neurologist 16 (2):84-91 (PMID: 20220442)
  8. Stewart et al. (2008) Neurology 71 (22):1829-31 (PMID: 19029523)
  9. Spiegel et al. (2012) American Journal Of Human Genetics 90 (3):518-23 (PMID: 22405087)
  10. Pilz et al. (2017) J Optom 10 (4):205-214 (PMID: 28040497)
Methylglutaconic Aciduria Nuclear Gene Panel

Forms and Documents

Test Details

AGK, ATP5E, ATPAF2, AUH, CLPB, DNAJC19, HMGCL, HTRA2, OPA3, POLG, SERAC1, SUCLA2, TAZ, TMEM70
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

578
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x2, 81479x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Gunay-Aygun et al. (2005) Mol. Genet. Metab. 84 (1):1-3 (PMID: 15719488)
  2. Gibson et al. (1998) J. Inherit. Metab. Dis. 21 (6):631-8 (PMID: 9762598)
  3. Wortmann et al. (2013) J. Inherit. Metab. Dis. 36 (6):923-8 (PMID: 23296368)
  4. Gibson et al. (1992) J. Pediatr. 121 (6):940-2 (PMID: 1447663)
Congenital Sideroblastic Anemia Panel

Forms and Documents

Test Details

ABCB7, ALAS2, GLRX5, PUS1, SLC19A2, SLC25A38, TRNT1, YARS2
  • Mitochondrial genome large deletion testing
  • Confirmation of a clinical diagnosis
  • To assist in determining the most appropriate therapy, as the response to specific therapeutic modalities depends on the diagnosis
  • Targeted testing for a known familial variant
  • Prenatal diagnosis for known familial variants in nuclear genes in at-risk pregnancies
  • Genetic counseling
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

938
4 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81465x1, 81479x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. OMIM, Online Mendelian Inheritance in Man, (TM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), http://www.ncbi.nlm.n
  2. Bergmann AK et al. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. Pediatric Blood & Cancer. 2010 Feb 54(2):273-8. (PMID:19731322)
  3. Ohba R et al. Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS). Annals Of Hematology. 2013 Jan 92(1):1-9. (PMID:22983749)
  4. Bekri S, D’Hooghe M, Vermeersch P. X-Linked Sideroblastic Anemia and Ataxia. 2006 Mar 1 [Updated 2014 Apr 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Availab
  5. Aivado M et al. X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. Blood Cells, Molecules & Diseases. 37(1):40-5. (PMID: 16735131)
  6. Guernsey DL et al. Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nature Genetics. 2009 Jun 41(6):651-3. (PMID: 19412178)
  7. Rouault TA and Tong WH. Iron-sulfur cluster biogenesis and human disease. Trends In Genetics : Tig. 2008 Aug 24(8):398-407. (PMID:18606475)
  8. Ye H et al. Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts. The Journal Of Clinical Investigation. 2010 May 120(5):1749-61. (PMID:20364084)
  9. Bykhovskaya Y et al. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). American Journal Of Human Genetics. 2004 Jun 74(6):1303-8. (PMID: 15108122)
  10. Bergmann AK et al. Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update. The Journal Of Pediatrics. 2009 Dec 155(6):888-892. (PMID: 19643445)
  11. Chakraborty PK et al. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Blood. 2014 Oct 30 124(18):2867-71. (PMID: 25193871)
  12. Wiseman DH et al. A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Blood. 2013 Jul 4 122(1):112-23. (PMID: 23553769)
  13. Riley LG et al. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. American Journal Of Human Genetics. 2010 87(1):52-9. (PMID: 20598274)
  14. Riley LG et al. Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. Orphanet Journal Of Rare Diseases. 2013 8:193. (PMID: 24344687)
  15. DiMauro S, Hirano M. Mitochondrial DNA Deletion Syndromes. 2003 Dec 17 [Updated 2011 May 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://w
  16. Bekri S et al. Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. Blood. 2000 96(9):3256-64. (PMID: 11050011)
  17. D\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\'Hooghe M et al. X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation. Eu
  18. Maguire A et al. X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. British Journal Of Haematology. 2001 Dec 115(4):910-7. (PMID: 11843825)
  19. Bishop DF et al. X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the ?-subunit of succinyl-CoA synthetase (SUCLA2). The Journal Of Biological Chemistry. 2012 287(34):28943-55. (PMID:22740690)
  20. Campagna DR et al. X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. American Journal Of Hematology. 2014 Mar 89(3):315-9. (PMID:24166784)
  21. Kaneko K et al. Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia. Haematologica. 2014 Feb 99(2):252-61. (PMID:23935018)
  22. . Stenson et al. (2014) The Human Gene Mutation Database (HGMD®) Human genetics 133(1):1-9 (PMID: 24077912)
  23. Kannengiesser C et al. Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia. Haematologica. 2011 Jun 96(6):808-13. (PMID:21393332)
  24. . Fernandez-Vizarra E et al. Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). Journal Of Medical Genetics. 2007 Mar 44(3):173-80. (PMID: 17056637)
  25. Oishi K, Diaz GA. Thiamine-Responsive Megaloblastic Anemia Syndrome. 2003 Oct 24 [Updated 2014 Nov 20]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available fro
  26. Labay V et al. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. Nature Genetics. 1999 Jul 22(3):300-4. (PMID: 10391221)
  27. Scharfe C et al. A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I. Journal Of Medical Genetics. 2000 Sep 37(9):669-73. (PMID: 10978358)
  28. Shahni R et al. A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations. American Journal Of Medical Genetics. Part A. 2013 161(9):2334-8. (PMID:23918765)
65 mtDNA Point Mutations plus Large Deletions Panel

Forms and Documents

Test Details

  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder

65 confirmed disease-causing mtDNA point variants (see list in Test Info Sheet) and large scale deletion analysis of the mitochondrial genome (including LHON [20 mutations], MELAS [16 mutations], LS/NARP [22 mutations], MIHL/MIDM [10 mutations)] MERRF [6 mutations], KSS, CPEO, Pearson syndrome, etc.)

  • Next-Gen Sequencing

Ordering

704
3-4 weeks
Solid Tissue (>50 mg Muscle, Liver, Heart, Kidney or Brain-Flash Frozen) | 2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Cultured Fibroblasts (2-T25 Flasks Near Confluence)

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81401x2, 81465x1, 81479x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Longo, N. (2003) Neurol Clin N Am 21:817-831.
  2. Majamaa et al., (1998) Am J Hum Genet 63:447-454.
  3. Goto et al., (1991) Biochim Biophys Acta 1097:238-40.
  4. Mackey et al., (1996) Am J Hum Genet 59:481-485.
  5. Taylor et al., (2003) J Am Coll Cardiol 41:1786-96.
  6. DiMauro, S. Gene Reviews (2005) MERRF.
  7. Thorburn, D. Gene Reviews (2006) Mitochondrial DNA-Associated Leigh Syndrome and NARP.
  8. DiMauro, S. Gene Reviews (2005) MELAS.
  9. Yu-Wai-Man, P and Chinnery, P. Gene Reviews (2008) Leber Hereditary Optic Neuropathy.
  10. Macmillan et al., (1998) Neurology 50:417-22.
  11. Crispim et al., (2008) Arq Bras Endocrinol Metab 52:1228-1235.
  12. Zhu et al., (2009) Acta Biochim Biophys Sin 41:179-187.
  13. Chinnery, P. Gene Reviews (2006) Mitochondrial Disorders Overview.
  14. Bennett S.(2004) Pharmacogenomics 5:433-8
  15. MITOMAP: A Human Mitochondrial Genome Database. http://www.mitomap.org, 2008.
  16. Achilli et al., (2012) PLoS One 7:e42242.
  17. Pulkes et al., (1999) Ann Neurol 46:916-9.
  18. DiMaruo, S. and Hirano, M. (Updated [May 3, 2011]). Mitochondrial DNA Deletion Syndromes In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2012. Available at http://w
  19. Jeppesen TD,et al. (2003) Ann Neurol 54(1):86-92.
  20. Moraes et al., (1989) N Engl J Med 18:1293-9.
  21. Chinault et al., Genet Med (2009)11:518-526
  22. Uusimaa et al., (2000) Pediatrics 105:598-603
  23. Remes et al., (2005) Neurology 64:976-981
  24. Darin et al., (2001) Ann Neurol 49:377-383
  25. Wong, L. and Senadheera, D. (1997) Clin Chem 43:1857-1861
  26. Jaksch et al., (2001) J Med Genet 38:665-673
Known mtDNA Variant(s) by NGS-Test 453

