Spinocerebellar ataxia

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

81460x1, 81465x1, 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. 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)

Test Details

AAAS, AARS, AARS2, ABCA1, ABCA7, ABCD1, ABHD12, ACE, ACTA2, ADCK3, ADCY5, ADRA2B, ADSSL1, AFG3L2, AIMP1, AIP, ALDH18A1, ALPL, AMACR, ANG, ANO10, ANO3, ANO5, AP2S1, AP5Z1, APP, ARHGEF10, ARL6IP1, ARSA, ARSG, ARSI, ASPA, ASS1, ATAD3A, ATF4, ATL1, ATL3, ATM, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2B2, ATP2B3, ATP2B4, ATP6AP2, ATP7B, BAG3, BIN1, BSCL2, BVES, C10orf2, C12ORF65, C19orf12, CACNA1A, CACNA1G, CACNA1H, CACNA1S, CAMTA2, CAPN1, CAPN3, CAV3, CCDC88C, CECR1, CEP164, CHCHD10, CHCHD2, CHMP2B, CISD2, CIZ1, CLCN1, CLCN2, CLN5, CNNM2, CNTN2, COASY, COL12A1, COL13A1, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COMT, COQ5, CP, CPT1C, CRYAB, CSF1R, CTC1, CTSA, CTSF, CYP27A1, CYP7B1, DARS2, DCAF17, DCAF8, DCTN1, DDHD2, DES, DHTKD1, DLGAP4, DMD, DNA2, DNAJB2, DNAJB6, DNAJC13, DNAJC3, DNAJC5, DNAJC6, DNM2, DNMT1, DRD3, DRP2, DYSF, EBP, EEF2, EGR2, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4G1, ELOVL4, ELOVL5, EMD, EPB41L4A, EPM2A, EPRS, ERBB4, ERLIN1, ERLIN2, F2, FA2H, FAN1, FARS2, FAT2, FBLN5, FBXO38, FBXO7, FDX1L, FGA, FGB, FGD4, FGF14, FHL1, FIG4, FKRP, FKTN, FLNC, FLRT1, FLVCR1, FTL, FUS, FXN, GAA, GALC, GAN, GARS, GBA, GBE1, GCDH, GCH1, GDAP1, GDAP2, GFAP, GFPT1, GIGYF2, GJB1, GJC2, GLA, GLB1, GLDC, GLRA1, GMPPB, GNAL, GNB4, GNE, GRM1, GRN, GTPBP2, GYG1, HABP2, HADHB, HARS, HCRT, HEPACAM, HEXA, HEXB, HINT1, HK1, HNRNPA1, HNRNPA2B1, HNRNPDL, HPCA, HRAS, HSD17B4, HSPB1, HSPB3, HSPB8, HSPD1, IBA57, IDH1, IFRD1, IL6, INF2, IRF2BPL, ISPD, ITM2B, ITPR1, ITPR3, JPH1, KCNA1, KCNA2, KCNB2, KCNC3, KCNC4, KCND3, KCNJ11, KCNJ2, KCTD17, KIAA0196, KIAA1161, KIF1A, KIF1B, KIF1C, KIF5A, KLC2, KLHL1, KLHL9, KY, LAMP2, LDB3, LINGO1, LITAF, LMNA, LMNB1, LRP1, LRRK2, LRSAM1, LYST, MAG, MAPT, MARS, MATR3, MCCC1, MCCC2, MECR, MEN1, MFN2, MFSD8, MGME1, MME, MOG, MORC2, MPV17, MPZ, MRE11A, MSTO1, MTHFR, MTMR14, MTR, MTTP, MYF6, MYH14, MYH2, MYH7, MYOT, MYPN, NAGS, NARS2, NDRG1, NDUFS7, NEFH, NEFL, NEU1, NF2, NHLRC1, NIPA1, NOL3, NOTCH3, NPC1, NPC2, NTN1, OPA1, OPA3, OPTN, ORAI1, OTC, P2RY12, PABPN1, PANK2, PARK7, PDE2A, PDE8B, PDGFB, PDGFRB, PDHA1, PDK3, PDYN, PEX10, PFN1, PGK1, PHKA1, PHYH, PI4K2A, PIK3R5, PINK1, PLD3, PLEKHG5, PLP1, PMM2, PMP2, PMP22, PMPCA, PNKD, PNKP, PNPLA2, PNPLA6, POLG, POLG2, POLR3A, POMGNT2, PPT1, PREX2, PRF1, PRKCG, PRKRA, PRNP, PRPS1, PRRT2, PRX, PSEN1, PSEN2, PSMB8, PTPLA, PUM1, PYGM, QKI, RAB39B, RAB7A, RANBP2, REEP1, REEP2, RNASEH1, RNF170, RNF213, RNF216, RRM2B, RTN2, RYR1, SACS, SAMD9L, SAMHD1, SAR1B, SBF1, SCARB2, SCN10A, SCN4A, SCP2, SDHA, SDHB, SEMA3E, SEPT9, SERPINI1, SETX, SGCA, SGCB, SGCD, SGCE, SGCG, SGPL1, SH3BP4, SH3TC2, SLC12A3, SLC16A2, SLC1A3, SLC20A2, SLC22A5, SLC25A15, SLC25A32, SLC25A46, SLC30A10, SLC4A1, SLC52A3, SLC5A7, SLC6A19, SLC6A8, SLC9A1, SMN1, SNCA, SOD1, SORL1, SPAST, SPEG, SPG11, SPG20, SPG21, SPG7, SPR, SPTBN2, SPTLC1, SQSTM1, STIM1, STUB1, SUFU, SYNE1, SYNE2, SYNJ1, SYT14, TACR3, TAF1, TAF4, TARDBP, TBK1, TBXAS1, TCAP, TDP1, TENM4, TERT, TFG, TGFB1, TGM6, TH, THAP1, TIA1, TIMM8A, TK2, TMEM240, TMEM43, TOP3A, TOR1A, TOR1AIP1, TPK1, TREM2, TRIM32, TRNT1, TRPA1, TRPC3, TRPV4, TTBK2, TTC19, TTN, TTPA, TTR, TYMP, TYROBP, UBAP1, UBQLN2, UBQLN4, UBR4, UCHL1, VAMP1, VAPB, VCP, VEGFA, VPS13A, VPS13C, VPS13D, VPS35, VRK1, VWA3B, VWF, WFS1, XK, XPNPEP3, XPR1, XRCC1, ZFYVE26, ZFYVE27
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/management decisions
  • Recurrence risk assessment

Ordering

TK79
6 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

81286x1; 81324x1; 81325x1; 81329x1; 81403x2; 81404x4; 81405x1; 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.

Test Details

ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, CACNA1A
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/management decisions
  • Recurrence risk assessment

Ordering

TH83
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

81178x1; 81179x1; 81180x1; 81181x1; 81182x1; 81184x1
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.

Test Details

ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, CACNA1A
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/management decisions
  • Recurrence risk assessment

Ordering

TH83
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

81178x1; 81179x1; 81180x1; 81181x1; 81182x1; 81184x1
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.