Congenital Disorder of Glycosylation

Forms and Documents

Test Details

AAAS, AARS, AARS2, AASS, ABCA1, ABCB7, ABCC6, ABCC8, ABCD1, ABHD12, ABHD5, ACAT2, ACBD6, ACD, ACO2, ACOX1, ACP5, ACTB, ADAR, ADCK3, ADCY5, ADCY6, ADD3, ADGRG1, ADSL, AFF2, AFG3L2, AGA, AGRN, AHDC1, AHI1, AIFM1, AIMP1, AIP, AIPL1, ALAD, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALG6, ALK, ALS2, AMACR, AMPD2, ANG, ANK3, ANKLE2, ANKRD11, ANO10, ANO3, ANOS1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APC, APOA1, APOB, APOPT1, APP, APTX, ARFGEF2, ARG1, ARHGAP31, ARID1B, ARL13B, ARL6, ARL6IP1, ARNT2, ARSA, ARSI, ARX, ASL, ASNS, ASPM, ASS1, ATCAY, ATG5, ATL1, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2B3, ATP2B4, ATP5A1, ATP5E, ATP6AP2, ATP7A, ATP7B, ATP8A2, ATPAF1, ATPAF2, ATRX, AUH, B3GALNT2, B3GALT6, B4GALNT1, B4GAT1, B9D1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCOR, BCS1L, BICD2, BRAT1, BSCL2, BTD, BTK, C10orf2, C12ORF65, C19orf12, C5orf42, CA8, CACNA1A, CACNA1B, CACNA1D, CACNA1G, CACNB4, CACNG2, CAMTA1, CAPN1, CARS2, CASK, CAV1, CBS, CC2D1A, CC2D2A, CCDC88C, CCT5, CDH15, CDK5RAP2, CDK6, CDKL5, CECR1, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP63, CHAMP1, CHAT, CHCHD10, CHD2, CHD7, CHL1, CHMP1A, CHMP2B, CISD2, CIZ1, CKAP2L, CLCN2, CLIC2, CLIP1, CLK2, CLMP, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLRN1, CNTN4, CNTNAP1, COA3, COASY, COG4, COG5, COL18A1, COL4A1, COL4A2, COL6A3, COQ2, COX10, COX14, COX15, COX20, COX6B1, CP, CPS1, CPT1A, CPT1C, CRADD, CRB1, CRBN, CREBBP, CRX, CSF1R, CSPP1, CSTB, CTBP1, CTC1, CTDP1, CTLA4, CTNNB1, CTNND2, CTSD, CTSF, CUL4B, CWF19L1, CYC1, CYP27A1, CYP2U1, CYP7B1, DAG1, DAO, DARS, DARS2, DBT, DCAF17, DCTN1, DCX, DDC, DDHD1, DDHD2, DDX3X, DEAF1, DHCR24, DHFR, DKC1, DLAT, DLD, DLGAP4, DLL4, DMXL2, DNAJC13, DNAJC19, DNAJC3, DNAJC5, DNAJC6, DNASE1L3, DNM1, DNM1L, DNM2, DNMT1, DOCK6, DOCK8, DPM1, DPYD, DPYS, DRD2, DUSP6, DYNC1H1, DYRK1A, DYSF, EARS2, EBF3, ECHS1, EDC3, EDN3, EDNRB, EEF2, EGR2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4G1, ELOVL4, ELOVL5, EML1, EMX2, ENPP1, ENTPD1, EOGT, EPB41L1, EPB41L4A, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERLIN1, ERLIN2, ETHE1, EXOSC3, EXOSC8, EXT2, EZH2, FA2H, FAAH, FAR1, FARS2, FASTKD2, FBXL4, FBXO31, FBXO7, FEZF1, FGD4, FGF14, FGF17, FGF8, FGFR1, FIG4, FKRP, FKTN, FLNA, FLRT1, FLRT3, FLVCR1, FMN2, FOXG1, FOXP1, FOXP3, FOXRED1, FTL, FUCA1 , FUS, FUZ, FXN, GABRA1, GABRB2, GABRD, GABRG2, GAD1, GALC, GAMT, GAN, GATAD2B, GBA, GBA2, GBE1, GCDH, GCH1, GDF3, GDF6, GEMIN4, GEMIN5, GFAP, GFM1, GIGYF2, GJA1, GJB1, GJB2, GJB6, GJC2, GLB1, GLI2, GLRA1, GLRX5, GLYCTK, GMPPA, GMPPB, GNAL, GNAO1, GNAQ, GNRH1, GNRHR, GOSR2, GPI, GPR101, GPR88, GRID2, GRIK2, GRIN1, GRIN2B, GRM1, GRN, GSS, GUCY2D, HACE1, HARS, HARS2, HCFC1, HCN1, HDAC8, HEPACAM, HESX1, HEXA, HEXB, HFE, HGSNAT, HIBCH, HIC1, HK1, HLA-DPB1, HMBS, HMGCS2, HNRNPA1, HNRNPA2B1, HPCA, HPGD, HPRT1, HS6ST1, HSD17B10, HSD17B4, HSPD1, HSPG2, HTRA2, IBA57, IDH2, IDUA, IFIH1, IFRD1, IFT140, IFT172, IFT27, IL10, IL12A, IL17RD, IL23R, IL6, IMPDH1, INPP5E, IQCB1, IQSEC2, ISCA2, ISPD, ITM2B, ITPR1, JAM3, KANK1, KAT6A, KATNB1, KCNA1, KCNA2, KCNAB2, KCNB1, KCNB2, KCNC3, KCND3, KCNJ10, KCNJ13, KCNJ6, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM5C, KDM6A, KIAA0196, KIAA0226, KIAA0586, KIAA2022 (NEXMIF), KIF1A, KIF1C, KIF2A, KIF5A, KIF5C, KIRREL3, KISS1, KISS1R, KLC2, KLC4, L1CAM, L2HGDH, LAMA1, LAMB2, LARS, LARS2, LCA5, LDLR, LHX4, LIAS, LIPT1, LMBRD1, LMNB1, LMNB2, LRAT, LRPPRC, LRRK2, LRSAM1, LYRM7, LZTFL1, MAG, MAN1B1, MAN2B1, MAPT, MARS, MARS2, MAT1A, MATR3, MBD5, MCOLN1, MCPH1, MECP2, MED13L, MED17, MED23, MED25, MEF2C, MEFV, MEOX1, METTL23, MFN2, MFSD2A, MFSD8, MICU1, MKKS, MKS1, MLC1, MLLT3, MMADHC, MOCS1, MOCS2, MPDU1, MPV17, MPZ, MR1, MRE11A, MRPS22, MTFMT, MTO1, MTPAP, MTTP, MUT, MVK, MYCN, MYO5A, MYT1L, NAA10, NADK2, NAGA, NAGLU, NAGPA, NALCN, NAT8L, NDE1, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEFH, NEFL, NFU1, NGLY1, NHP2, NIPA1, NKAIN2, NKX2-1, NKX6-2, NME1, NMNAT1, NOD2, NOP10, NOTCH1, NOTCH3, NPC1, NPC2, NPHP1, NRAS, NSD1, NSMF, NSUN2, NT5C2, NTNG1, NUBPL, NUP62, OCLN, OPA1, OPA3, OPHN1, OPTN, OTC, OTUD4, OTX2, PACRG, PAFAH1B1, PAFAH1B3, PAH, PAK3, PANK2, PARK2, PARK7, PARN, PAX3, PAX6, PCCA, PCCB, PCDH19, PCLO, PCNA, PDC, PDE10A, PDE8B, PDGFB, PDGFRB, PDHA1, PDHX, PDP1, PDSS2, PDYN, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFN1, PGAP1, PGK1, PGM3, PHC1, PHGDH, PHOX2B, PHYH, PIGA, PIGN, PIGQ, PIK3R5, PINK1, PLA2G6, PLCB1, PLEKHG2, PLEKHG4, PLP1, PLXND1, PMM2, PMP22, PMPCA, PNKD, PNKP, PNP, PNPLA6, PNPLA8, PNPT1, POLA1, POLG, POLG2, POLR1C, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PON1, PON2, PON3, POU1F1, PPARGC1A, PPM1K, PPT1, PQBP1, PRF1, PRICKLE1, PRKCG, PRKRA, PRNP, PROK2, PROKR2, PROP1, PRPH, PRPS1, PRRT2, PRSS12, PRTN3, PRX, PSAP, PSEN1, PSEN2, PTCH1, PTCH2, PTCHD1, PTPN22, PTRH2, PTS, PURA, QARS, QDPR, RAB18, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAD50, RARS2, RASA1, RAX, RBFOX1, RBM10, RBPJ, RD3, RDH12, REEP1, REEP2, RELN, RETREG1, REV3L, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF125, RNF168, RNF170, RNF216, ROGDI, RPE65, RPGRIP1, RPGRIP1L, RPIA, RRM2B, RTEL1, RTN2, RTN4IP1, RTTN, SACS, SAMD9L, SAMHD1, SASS6, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN4A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SCYL1, SDCCAG8, SDHA, SDHAF1, SDHB, SDHD, SEMA3A, SEPSECS, SERAC1, SETD2, SETX, SGCE, SHANK3, SHH, SIGMAR1, SIK1, SIL1, SIX3, SKI, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5 , SLC19A2, SLC19A3, SLC1A3, SLC1A4, SLC20A2, SLC25A1, SLC25A12, SLC25A15, SLC25A22, SLC25A4, SLC25A46, SLC2A1, SLC2A3, SLC30A10, SLC33A1, SLC39A14, SLC39A4, SLC46A1, SLC52A2, SLC52A3, SLC6A1, SLC6A17, SLC6A19, SLC6A3, SLC6A8, SLC9A1, SLC9A6, SMAD4, SMARCA4, SMARCB1, SMC1A, SMPD1, SNAP25, SNCA, SNX14, SOD1, SORL1, SOST, SOX10, SOX2, SOX3, SOX6, SPAST, SPATA5, SPATA7, SPG11, SPG20, SPG21, SPG7, SPR, SPRY4, SPTAN1, SPTBN2, SQSTM1, SRD5A3, ST3GAL3, ST3GAL5, STAMBP, STAT4, STIL, STK11, STRADA, STUB1, STX11, STXBP1, STXBP2, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SURF1, SYNE1, SYNGAP1, SYNJ1, SYT14, SYT2, TAC3, TACO1, TACR3, TAF1, TAF2, TARDBP, TBC1D20, TBC1D24, TBK1, TBX18, TCF4, TCN2, TCTN1, TCTN2, TDP1, TDP2, TEAD1, TECPR2, TECR, TERT, TFG, TGM6, TH, THAP1, THG1L, TIMM8A, TINF2, TK2, TLR4, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM5, TMEM67, TMEM70, TOP2A, TOR1A, TOR1AIP1, TPI1, TPK1, TPM2, TPM3, TPP1, TRAPPC11, TRAPPC9, TREM2, TREX1, TRIM32, TRNT1, TSEN2, TSEN34, TSEN54, TSFM, TTBK2, TTC19, TTC8, TTF1, TTPA, TTR, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TULP1, TUSC3, TYMP, TYROBP, UBA5, UBE3A, UBQLN2, UBTF, UCHL1, UNC13A, UNC13D, UNC80, UPB1, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, UROC1, UROD, USB1, USP8, VAMP1, VAPB, VARS2, VCP, VLDLR, VPS13A, VPS13B, VPS16, VPS35, VPS37A, VPS53, VRK1, VWA3B, VWF, WDPCP, WDR11, WDR45, WDR48, WDR62, WDR73, WDR81, WFS1, WNK1, WRAP53, WWOX, XPA, XPR1, XRCC1, XRCC4, YWHAE, ZC3H14, ZC4H2, ZFR, ZFYVE26, ZFYVE27, ZNF335, ZNF423, ZNF592
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with ataxia