Forms and Documents

Test Details

  • Carrier testing for a specific mutation previously identified in a family.
  • Clinical laboratory confirmation of one or more mutations identified in a research laboratory
  • Next-Gen Sequencing

Ordering

453
3-4 weeks
Solid Tissue (>50 mg Muscle, Liver, Heart, Kidney or Brain-Flash Frozen) | 2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Cultured Fibroblasts (2-T25 Flasks Near Confluence)

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81401x2
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
POLG Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical and clinical diagnosis
  • Carrier testing
  • Prenatal diagnosis when familial mutations are known
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

394
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
SDHA Gene Sequencing

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

582
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Parfait (2000) Hum Genet 106: 236.
  2. Horvath (2006) J Neurol Neurosurg Psychiatry 77:74.
  3. Bourgeron (1995) Nat Genet 11:144.
  4. Birch-Machin (2000) Ann Neurol 48:330.
  5. Van Coster (2003) Am J Med Genet 120A:13.
  6. Levitas (2010) Eur J Hum Genet 18: 1160.
  7. Burnichon (2010) Hum Mol Genet 19:3011.
mtDNA Deletion Analysis

Forms and Documents

Test Details

  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Next-Gen Sequencing

Ordering

TB60
4 weeks
Solid Tissue (>50 mg Muscle, Liver, Heart, Kidney or Brain-Flash Frozen)
2-5 mL Blood - Lavender Top Tube | Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81465x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
Known mtDNA Variant(s) Testing by NGS-Urine-Test T822

Forms and Documents

Test Details

  • Carrier testing for a specific mutation previously identified in another tissue or family member.
  • Clinical laboratory confirmation of one or more mutations identified in a research laboratory

Urine is only accepted specimen type for this targeted mtDNA variant test.

  • Next-Gen Sequencing

Ordering

T822
3-4 weeks
30 - 50 mL Urine

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81403x3
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Inborn Errors of Metabolism Panels

Combined Lysosomal and Peroxisomal Disorders Panel

Forms and Documents

Test Details

ABCD1, ABHD5, ACOX1, ADAMTSL2, AGA, AGPS, AMACR, ARSA, ARSB, ASAH1, ATP6AP1, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSD, CTSF, DNAJC5, DNM1L, FAR1, FUCA1 , GAA, GALC, GALNS, GBA, GLA, GLB1, GNE, GNPAT, GNPTAB, GNPTG, GNS, GPC3, GUSB, HEXA, HEXB, HGSNAT, HSD17B4, HYAL1, IDS, IDUA, LAMP2, LIPA, LYST, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PNPLA2, PPT1, PSAP, SCARB2, SCP2, SGSH, SLC17A5 , SMPD1, SUMF1, TPP1, TRIM37, VPS33A
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a lysosomal or peroxisomal disorder
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J979
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81404x1; 81405x2; 81406x2; 81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Penati et al. (2017) J. Inherit. Metab. Dis. 40 (4):543-554 (PMID: 28560469)
  2. James et al. (2016) J Paediatr Child Health 52 (3):262-71 (PMID: 27124840)
  3. Giugliani et al. (2016) Expert Rev. Mol. Diagn. 16 (1):113-23 (PMID: 26567866)
  4. Braverman et al. (2016) Mol. Genet. Metab. 117 (3):313-21 (PMID: 26750748)
  5. Steinberg SJ, Raymond GV, Braverman NE, et al. Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum. 2003 Dec 12 [Updated 2012 May 10]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washi
  6. Ebberink et al. (2011) Human Mutation 32 (1):59-69 (PMID: 21031596)
  7. Fernández-Marmiesse et al. (2014) Orphanet J Rare Dis 9 :59 (PMID: 24767253)
  8. Raymond GV, Moser AB, Fatemi A. X-Linked Adrenoleukodystrophy. 1999 Mar 26 [Updated 2018 Feb 15]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
  9. Kok et al. (1995) Hum. Mutat. 6 (2):104-15 (PMID: 7581394)
Congenital Disorders of Glycosylation Gene Panel

Forms and Documents

Test Details

ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6AP1, ATP6V0A2, B3GALNT2, B3GALT6, B3GALTL, B3GAT3, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, CCDC115, CHST14, CHST3, CHST6, CHSY1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, DSE, EOGT, EXT1, EXT2, FKRP, FKTN, FUT8, G6PC3, GALNT3, GFAT1, GMPPA, GMPPB, GNE, GTDC2, ISPD, LARGE, LFNG, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, PAPSS2, PGAP1, PGAP2, PGAP3, PGM1, PGM3, PIGA, PIGL, PIGM, PIGN, PIGO, PIGT, PIGV, PIGW, PIGY, PMM2, POFUT1, POGLUT1, POMGNT1, POMK, POMT1, POMT2, RFT1, RPN2, SEC23A, SEC23B, SLC26A2, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC39A8, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STT3A, STT3B, TMEM165, TMEM199, TMEM5, TRAPPC11, TRIP11, TUSC3, XYLT1
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a congenital disorder of glycosylation
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J977
6 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81405x1; 81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Monticelli et al. (2016) J. Inherit. Metab. Dis. 39 (6):765-780 (PMID: 27393411)
  2. Marques-da-Silva et al. (2017) J. Inherit. Metab. Dis. : (PMID: 2810884)
  3. Van et al. (2016) Glycoconj. J. 33 (3):345-58 (PMID: 26739145)
  4. Krasnewich et al. (2014) Cancer Biomark 14 (1):3-16 (PMID: 24643038)
  5. Jones et al. (2013) Molecular Genetics And Metabolism 110 (1-2):78-85 (PMID: 23806237)
  6. Timal et al. (2012) Human Molecular Genetics 21 (19):4151-61 (PMID: 22492991)
  7. Pérez-Cerdá et al. (2017) J. Pediatr. : (PMID: 28139241)
Creatine Deficiency Syndromes Panel

