Neurodegeneration with Brain Iron Accumulation (NBIA)

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.

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)

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.

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)

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

ADAR, ADCY5, AFG3L2, ANO3, APTX, ARSA, ATM, ATP13A2, ATP1A2, ATP1A3, ATP6AP2, ATP7B, BCAP31, C19orf12, CACNA1A, CACNA1B, CHCHD2, COASY, CP, CYP27A1, DCAF17, DCTN1, DDC, DLAT, DNAJC12, DNAJC5, DNAJC6, ECHS1, FA2H, FBXO7, FITM2, FTL, FUCA1 , GBA, GCDH, GCH1, GLRA1, GNAL, GNAO1, HEXA, HPCA, HPRT1, KCNJ6, KCNMA1, KCTD17, KMT2B, LRRK2, MAPT, MARS2, MCOLN1, MECR, MRE11, NKX2-1, NPC1, NPC2, NUBPL, NUS1, PANK2, PARK7, PDGFB, PDGFRB, PINK1, PLA2G6, PNKD, PNKP, POLG, POLR3B, PRKN, PRKRA, PRRT2, PTS, RAB39B, SCP2, SERAC1, SGCE, SLC16A2, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC6A3, SMPD1, SNCA, SPAST, SPR, SQSTM1, SUCLA2, SYNJ1, TH, THAP1, TIMM8A, TOR1A, TOR1AIP1, TPK1, TPP1, TRAPPC11, TUBB4A, TWNK, VPS13A, VPS35, WDR45, XPR1, ZFYVE26
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/ management decisions
  • Recurrence risk assessment
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies IF appropriate

Ordering

T402
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

81404x5; 81405x2; 81406x2; 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.

Forms and Documents

Test Details

ADAR, ADCY5, AFG3L2, ANO3, APTX, ARSA, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, BCAP31, C19orf12, CACNA1A, CACNA1B, COASY, CP, CYP27A1, DCAF17, DDC, DLAT, DNAJC12, ECHS1, FA2H, FITM2, FTL, FUCA1 , GCDH, GCH1, GLRA1, GNAL, GNAO1, HEXA, HPCA, HPRT1, KCNJ6, KCNMA1, KCTD17, KMT2B, MARS2, MCOLN1, MECR, MRE11, NKX2-1, NPC1, NPC2, NUBPL, PANK2, PDGFB, PDGFRB, PLA2G6, PNKD, PNKP, POLR3B, PRKRA, PRRT2, PTS, SCP2, SERAC1, SGCE, SLC16A2, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC6A3, SPAST, SPR, SQSTM1, SUCLA2, SYNJ1, TH, THAP1, TIMM8A, TOR1A, TOR1AIP1, TPK1, TPP1, TRAPPC11, TUBB4A, VPS13A, WDR45, XPR1
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/ management decisions
  • Recurrence risk assessment
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies IF appropriate

Ordering

T403
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

81404x4; 81405x2; 81406x2; 81407x1; 81408x1
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.