Ordering

J762
6 weeks
2-5 mL Blood - Lavender Top Tube
Dried Blood Spots | Buccal Swabs

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

Billing

81286x1, 81185x1, 81403x1, 81404x1, 81405x2, 81406x4, 81407x1, 81408x2
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. Bird T. Hereditary Ataxia Overview. 1998 Oct 28 [Updated 2016 Nov 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/boo
  2. Finsterer et al. (2009) Can J Neurol Sci 36 (4):409-28 (PMID: 19650351)
  3. Jayadev et al. (2013) Genet. Med. 15 (9):673-83 (PMID: 23538602)
  4. Sandford et al. (2014) Genes (Basel) 5 (3):586-603 (PMID: 25055202)
  5. Durr et al. (2010) Lancet Neurol 9 (9):885-94 (PMID: 20723845)
  6. Embiruçu et al. (2009) Arq Neuropsiquiatr 67 (4):1143-56 (PMID: 20069237)
  7. Kalia et al. (2016) Genet. Med.: (PMID: 27854360)
  8. Nemeth et al. (2013) Brain 136 (Pt 10):3106-18 (PMID: 24030952)
  9. Sastry et al. Exome Sequencing Provides a Broad Evaluation and High Diagnostic Rate for Ataxia-Related Disorders [abstract and platform presentation] To be presented at the 2017 ACMG Annual Clinical Genetics Meeting, March 21-25, 2016 Phoenix, AZ
  10. Retterer et al. (2015) Genet. Med.: (PMID: 26633542)

Forms and Documents

Test Details

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, MAR1, MAR2, MAR5, 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, SEPT4, 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

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.

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)