Forms and Documents

Test Details

GAMT, GATM, SLC6A8
  • Molecular confirmation of a suspected biochemical diagnosis.
  • Testing of patients suspected of having a creatine deficiency syndrome.
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J976
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Mencarelli et al. (2011) American Journal Of Medical Genetics. Part A 155A (10):2446-52 (PMID: 21910234)
  2. Mercimek-Mahmutoglu et al. (2006) Neurology 67 (3):480-4 (PMID: 16855203)
  3. Longo et al. (2011) American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics 157C (1):72-8 (PMID: 21308988)
  4. Mercimek-Mahmutoglu S, Salomons GS. Creatine Deficiency Syndromes. 2009 Jan 15 [Updated 2015 Dec 10]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  5. Stenson et al. (2014) Human Genetics 133 (1):1-9 (PMID: 24077912)
  6. van de Kamp et al. (2013) J. Med. Genet. 50 (7):463-72 (PMID: 23644449)
  7. Mercimek-Mahmutoglu et al. (2014) Human Mutation 35 (4):462-9 (PMID: 24415674)
  8. Stockler-Ipsiroglu et al. (2015) Mol. Genet. Metab. 116 (4):252-9 (PMID: 26490222)
Disorders Associated with C4 Elevation Panel

Forms and Documents

Test Details

ACAD8, ACADS, ETFA, ETFB, ETFDH, ETHE1
  • Molecular confirmation of a suspected biochemical diagnosis.
  • Testing of patients suspected of having a creatine deficiency syndrome.
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J980
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81405x1; 81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Wolfe L, Jethva R, Oglesbee D, et al. Short-Chain Acyl-CoA Dehydrogenase Deficiency. 2011 Sep 22 [Updated 2014 Aug 7]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017
  2. Roe CR, Cederbaum SD, Roe DS, Sweetman L, et al. Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism. Mol
  3. Gregersen et al. (2001) Hum Mutat 18 (3):169-189 (PMID: 11524729)
  4. Corydon et al. (2001) Pediatr Res 49(1): 18-23 (PMID: 11134486)
  5. Gallant et al. (2012) Mol Genet Metab 106(1) :55-61 (PMID: 22424739)
  6. Di Meo I, Lamperti C, Tiranti V. Ethylmalonic Encephalopathy. 2017 Sep 21. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
  7. Rinaldo P., Cowan TP, and Matern D. Acylcarnitine profile analysis. Genetics in Medicine. 2008;10(2):151.
  8. Multiple Acyl-CoA Dehydrogenase Deficiency; MADD. omim.org. https://www.omim.org/entry/231680?search=231680&highlight=231680. Updated July 9, 2016. Accessed November 29, 2017.
Disorders of Hyperphenylalaninemia and Biopterin Metabolism Panel

Forms and Documents

Test Details

DNAJC12, GCH1, PAH, PCBD1, PTS, QDPR, SPR
  • Molecular confirmation of a suspected biochemical diagnosis.
  • Testing of patients suspected of having a disorder of hyperphenylalaninemia or biopterin metabolism.
  • Allows for identification of at-risk family members.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J995
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81405x2; 81406x1; 81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Regier DS, Greene CL. Phenylalanine Hydroxylase Deficiency. 2000 Jan 10 [Updated 2017 Jan 5]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
  2. Longo, et al. (2009) Journal Of Inherited Metabolic Disease 32 (3):333-42 (PMID: 19234759)
  3. Ye et al. (2013) Journal Of Inherited Metabolic Disease 36 (5):893-901 (PMID: 23138986)
  4. Anikster et al. (2017) Am. J. Hum. Genet. 100 (2):257-266 (PMID: 28132689)
  5. Stenson et al. (2014) Human Genetics 133 (1):1-9 (PMID: 24077912)
  6. Leuzzi et al. (2010) Clinical Genetics 77 (3):249-57 (PMID: 20059486)
  7. Friedman et al. (2012) Ann. Neurol. 71 (4):520-30 (PMID: 22522443)
  8. Romstad et al. (2000) Hum. Genet. 107 (6):546-53 (PMID: 11153907)
Fatty Acid Oxidation Panel

Forms and Documents

Test Details

ACADM, ACADS, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HMGCL, HMGCS2, SLC22A5, SLC25A20
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial fatty acid oxidation disorder
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T382
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81404x2; 81405x2; 81406x2
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Houten, S. and Wanders, R. (2010) J Inherit Metab Dis 33:469-477
  2. Lindner, M., et al., (2010) J Inherit Metab Dis 33:521-526
  3. Wanders et al., (2010) J Inherit Metab Dis 33:479-494
  4. Spiekerkoetter, U. and Mayatepek, E., (2010) J Inherit Metab Dis 33:467-468
  5. Bennett S.(2004) Pharmacogenomics 5:433-8
Hyperammonemia, Urea Cycle and Transporter Defects Panel

Forms and Documents

Test Details

ACADM, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CA5A, CPS1, CPT1A, CPT2, DBT, DLD, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HCFC1, HLCS, HMGCL, HMGCS2, IVD, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MMADHC, MUT, NAGS, OAT, OTC, PC, PCCA, PCCB, PDHA1, PIGA, SERAC1, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC7A7, SUCLA2, SUCLG1, TMEM70
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a urea cycle disorder, transporter defect or unexplained hyperammonemia
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T010
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81404x3; 81405x2; 81406x2
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Haberle, J. (2011) Eur J Pediatr 170:21-34.
  2. Lanpher et al., (Updated [Sept. 1, 2011]). Urea Cycle Disorders Overview. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2011.
  3. Auron, A.and Brophy, P. (2011) Pediatr Nephrol
  4. Bennett S.(2004) Pharmacogenomics 5:433-8.
  5. Yamaguchi, S., et al, (2006) Hum Mutat 27(7):626-632.
  6. Tuchman, M., et al., (1998) Mol Genet Metab 21:40S- 58S.
  7. Desviat et al., (2009) Mol Genet Metab 96:171-176.
Lysosomal Disorder Panel

Forms and Documents

Test Details

ABHD5, ADAMTSL2, AGA, ARSA, ARSB, ASAH1, ATP6AP1, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSD, CTSF, DNAJC5, FUCA1 , GAA, GALC, GALNS, GBA, GLA, GLB1, GNE, GNPTAB, GNPTG, GNS, GPC3, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, LAMP2, LIPA, LYST, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PNPLA2, PPT1, PSAP, SCARB2, SGSH, SLC17A5 , SMPD1, SUMF1, TPP1, VPS33A
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a lysosomal disorder
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis
  • Capillary Sequencing

Ordering

T013
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81404x1; 81405x2; 81406x2; 81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Penati et al. (2017) J. Inherit. Metab. Dis. 40 (4):543-554 (PMID: 28560469)
  2. James et al. (2016) J Paediatr Child Health 52 (3):262-71 (PMID: 27124840)
  3. Giugliani et al. (2016) Expert Rev. Mol. Diagn. 16 (1):113-23 (PMID: 26567866)
  4. Fernández-Marmiesse et al. (2014) Orphanet J Rare Dis 9 :59 (PMID: 24767253)
Metabolic Myopathy Panel

Forms and Documents

Test Details

ACAD9, ACADM, ACADVL, AGL, ALDOA, CPT2, ETFA, ETFB, ETFDH, FKRP, GAA, GYG1, GYS1, HADHA, HADHB, ISCU, LDHA, LPIN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PYGM, RYR1, SLC22A5, SLC25A20, SUCLA2, TANGO2, TK2
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a metabolic myopathy
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T012
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81404x3; 81405x2; 81406x2; 81407x1; 81408x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Berardo et al. (2010) Curr Neurol Neurosci Rep 10 (2):118-26 (PMID: 20425236)
  2. Wanders et al. (2010) Journal Of Inherited Metabolic Disease 33 (5):479-94 (PMID: 20490924)
Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Gene Panel
Maple Syrup Urine Disease (MSUD) Panel

Forms and Documents

Test Details

BCKDHA, BCKDHB, DBT
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

488
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81405x1, 81406x2
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
Niemann-Pick Disease, Type C Panel.

