Usher Syndrome

Usher syndrome is a group of autosomal recessive disorders involving progressive degeneration of the retina that leads to severe visual impairment, deafness, and variable degrees of vestibular dysfunction. These disorders are divided into three clinical classes and are differentiated by the severity and progression of both the hearing loss and visual impairment and by the absence or presence of vestibular symptoms.

Usher syndrome type 1: It is characterized by profound congenital deafness, pre-pubertal onset of retinitis pigmentosa, and vestibular dysfunction.

Usher syndrome type 2: It is characterized by congenital moderate to severe deafness, early onset of retinitis pigmentosa in the first to second decade of life, and no vestibular dysfunction.

Usher syndrome type 3: It is characterized by variable onset of deafness and of retinitis pigmentosa, and variable impairment of vestibular function.

Tests Available

Forms and Documents

Test Details

CDH23, CLRN1, DFNB31 (WHRN), GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A
  • Confirmation of a clinical diagnosis
  • Recurrence risk assessment
  • Prenatal diagnosis
  • ExonArray CGH

Ordering

908-Usher
3 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81406x1, 81479x8
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Saihan et al., (2009) Curr Opin Neurol 22:19-27
  2. Yan et al., (2010) Journal of Human Genetics 55:327-335
  3. Millan et al. (2011) Journal of Ophthalmology Volume 2011:1-8
  4. Adato et al (2002) Eur J Hum Genet 10:339-350
  5. Bitner-Glindzicz et al., (2000) Nat Genet 26:56-60
  6. Roux et al., (2006) J Med Genet 43:763-768
  7. Adato et al., (1997) Am J Hum Genet 61:813-821
  8. Hilgert et al., (2009) J Hum Med Genet 46:272-276
  9. Bennett S et al., (2004) Pharmacogenomics 5:433-8
  10. Pieke Dahl S et al., (1996 ) J Med Genet 33:753-7
  11. Weston et al., 2000 Am J Hum Genet 66:1199-210
  12. van Wijk et al., (2004) Am J Hum Genet 74:738-744; 13
  13. Aller et al., 2010 Invest Ophthalmol and Vis Sci 51(11):5480-5485
  14. Roux AF et al., (2011) Invest Ophthalmol Vis Sci. 8;52(7):4063-71
  15. Besnard T (2012) Hum Mutat 33(3):504-10

Forms and Documents

Test Details

CDH23, CLRN1, DFNB31 (WHRN), GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A
  • Confirmation of a clinical diagnosis
  • Recurrence risk assessment
  • Prenatal diagnosis
  • Next-Gen Sequencing

Ordering

585
3 weeks
2-5 mL Blood - Lavender Top Tube

Billing

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

References

  1. Saihan et al., (2009) Curr Opin Neurol 22:19-27
  2. Yan et al., (2010) Journal of Human Genetics 55:327-335
  3. Millan et al. (2011) Journal of Ophthalmology Volume 2011:1-8
  4. Adato et al (2002) Eur J Hum Genet 10:339-350
  5. Bitner-Glindzicz et al., (2000) Nat Genet 26:56-60
  6. Roux et al., (2006) J Med Genet 43:763-768
  7. Adato et al., (1997) Am J Hum Genet 61:813-821
  8. Hilgert et al., (2009) J Hum Med Genet 46:272-276
  9. Bennett S et al., (2004) Pharmacogenomics 5:433-8
  10. Pieke Dahl S et al., (1996 ) J Med Genet 33:753-7
  11. Weston et al., 2000 Am J Hum Genet 66:1199-210
  12. van Wijk et al., (2004) Am J Hum Genet 74:738-744; 13
  13. Aller et al., 2010 Invest Ophthalmol and Vis Sci 51(11):5480-5485
  14. Roux AF et al., (2011) Invest Ophthalmol Vis Sci. 8;52(7):4063-71
  15. Besnard T (2012) Hum Mutat 33(3):504-10

Forms and Documents

Test Details

ABHD12, ACTG1, ATP6V1B1, BDP1, BSND, CABP2, CACNA1D, CATSPER2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CIB2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A2, COL4A3, COL4A4, COL4A6, CRYM, DCDC2, DFNA5, DFNB59, DIABLO, DIAPH1, DIAPH3, EDN3, EDNRB, ELMOD3, EPS8, ESPN, ESRRB, EYA1, EYA4, FAM189A2, FAM65B, GATA3, GIPC3, GJA1, GJB1, GJB2 (Cx26), GJB3 (Cx31), GJB6 (Cx30), GPR98, GPSM2, GRHL2, GRXCR1, HARS, HARS2, HGF, HOMER2, HSD17B4, ILDR1, JAG1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LHX3, LOXHD1, LRTOMT, MARVELD2, MCM2, MIR96, MITF, MSRB3, MT-RNR1, MT-TL1, MT-TS1, MYH14, MYH9, MYO15A, MYO1A, MYO1C, MYO1F, MYO3A, MYO6, MYO7A, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PMP22, PNPT1, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, S1PR2, SERPINB6, SIX1, SIX5, SLC17A8, SLC26A4, SLC26A5, SLITRK6, SMPX, SNAI2, SOX10, SOX2, STRC, SYNE4, TBC1D24, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TMPRSS5, 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
  • 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)

Forms and Documents

Test Details

  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with retinal dystrophies
  • 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

Ordering

J905
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81434x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Sahel et al. (2014) Cold Spring Harb Perspect Med 5 (2):a017111 (PMID: 25324231)
  2. Kocur et al. (2002) Br J Ophthalmol 86 (7):716-22 (PMID: 12084735);
  3. Ayuso et al. (2010) Genome Med 2 (5):34 (PMID: 20519033)
  4. Finger et al. (2011) Invest. Ophthalmol. Vis. Sci. 52 (7):4381-9 (PMID: 21447690)
  5. den Hollander et al. (2006) American Journal Of Human Genetics 79 (3):556-61 (PMID: 16909394)
  6. Braun et al. (2013) Human Molecular Genetics 22 (25):5136-45 (PMID: 23918662)
  7. Zernant et al. (2014) Hum. Mol. Genet. 23 (25):6797-806 (PMID: 25082829)
  8. Bauwens et al. (2015) Hum. Mutat. 36 (1):39-42 (PMID: 25346251)
  9. Schulz et al. (2017) Invest. Ophthalmol. Vis. Sci. 58 (1):394-403 (PMID: 28118664)
  10. Beryozkin et al. (2015) Sci Rep 5 :13187 (PMID: 26306921)
  11. Lee et al. (2015) Am. J. Ophthalmol. 160 (2):354-363.e9 (PMID: 25910913)
  12. de Castro-Miro et al. (2016) PLoS ONE 11 (12):e0168966 (PMID: 28005958)
  13. Haer-Wigman et al. (2017) Eur. J. Hum. Genet. 25 (5):591-599 (PMID: 28224992)
  14. Riera et al. (2017) Sci Rep 7 :42078 (PMID: 28181551)
  15. Carss et al. (2017) Am. J. Hum. Genet. 100 (1):75-90 (PMID: 28041643)
  16. Retterer et al. (2015) Genet. Med.: (PMID: 26633542)