Congenital cataracts, hearing loss, and neurodegeneration

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Test Details

ABHD12, ACTB, ACTG1, ADCY1, ADGRV1 (GPR98), AIFM1, ALMS1, ANKH, ATP6V1B1, BDP1, BSND, CABP2, CACNA1D, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CHD7, CIB2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, CRYM, DCDC2, DFNA5, DFNB59, DIABLO, DIAPH1, DIAPH3, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GATA3, GIPC3, GJA1, GJB2(CX26), GJB3(CX31), GJB6(CX30), GPSM2, GRHL2, GRXCR1, HARS, HARS2, HGF, HOMER2, HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LRTOMT, MARVELD2, MCM2, MIR96, MITF, MSRB3, MT-CO1, MT-RNR1, MT-TL1, MT-TS1, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NDP, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PMP22, PNPT1, POLR1D, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, RIPOR2, S1PR2, SALL1, SEMA3E, SERPINB6, SIX1, SIX5, SLC17A8, SLC26A4, SLC26A5, SLC33A1, SLITRK6, SMPX, SNAI2, SOX10, SOX2, STRC, SYNE4, TBC1D24, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, USH1C, USH1G, USH2A, WFS1, WHRN(DFNB31)
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Genetic counseling, especially recurrence risk and prenatal diagnosis.

Ordering

J806
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81430x1, 81431x1
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. Morton et al. (2006) N. Engl. J. Med. 354 (20):2151-64 (PMID: 16707752)
  2. Wroblewska-Seniuk et al. (2017) Pediatr. Res. : (PMID: 27861465)
  3. Hilgert et al. (2009) Mutat. Res. 681 (2-3):189-96 (PMID: 18804553)
  4. Sloan-Heggen et al. (2016) Hum. Genet. 135 (4):441-50 (PMID: 26969326)
  5. Shearer et al. (2010) Proceedings Of The National Academy Of Sciences Of The United States Of America 107 (49):21104-9 (PMID: 21078986)
  6. Sommen et al. (2016) Hum. Mutat. 37 (8):812-9 (PMID: 27068579)
  7. Venkatesh et al. (2015) Med J Armed Forces India 71 (4):363-8 (PMID: 26663965)
  8. Kochhar et al. (2007) Genet. Med. 9 (7):393-408 (PMID: 17666886)
  9. Martínez et al. (2009) Antioxid. Redox Signal. 11 (2):309-22 (PMID: 18837651)