Forms and Documents

Test Details

NPC1, NPC2
  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis in families with known mutation
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

581
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1, 81404x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
Peroxisomal Disorders Panel

Forms and Documents

Test Details

ABCD1, ACOX1, AGPS, AMACR, DNM1L, FAR1, GNPAT, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, TRIM37
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a peroxisomal disorder
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J978
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81405x1; 81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Braverman et al. (2016) Mol. Genet. Metab. 117 (3):313-21 PMID: 26750748
  2. Steinberg SJ, Raymond GV, Braverman NE, et al. Zellweger Syndrome Spectrum. 2003 Dec 12 [Updated 2012 May 10]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
  3. Ebberink et al. (2011) Human Mutation 32 (1):59-69 PMID: 21031596
  4. Jacobsen et al. (2015). Case Reports in Genetics, 2015, 454526 PMID: 26587300
  5. Moser A. et al, (1999) Ann Neurol 45(1):100-110 PMID: 9894883
  6. Coll M. et al, (2005) Clin Genet 67:418-424 PMID: 15811009
  7. Raymond GV, Moser AB, Fatemi A. X-Linked Adrenoleukodystrophy. 1999 Mar 26 [Updated 2018 Feb 15]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  8. Kok F. et al, (1995) Human Mutation 6104-6115
Primary Hyperoxaluria Panel

Forms and Documents

Test Details

AGXT, GRHPR, HOGA1
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TG90
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
Riboflavin Transporter Deficiency and Related Disorders Panel
Sanfilippo/MPSIII Panel

Forms and Documents

Test Details

GNS, HGSNAT, NAGLU, SGSH
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancy
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

610
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
  • 277.5 Mucopolysaccharidosis Gargoylism Hunter's syndrome Hurler's syndrome Lipochondrodystrophy Maroteaux-Lamy syndrome Morquio-Brailsford disease Osteochondrodystrophy Sanfilippo's syndrome Scheie's syndrome
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Weber, B. et al. (1999) Eur J of Hum Genet 7:34-44.
  2. Bunge, S. et al. (1999) J Med Genet 36:28-31.
  3. Valstar, M. et al., (2010) J Inher Met Dis 33 :759-767.
  4. Hrebicek, M. et al. (2006) Am J of Hum Genet 79:807-819.
  5. Valstar M. et al., (2010) Hum Mutat 31:E1348-1360.
  6. Meyer, A. et al. (2008) Hum Mut 29 :770-775.
  7. Mok A. et al., (2003) Genomics 81:1-5.
  8. Weber, B. et al. (1997) Hum Mol Gen 6:1573-1579.
  9. Beesley, C. et al. (1998) J Med Genet 35:910-914.
  10. Coutinho M. et al. (2008) Clin Genet 74:194-195.
  11. Feldhammer, M. et al. (2009) Hum Mut 30:918-925.
Tyrosinemia Panel

Forms and Documents

Test Details

FAH, HPD, TAT
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TG91
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Inborn Errors Of Metabolism Single Gene Tests

ACAD8 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Discriminate between IBD deficiency and SCAD deficiency
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

351
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 270.3 Disturbances of branched-chain amino-acid metabolism, Disturbances of metabolism of leucine, isoleucine, and valine, Hypervalinemia Intermittent branched-chain ketonuria, Leucine-induced hypoglycemia, Leucinosis, Maple syrup urine disease
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Oglesbee et al., (2007) Genet Med 9(2):108-116
ACADM Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

2682
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
  • 277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
ACADSB Gene Sequencing

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

383
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Alfardan et al., (2010) Mol Genet Metab 100:333-338
  2. Andresen et al., (2000) Am J Hum Genet 67:1095-1103
  3. Gibson et al., (2000) Pediatr Res 47:830-3
  4. Matern et al., (2003) Pediatrics 112:74-78
  5. Korman et al., (2005) Clin Chem 51:610-617
  6. Sass et al., (2008) Mol Genet Metab 93:30-35
  7. Korman, (2006) Mol Genet Metab 89:289-299
ACADVL Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

270
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
  • 277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
ACAT1 Gene Sequencing

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

354
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 277.8 Other specified disorders of metabolism
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Merinero, et al., (1987) J Inher Metab Dis 10 (Suppl 2):2769
  2. Fukao et al., (1995) Hum Mutat 5:113-120
  3. Fukao et al., (2007) Mol Genet Metab 92:375-378
  4. Zhang et al., (2004) Pediatr Res 56(1) :60-4
  5. Fukao et al., (2001) Mol Genet Metab 72 :109- 114
ACSF3 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

659
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
AGA Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

658
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
ARG1 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

465
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 270.6 Disorders of urea cycle metabolism, Argininosuccinic aciduria, Citrullinemia, Disorders of metabolism of ornithine, citrulline, argininosuccinic acid, arginine, and ammonia, Hyperammonemia, Hyperornithinemia
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Uchino et al., (1995) Hum Genet 96:255-260.
  2. Korman et al., (2004) Prenat Diagn 24:857-860.
  3. Cardoso et al., (1999) Hum Mutat 14:355-6.
  4. Crombez, E. and Cederbaum, S. (2005) Mol Genet Metab 84:243-251.
ARSA Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

563
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81405x1
No
Yes
  • 330.1 Tay-Sachs disease hexosaminidase A deficiency; Cerebral lipidoses
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Harvey et al., (1998) Hum Mol Genet 7 :1215-1219.
  2. Gieselmann et al., (1994) Hum Mutat 4:233-242.
  3. Eng et al., (2003) Hum Mutat 22:418-9.
  4. Bertelli et al., (2006) J Clin Neurosci 13:442-448.
  5. Eng et al., (2004) Am J Med Genet A 128A:95-7.
  6. Biffi et al., (2008) Clin Genet 74:349-357.
  7. Grossi et al., (2008) Hum Mutat 29:E220-30.
  8. Fluharty, A. (Updated [Sept. 30, 2008]) Arylsulfatase A Deficiency. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2011. Available at http://www.genetests.org.
ARSB Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

565
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
  • 330.1 Tay-Sachs disease hexosaminidase A deficiency; Cerebral lipidoses
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Petry et al., (2005) J Inherit Metab Dis 28:1027-1034.
  2. Arlt et al., (1994) J Biol Chem 269:9638-9643.
  3. Villani et al., (2010) Genet Test Mol Biomarkers 14:113-120.
  4. Garrido et al., (2007) Mol Genet Metab 92:122-130.
  5. Karageorgos et al., (2007) Hum Mutat 28:897-903.
  6. Valayannopoulos et al., (2010) Orphanet J Rare Dis 5:5. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - November 2011 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf
ASL Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

426
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
  • 270.6 Disorders of urea cycle metabolism, Argininosuccinic aciduria, Citrullinemia, Disorders of metabolism of ornithine, citrulline, argininosuccinic acid, arginine, and ammonia, Hyperammonemia, Hyperornithinemia
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Barbosa et al., (1991) J Biol Chem 266:5286.
  2. Mercimek-Mahmutoglu et al., (2010) Mol Genet Metab 100:24.
  3. Al- Sayed, et al., (2005) J Inherit Metab Dis 28:877-883
  4. Imtiaz BMC Res Notes 18:79.
  5. Linnebank, et al., (2002) Hum Genet 111:350-359.
ASPA Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Diagnosis of a mild disease presentation
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

