Progressive Familial Intrahepatic Cholestasis (PFIC)

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.

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)

Forms and Documents

Test Details

ABCB11, ABCB4, ATP8B1, JAG1, NOTCH2, TJP2
  • Molecular confirmation of a clinical diagnosis
  • Development of appropriate evaluation and management plan
  • Identification of individuals with milder manifestations
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Evaluation of family members as possible donors for liver transplantation
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Genetic counseling, especially regarding recurrence risk and prenatal diagnosis

Ordering

TG20
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; 81407x1; 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.