Usher Type 2A

Tests Available

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ADGRV1 (GPR98), CDH23, CLRN1, DFNB31 (WHRN), MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A
  • Congenital deafness and/or moderate to severe hearing loss
  • Problems with balance
  • Decreased night vision
  • Retinitis pigmentosa
  • Next-Gen Sequencing
  • Exon Array Dx

Ordering

T006
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab

Billing

81404x2; 81407x1; 81408x2
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Saihan et al., (2009) Curr Opin Neurol 22:19-27 (PMID: 19165952)
  2. Yan et al., (2010) J Hum Genet 55:327-335 (PMID: 20379205)
  3. Millan et al., (2011) J Ophthalmol Volume 2011:1-8 (PMID: 21234346)
  4. Adato et al., (2002) Eur J Hum Genet 10:339-350 (PMID: 12080385)
  5. Bitner-Glindzicz et al., (2000) Nat Genet 26:56-60 (PMID: 10973248)
  6. Roux et al., (2006) J Med Genet 43:763-768 (PMID: 16679490)
  7. Adato et al., (1997) Am J Hum Genet 61:813-821 (PMID: 9382091)
  8. Hilgert et al., (2009) J Hum Med Genet 46:272-276 (PMID: 19357116)
  9. Bennett et al., (2004) Pharmacogenomics 5:433-8 (PMID: 15165179)
  10. Pieke Dahl et al., (1996 ) J Med Genet 33:753-7 (PMID: 8880575)
  11. Weston et al., 2000 Am J Hum Genet 66:1199-210 (PMID: 10729113)
  12. van Wijk et al., (2004) Am J Hum Genet 74:738-744 (PMID: 15015129)
  13. Aller et al., (2010) Invest Ophthalmol and Vis Sci 51(11):5480-5485 (PMID: 20538994)
  14. Roux et al., (2011) Invest Ophthalmol Vis Sci. 8;52(7):4063-71 (PMID: 21436283)
  15. Besnard et al., (2012) Hum Mutat 33(3):504-10 (PMID: 22147658)
  16. Ebermann et al., (2010) The Journal of Clinical Investigation 120(6):1812-23 (PMID: 20440071)

Forms and Documents

Hearing Loss Fact Sheet Test Requisition Test Info Sheet

Test Details

ABHD12, ACTB, ACTG1, ADCY1, 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, FAM65B, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GATA3, GIPC3, GJA1, GJB2, GJB3, GJB6, GPR98, GPSM2, GRHL2, GRXCR1, HARS, HARS2, HGF, HOMER2, HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LRTOMT, MARVELD2, MCM2, MIR96, MITF, MSRB3, 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, 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
  • 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
  • Next-Gen Sequencing
  • Long Range PCR
  • MLPA
  • Multiplex junction-specific PCR
  • Sanger/ABI sequencing

Ordering

J806
6-8 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81430x1, 81431x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

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)