564
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81200x1, 81479x1
No
Yes
  • 330.2 Cerebral degeneration in generalized lipidoses; Code first underlying disease, as: Fabry's disease (272.7), Gaucher's disease (272.7), Niemann-Pick disease (272.7), sphingolipidosis (272.7)
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Matalon, R. and Michals-Matalon, K. (Updated [August 11, 2011]) Canavan Disease. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2011. Available at http://www.genete
  2. Zeng et al., (2006) Molec Genet Metab 89 :156-163.
  3. Kaul et al., (1994) Am J Hum Genet 55 :34-41.
  4. Zeng et al., (2002) J Inherit Metab Dis 25 :557-570.
ASS1 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

382
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
  • 270.6 Disorders of urea cycle metabolism, Argininosuccinic aciduria, Citrullinemia, Disorders of metabolism of ornithine, citrulline, argininosuccinic acid, arginine, and ammonia, Hyperammonemia, Hyperornithinemia
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Gao, et al. (2003) Hum Mutat 22:24-34
  2. Haberle, et al. (2002) Hum Genet 110:327-333
  3. GeneTests http://www.genetests.org/
  4. Human Gene Mutation Database: www.hgmd.cf.ac.uk
  5. Kobayashi, et al. (1995) Hum Genet 96:454- 463
  6. Engel et al. (2009) Hum Mutat 30:300-307
ATP7B Gene Sequencing & Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

TG92
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
AUH Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

501
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
BCKDHA Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

4881
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81405x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
BCKDHB Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

4882
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
BTD Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

294
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81404x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
CBS Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

331
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
Yes
Yes
  • 270.45 Homocystinuria
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Kraus et al., (1999) Hum Mutat 13:362-375
  2. Kruger et al., (2003) Hum Mutat 22:434-441
  3. Linnebank et al., (2004) Hum Mutat 24:352-353
  4. Urreizti et al., (2006) J Hum Genet 51:305-313
  5. Refsum et al., (2004) J Pediatr 144 :830-832
CPT1A Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

425
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
CPT2 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

334
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81404x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
DBT Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

4883
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
DHCR7 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of a suspected clinical diagnosis
  • Carrier testing in siblings or other relatives
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

2502
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81405x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
DLD Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

490
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
ETFA Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

278
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
ETFB Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

279
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
ETFDH Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

280
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
ETHE1 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

558
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
FAH Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

3661
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
Yes
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 270.2 Other disturbances of aromatic amino-acid metabolism, Albinism, Alkaptonuria, Alkaptonuric ochronosis, Disturbances of metabolism of tyrosine and tryptophan, Homogentisic acid defects, Hydroxykynureninuria Hypertyrosinemia, Indicanuria, Kynureninase defects, Oasthouse urine disease, Ochronosis, Tyrosinosis, Tyrosinuria, Waardenburg syndrome
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Bergman et al., (1998) Hum Mutat 12 :19-26.
  2. Rootwelt et al., (1994) Am J Hum Genet 55 :1122-1127.
  3. Grompe et al., (1994) N Engl J Med 11(6):353-7.
  4. St-Louis, M. and Tanguay R.M. (1997) Hum Mutat 9 :291- 299.
  5. Arranz et al., (2002) Hum Mutat 20:180-188.
FUCA1 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

661
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
GAA Gene Sequencing & Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

TH08
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
GALC Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

507
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1, 81479x1
No
Yes
  • 330.0 Leukodystrophy
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Wenger, D. (Updated [Aug. 5, 2008]) Krabbe Disease. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle 1997-2010. Available at http://www.genetests.org.
  2. Lee et al., (2010) J Neurosci 30:5489-5497.
  3. Xu et al., (2006) J Hum Genet 51:548-554.
  4. Fu, et al., (1999) J Inher Metab Dis 22:155-162.
  5. Lissens et al., (2007) Hum Mutat 28:742.
  6. De Gasperi et al., (1996) Am J Hum Genet 59:1233-1242.
GALK1 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

499
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
GALNS Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancy
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

608
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
  • 277.5 Mucopolysaccharidosis Gargoylism Hunter's syndrome Hurler's syndrome Lipochondrodystrophy Maroteaux-Lamy syndrome Morquio-Brailsford disease Osteochondrodystrophy Sanfilippo's syndrome Scheie's syndrome
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Tomatsu et al., (2005) Hum Mutat 26:500-512.
  2. Tomatsu et al., (2004) Hum Mutat 24:187.
GALT Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies

Ordering

349E
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1, 81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
GBA Sequencing Test

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

TG94
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
GCDH Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

399
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
GK Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

438
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
GLA Gene Sequencing & Del/Dup

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Mutation detection in female relatives of an affected male
  • Prenatal diagnosis in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

2321
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81405x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. MacDermot KD et al., J Med Genet 38:769-775 (2001)
  2. Barranger, JA & O’Rourke, E 10(1):9-15 (2002)
  3. Bennett RL et al., J of Genetic Counseling, 11(2):121-146 (2002)
  4. Schafer et al., Hum Mutat 25(4):412 (2005)
  5. Gupta et al., Medicine 84(5):261-268 (2005)
GLB1 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

657
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
  • 277.5 Mucopolysaccharidosis Gargoylism Hunter's syndrome Hurler's syndrome Lipochondrodystrophy Maroteaux-Lamy syndrome Morquio-Brailsford disease Osteochondrodystrophy Sanfilippo's syndrome Scheie's syndrome
  • 330.1 Tay-Sachs disease hexosaminidase A deficiency; Cerebral lipidoses
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Caciotti et al., (2011) Biochim Biophys Acta 1812 :782-790.
  2. Santamaria et al., (2006) Hum Mutat 27 :1060.
  3. Morrone et al., (2000) Hum Mutat 15 :354-366.
  4. Caciotti et al., (2005) Hum Mutat 25 :285-292.
  5. Santamaria et al., (2007) Clin Genet 71 :273-279.
  6. Hofer et al., (2010) Clin Genet 78 :236-246.
  7. Hofer et al., (2009) Hum Mutat 30 :1214-1221.
  8. Higaki et al., (2011) Hum Mutat 32 :843-852.
  9. Santamaria et al., (2007) J Lipid Res 48 :2275-82.
GNS Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancy
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

609
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
Yes
Yes
  • 277.5 Mucopolysaccharidosis Gargoylism Hunter's syndrome Hurler's syndrome Lipochondrodystrophy Maroteaux-Lamy syndrome Morquio-Brailsford disease Osteochondrodystrophy Sanfilippo's syndrome Scheie's syndrome
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Beesley, C. et al. (1998) J Med Genet 35:910-914.
  2. Feldhammer, M. et al. (2009) Hum Mut 30:918-925.
  3. Coutinho M. et al. (2008) Clin Genet 74:194-195.
  4. Hrebicek, M. et al. (2006) Am J of Hum Genet 79:807-819.
  5. Mok A. et al., (2003) Genomics 81:1-5.
  6. Weber, B. et al. (1997) Hum Mol Gen 6:1573-1579.
  7. Bunge, S. et al. (1999) J Med Genet 36:28-31.
  8. Valstar, M. et al., (2010) J Inher Met Dis 33 :759-767.
  9. Weber, B. et al. (1999) Eur J of Hum Genet 7:34-44.
  10. Valstar M. et al., (2010) Hum Mutat 31:E1348-1360.
  11. Meyer, A. et al. (2008) Hum Mut 29 :770-775.
HADH Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

508
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
HADHA Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

