Cataract

Tests Available

Forms and Documents

Test Details

ABCA3, ADAMTSL4, AGK, AKR1E2, ALDH18A1, BCOR, BEST1, BFSP1, BFSP2, CHMP4B, COL11A1, COL2A1, COL4A1, COL4A2, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, CYP51A1, EOGT, EPHA2, FAM126A, FOXC1, FOXE3, FTL, FYCO1, FZD4, GALK1, GCNT2, GFER, GJA1, GJA3, GJA8, HMX1, HSF4, JAM3, LIM2, LONP1, LSS, MAF, MIP, MIR184, MYH9, NDP, NF2, NHS, OCRL, OPA3, P3H2, PAX6, PITX2, PITX3, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RECQL4, RGS6, RNLS, RRAGA, SC5D, SIL1, SIPA1L3, SIX6, SLC16A12, SLC33A1, TBC1D20, TDRD7, TFAP2A, TMEM70, UNC45B, VIM, VSX2 (CHX10), WDR87, WFS1, WRN
  • Cataracts that are not age-related
  • Cataracts co-occurring with other symptoms
  • Microopthalmia and glaucoma commonly co-occur. Additional eye findings may suggest a syndrome
  • Sporadic or familial inheritance patterns
  • Next-Gen Sequencing
  • Exon Array Dx

Ordering

J958
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab

Billing

81403x1; 81404x1; 81405x2; 81406x1; 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Deng et al. (2014) Eur J Med Genet 57 (2-3):113-22 (PMID: 24384146)
  2. Patel et al. (2017) Hum. Genet. 136 (2):205-225 (PMID: 27878435)
  3. Ma et al. (2016) Hum. Mutat. 37 (4):371-84 (PMID: 26694549)
  4. Shiels et al. (2015) Prog Mol Biol Transl Sci 134 :203-18 (PMID: 26310156)
  5. Aldahmesh et al. (2012) Genetics In Medicine : Official Journal Of The American College Of Medical Genetics 14 (12):955-62 (PMID: 22935719)