2712
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
HADHB Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

272
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
HEXA Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis especially in those with borderline enzyme activity
  • Full sequence analysis for non-Jewish partners of individuals who are known to be a mutation carrier
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

519
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
  • 330.1 Tay-Sachs disease hexosaminidase A deficiency; Cerebral lipidoses
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Kaback, M. (Updated [May 19, 2006]) Hexosaminidase A Deficiency In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- 2007. Available at http://www.genetests.org.
  2. Maegawa et al., (2006) Pediatrics 118:e1550-e1562.
  3. Giraud et al., (2010) Biochem Biophys Res Commun 392:599-602.
  4. Montalvo et al., (2005) Hum Mutat 26:282.
  5. Park et al., (2010) Pediatr Res 67:217-20.
  6. Myerowitz, R. And Hogikyan, N. (1986) Science 232:1646-1648.
  7. Hechtman et al., (1992) Hum Genet 90:402-406.
  8. Triggs-Raine et al., (1990) N Engl J Med 323:6-12.
  9. Akerman et al., (1992) Hum Mutat 1:303-309.
  10. Cao et al., (1997) J Biol Chem 272:14975- 14982.
  11. Braekeleer et al., (1992) Hum Genet 89:83-87.
HEXB Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

515
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
  • 330.1 Tay-Sachs disease hexosaminidase A deficiency; Cerebral lipidoses
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Fernandes J. (2006). Inborn Metabolic Diseases. Heidelberg, Germany: Springer Medizin Verlag.
  2. Zampieri et al., (2009) Neurogenetics 10:49-58.
  3. Kleiman et al., (1994) Hum Genet 94:279-282.
  4. Brown et al., (1992) Biochimica et Biophysica Acta 1180:91-98.
  5. Zampieri et al., (2012) PLOS ONE 7 :e41516.
HGSNAT Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancy
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

593
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
  • 277.5 Mucopolysaccharidosis Gargoylism Hunter's syndrome Hurler's syndrome Lipochondrodystrophy Maroteaux-Lamy syndrome Morquio-Brailsford disease Osteochondrodystrophy Sanfilippo's syndrome Scheie's syndrome
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Weber, B. et al. (1997) Hum Mol Gen 6:1573-1579.
  2. Valstar, M. et al., (2010) J Inher Met Dis 33 :759-767.
  3. Hrebicek, M. et al. (2006) Am J of Hum Genet 79:807-819.
  4. Valstar M. et al., (2010) Hum Mutat 31:E1348-1360.
  5. Meyer, A. et al. (2008) Hum Mut 29 :770-775.
  6. Feldhammer, M. et al. (2009) Hum Mut 30:918-925.
  7. Coutinho M. et al. (2008) Clin Genet 74:194-195.
  8. Weber, B. et al. (1999) Eur J of Hum Genet 7:34-44.
  9. Bunge, S. et al. (1999) J Med Genet 36:28-31.
  10. Mok A. et al., (2003) Genomics 81:1-5.
  11. Beesley, C. et al. (1998) J Med Genet 35:910-914.
HLCS Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

320
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
  • 277.8 Other specified disorders of metabolism
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Suzuki et al. (2005) Hum Mutat 26:285-290
  2. Santer et al. (2003) Mol Genet Metab 79:160-166
  3. Yang et al (2001) Hum Genet 109:526-534
  4. Dupuis et al. (1996) Hum Mol Genet 5:1011-1016
HMGCL Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

3211
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
  • 277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
  • 270.3 Disturbances of branched-chain amino-acid metabolism, Disturbances of metabolism of leucine, isoleucine, and valine, Hypervalinemia Intermittent branched-chain ketonuria, Leucine-induced hypoglycemia, Leucinosis, Maple syrup urine disease
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Al-Sayed et al., (2006) BMC Med Genet 7:86
  2. Cardoso et al., (2004) Mol Genet Metab 82:334-338
  3. Muroi et al., (2000) Hum Genet 107:320-326
  4. Menao et al., (2009) Hum Mutat 30:E520-9
  5. Pie et al., (2007) Mol Genet Metab 92:198-209
HPD Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancie
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

495
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
HSD17B10 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Confirmation of clinical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

463
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
IDS Gene Sequencing, Del/Dup, Recombination Analysis

Forms and Documents

Test Details

  • Molecular confirmation of a clinical diagnosis.
  • Molecular diagnosis of patients suspected of having mucopolysaccharidosis type II
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Deletion/Duplication Analysis
  • Capillary Sequencing
  • Long Range PCR

Ordering

T387
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81405x1; 81479x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
IDUA Gene Sequencing & Del/Dup

Forms and Documents

Test Details

  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having Mucopolysaccharidosis Type I
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T386
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Scott et al. (2013) The Journal Of Pediatrics 163 (2):498-503 (PMID: 23465405)
  2. Clarke LA. Mucopolysaccharidosis Type I. 2002 Oct 31 [Updated 2016 Feb 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.n
  3. Stenson et al. (2014) Human genetics 133 (1):1-9 (PMID: 24077912)
  4. Breen et al. (2016) Hum Genome Var 3 :16031 (PMID: 27766162)
  5. Terlato et al. (2003) Genet. Med. 5 (4):286-94 (PMID: 12865757)
  6. Bertola et al. (2011) Hum. Mutat. 32 (6):E2189-210 (PMID: 21394825)
  7. Beesley et al. (2001) Hum. Genet. 109 (5):503-11 (PMID: 11735025)
IVD Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

3191
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
LIPA Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

655
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
  • 789.1 Hepatomegaly Enlargement of liver
  • 272.7 Lipidoses (Fabry Disease)
  • 272.4 Other and unspecified hyperlipidemia Alpha-lipoproteinemia Hyperlipidemia NOS Hyperlipoproteinemia NOS
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Lohse et al., (2000) J Lipid Res 41:23-31.
  2. Pagani et al., (1998) J Lipid Res 39 :1382-1388.
  3. Pisciotta et al., (2000) Mol Genet Metab 97 :143-148.
  4. Anderson et al., (1999) Mol Genet Metab 68 :333-345.
  5. Lohse et al., (1999) J Lipid Res 40 :221-228.
  6. Pagani et al., (1996) Hum Mol Genet 5 :1611-1617.
  7. Aslanidis et al., (1996) Genomics 33 :85-93.
MAT1A Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

473
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
MCCC1 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

2882
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
MCCC2 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

2881
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
MCOLN1 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

2432
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81290x1, 81479x1
Yes
Yes
  • 272.7 Lipidoses (Fabry Disease)
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Bargal (2000) Nat Genet 26, 118
  2. Sun (2000) Hum Mol Genet 9, 2471
  3. Bassi (2000) Am J Hum Genet 67, 1110
  4. Bach (2005) Hum Mutat 26(6):591
  5. Dobrovolny (2007) Am J Ophthalmol 143:663-671
  6. Bargal (2001) Hum Mutat 17:397-402
  7. Slaugenhaupt (2002) Curr Molec Med 2:445-450
MLYCD Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

404
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
MMAA Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

276
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81405x1
No
Yes
  • 276.2 Acidosis Acidosis
  • 270.7 Other disturbances of straight-chain amino-acid metabolism, Glucoglycinuria, Glycinemia (with methylmalonic acidemia), Hyperglycinemia, Hyperlysinemia, Pipecolic acidemia, Saccharopinuria, Other disturbances of metabolism of glycine, threonine, serine, glutamine, and lysine
  • 277.8 Other specified disorders of metabolism
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Merinero et al., (2008) J Inherit Metab Dis 31:55-66
  2. Lerner-Ellis, J.P. et al., (2006) Mol Genet Metab 87:219-225
  3. Lerner-Ellis, J.P. et al., (2004) Hum Mut 24:509-516
  4. Nyhan, WL, Barshop, BA, Ozand, PT (2005) Atlas of Metabolic Diseases Oxford University Press. NY
  5. Coulombe J.T et al., (1981) Pediatrics 67:26-31
  6. Worgan, LC et al., (2006) Hum Mut 27:31-43
MMAB Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

277
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81405x1
No
Yes
  • 276.2 Acidosis Acidosis
  • 270.7 Other disturbances of straight-chain amino-acid metabolism, Glucoglycinuria, Glycinemia (with methylmalonic acidemia), Hyperglycinemia, Hyperlysinemia, Pipecolic acidemia, Saccharopinuria, Other disturbances of metabolism of glycine, threonine, serine, glutamine, and lysine
  • 277.8 Other specified disorders of metabolism
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Merinero et al., (2008) J Inherit Metab Dis 31:55-66
  2. Lerner-Ellis, J.P. et al., (2006) Mol Genet Metab 87:219-225
  3. Lerner-Ellis, J.P. et al., (2004) Hum Mut 24:509-516
  4. Worgan, LC et al., (2006) Hum Mut 27:31-43
  5. Coulombe J.T et al., (1981) Pediatrics 67:26-31
  6. Nyhan, WL, Barshop, BA, Ozand, PT (2005) Atlas of Metabolic Diseases Oxford University Press. NY
MMACHC Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of a biochemical/clinical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

274
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81404x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
MUT Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

2752
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
  • 276.2 Acidosis Acidosis
  • 270.7 Other disturbances of straight-chain amino-acid metabolism, Glucoglycinuria, Glycinemia (with methylmalonic acidemia), Hyperglycinemia, Hyperlysinemia, Pipecolic acidemia, Saccharopinuria, Other disturbances of metabolism of glycine, threonine, serine, glutamine, and lysine
  • 277.8 Other specified disorders of metabolism
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Merinero et al., (2008) J Inherit Metab Dis 31:55-66
  2. Lerner-Ellis, J.P. et al., (2004) Hum Mut 24:509-516
  3. Lerner-Ellis, J.P. et al., (2006) Mol Genet Metab 87:219-225
  4. Nyhan, WL, Barshop, BA, Ozand, PT (2005) Atlas of Metabolic Diseases Oxford University Press. NY
  5. Coulombe J.T et al., (1981) Pediatrics 67:26-31
  6. Worgan, LC et al., (2006) Hum Mut 27:31-43
NAGLU Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancy
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

592
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
  • 277.5 Mucopolysaccharidosis Gargoylism Hunter's syndrome Hurler's syndrome Lipochondrodystrophy Maroteaux-Lamy syndrome Morquio-Brailsford disease Osteochondrodystrophy Sanfilippo's syndrome Scheie's syndrome
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Hrebicek, M. et al. (2006) Am J of Hum Genet 79:807-819.
  2. Valstar M. et al., (2010) Hum Mutat 31:E1348-1360.
  3. Coutinho M. et al. (2008) Clin Genet 74:194-195.
  4. Weber, B. et al. (1997) Hum Mol Gen 6:1573-1579.
  5. Mok A. et al., (2003) Genomics 81:1-5.
  6. Beesley, C. et al. (1998) J Med Genet 35:910-914.
  7. Weber, B. et al. (1999) Eur J of Hum Genet 7:34-44.
  8. Bunge, S. et al. (1999) J Med Genet 36:28-31.
  9. Valstar, M. et al., (2010) J Inher Met Dis 33 :759-767.
  10. Meyer, A. et al. (2008) Hum Mut 29 :770-775.
  11. Feldhammer, M. et al. (2009) Hum Mut 30:918-925.
NAGS Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Differentiation between NAGS deficiency and CPS1 deficiency
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

478
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
NEU1 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancy
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

648
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
  • 272.2 Mixed hyperlipidemia, Broad- or floating-betalipoproteinemia, Combined hyperlipidemia, Elevated cholesterol with elevated triglycerides NEC, Fredrickson Type IIb or III hyperlipoproteinemia, Hypercholesterolemia with endogenous hyperglyceridemia, Hyperbetalipoproteinemia with prebetalipoproteinemia, Tubo-eruptive xanthoma Xanthoma tuberosum
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Caciotti et al., (2009) J Neurol 256:1911-1915.
  2. Bonten et al., (2000) Hum Mol Genet 9:2715-2725.
  3. Coutinho et al., (2012) Clin Genet 2012) Clin Genet 81:379-393.
  4. Pattison et al., (2004) Hum Mutat 23:32-39.
  5. Seyrantepe et al., (2003) Hum Mutat 22:343-352.
NPC1 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis in families with known mutation
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

246
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
NPC2 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis in families with known mutation
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

247
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81404x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
OTC Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Identification of males with partial enzyme deficiency
  • Identification of females heterozygous for a mutation
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

313
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81405x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
PAH Gene Sequencing and Del/Dup for PKU

Forms and Documents

Test Details

  • Confirmation of a biochemical diagnosis
  • Carrier testing for at-risk relatives
  • Risk assessment
  • Prenatal diagnosis in families with an affected child and known mutations
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

273
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
PC Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

540
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
PCCA Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

2902
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
PCCB Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

2901
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
PDHA1 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

461
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
PDHB Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

462
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81405x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
PSAP Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Testing of patients with the phenotype of metachromatic leukodystrophy, Gaucher disease or Krabbe disease without the characteristic in vitro enzyme deficiency.
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

528
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
  • 330.2 Cerebral degeneration in generalized lipidoses; Code first underlying disease, as: Fabry's disease (272.7), Gaucher's disease (272.7), Niemann-Pick disease (272.7), sphingolipidosis (272.7)
  • 330.0 Leukodystrophy
  • 272.7 Lipidoses (Fabry Disease)
  • 272.2 Mixed hyperlipidemia, Broad- or floating-betalipoproteinemia, Combined hyperlipidemia, Elevated cholesterol with elevated triglycerides NEC, Fredrickson Type IIb or III hyperlipoproteinemia, Hypercholesterolemia with endogenous hyperglyceridemia, Hyperbetalipoproteinemia with prebetalipoproteinemia, Tubo-eruptive xanthoma Xanthoma tuberosum
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Diaz-Font et al., (2005) Hum Genet 117:275- 277.
  2. Henseler et al., (1996) Am J Hum Genet 58:65-74.
  3. Kretz et al., (1990) Proc Natl Acad Sci 87:2541-2544.
  4. Regis et al., (1999) Eur J Hum Genet 7:125-130.
  5. Wrobe et al., (2000) J Inherit Metab Dis 23:64-76.
  6. Tylki-Szymanska et al., (2007) Clin Genet 72:538-542.
  7. Hulkova et al., (2001) Hum Mol Genet 10:927-940.
  8. Kuchar et al., (2009) Am J Med Genet A 149A:613-21.
  9. Schnabel et al., (1992) J Biol Chem 267:3312-5.
  10. Spiegel et al., (2005) Mol Genet Metab 84:160-166.
  11. Zuhair et al., (2009) J Child Neurol 24:1513-1519.
  12. Vaccaro et al., (2010) Hum Mol Genet 19:2987-2997.
  13. Fernandes J. (2006). Inborn Metabolic Diseases. Heidelberg, Germany: Springer Medizin Verlag.
PTS Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

380
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
PYGM Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Confirmation of clinical diagnosis
  • Carrier Testing
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

649
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
QDPR Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

381
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
SGSH Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancy
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

591
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
  • 277.5 Mucopolysaccharidosis Gargoylism Hunter's syndrome Hurler's syndrome Lipochondrodystrophy Maroteaux-Lamy syndrome Morquio-Brailsford disease Osteochondrodystrophy Sanfilippo's syndrome Scheie's syndrome
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Hrebicek, M. et al. (2006) Am J of Hum Genet 79:807-819.
  2. Beesley, C. et al. (1998) J Med Genet 35:910-914.
  3. Weber, B. et al. (1999) Eur J of Hum Genet 7:34-44.
  4. Bunge, S. et al. (1999) J Med Genet 36:28-31.
  5. Valstar, M. et al., (2010) J Inher Met Dis 33 :759-767.
  6. Weber, B. et al. (1997) Hum Mol Gen 6:1573-1579.
  7. Mok A. et al., (2003) Genomics 81:1-5.
  8. Meyer, A. et al. (2008) Hum Mut 29 :770-775.
  9. Feldhammer, M. et al. (2009) Hum Mut 30:918-925.
  10. Coutinho M. et al. (2008) Clin Genet 74:194-195.
  11. Valstar M. et al., (2010) Hum Mutat 31:E1348-1360.
SLC17A5 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

605
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
SLC22A5 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • To confirm maternal PCD
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

365
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81405x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
SLC25A13 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Confirmation of clinical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

500
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
SLC25A20 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

429
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81405x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
SMPD1 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis in families with known mutation(s)
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

2631
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81330x1
No
Yes
  • 330.2 Cerebral degeneration in generalized lipidoses; Code first underlying disease, as: Fabry's disease (272.7), Gaucher's disease (272.7), Niemann-Pick disease (272.7), sphingolipidosis (272.7)
  • 272.2 Mixed hyperlipidemia, Broad- or floating-betalipoproteinemia, Combined hyperlipidemia, Elevated cholesterol with elevated triglycerides NEC, Fredrickson Type IIb or III hyperlipoproteinemia, Hypercholesterolemia with endogenous hyperglyceridemia, Hyperbetalipoproteinemia with prebetalipoproteinemia, Tubo-eruptive xanthoma Xanthoma tuberosum
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Simonaro CM, Park J-H, Eliyahu E, Shtraizent N, McGovern MM, Schuchman EH (2006). Am J Hum Genet 78:865-70;
  2. Sikora J, PavluPereira H, Elleder M, Roelofs H, Wevers RA (2003). Annals of Human Genetics 67:63-70
  3. Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH (2002. Am J Hum Genet 71:1413-9
  4. Fernandez-Burriel M, Pena L, Ramos JC, Cabrera JC, Marti M, Rodriguez-Quinones F, Chabas A (2003). Clin Genet 63(3):235-6
  5. McGovern MM, Schuchman EH (Updated 12-06-2006) Acid sphingomyelinase deficiency, In: GeneReviews at GeneTests: Medical Genetics Information Resource (databse online)
SUMF1 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

611
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
TAT Gene Sequencing and Del/Dup

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

494
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
Yes
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 270.2 Other disturbances of aromatic amino-acid metabolism, Albinism, Alkaptonuria, Alkaptonuric ochronosis, Disturbances of metabolism of tyrosine and tryptophan, Homogentisic acid defects, Hydroxykynureninuria Hypertyrosinemia, Indicanuria, Kynureninase defects, Oasthouse urine disease, Ochronosis, Tyrosinosis, Tyrosinuria, Waardenburg syndrome
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Natt et al., (1987) Hum Genet 77:352-358.
  2. Natt et al., (1992) Proc Natl Acad Sci 89:9297-9301.
  3. Huhn et al., (1998) Hum Genet 102:305-313.
  4. Maydan et al., (2006) J Inherit Metab Dis 29:620-626.
  5. Charfeddine et al., (2006) Mol Genet Metab 88:184-191.
TPP1 Gene Sequencing and Del/Dup

Forms and Documents

Test Details

TPP1 (CLN2)
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

607
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Metabolic/Mitochondrial Disorders Variant Testing Program (VTP)

Laboratories classify genetic changes as variants of uncertain significance (VUS) when there is incomplete or conflicting information about the health consequences of the variant. In some cases, testing family members for the presence or absence of a VUS may contribute to a better understanding of the variant and may be one piece of evidence leading to eventual reclassification of a VUS as a pathogenic, likely pathogenic, benign, or likely benign variant. For such cases, GeneDx has established a Variant Testing Program (VTP).

How do I determine if a variant is eligible for the Metabolic/Mitochondrial Disorders VTP?

GeneDx considers requests for the Metabolic/Mitochondrial Disorders VTP for any individual found to have a VUS identified in a proband by metabolic or mitochondrial genetic testing at our laboratory. These studies will be performed at no additional charge for select and pre-approved family members who meet certain criteria and for whom appropriate clinical information is provided. Genetic testing for other variants or additional family members, including predictive testing, is not included in our VTP and can be ordered separately for charge. GeneDx will make the final determinations for VTP in its sole discretion.

Application process for the Metabolic/Mitochondrial Disorders VTP:

  • Please fax a detailed pedigree and any relevant clinical information/evaluations to the GeneDx metabolic/mitochondrial genetic counselors at 301-519-2892, email zebras@genedx.com, or call 301-519-2100 and ask to speak with a genetic counselor. Please be sure to indicate that you are submitting the information for VTP consideration, and include the name and/or GeneDx accession number of the proband.
  • Our team will review the case and will determine if there are informative family members appropriate for evaluation through the VTP. Cases are typically reviewed within a few days, but please allow up to 3 weeks after receipt of the application for a reply.
  • A member of our team will contact the ordering provider or genetic counselor after the case has been reviewed to let him/her know if the family has been accepted in the VTP. If we are extending an offer for family member variant testing, we will discuss logistics of sample submission at that time.

Note that testing through the VTP only includes testing for the familial variant(s) in question. More thorough testing that may have been performed on the original patient is not provided through the VTP.

Reasons why family members may not be accepted into the Metabolic/Mitochondrial Disorders VTP:

  • There are no informative family members available for testing.
  • In certain circumstances, it may be more informative to perform more comprehensive diagnostic genetic testing in affected family member(s) instead of targeted testing of one or more unaffected relatives for a VUS.
  • The variant is in a gene that does not correspond well with the clinical phenotype reported in the proband or the medical history in the family.
  • Variant studies for the evaluation of a single VUS in a gene associated with an autosomal recessive disorder are rarely informative. Therefore, these requests are typically denied.
  • Variant studies for the evaluation of a homozygous VUS identified in a gene associated with an autosomal recessive disorder are also often not informative and may be denied.
  • Segregation studies involving genes that may cause either an autosomal dominant or an autosomal recessive disorder are also more challenging than studies involving highly penetrant autosomal dominant genes; therefore, VTP studies are less likely to be approved for such genes.

Revising the classification of variants of uncertain significance takes a great deal of data and information from multiple sources. Therefore, there is no guarantee that participation in the VTP will lead to an updated classification of a VUS based on information from a single family, although cumulative data collected from multiple families over time may lead to a more definitive classification for a variant.

For more information please contact:
The GeneDx Metabolic/Mitochondrial Genetic Counselors at 301-519-2100.