Cataract Panel

Concurrent analysis of multiple genes associated with cataracts (occulsions of the lens of the eye which block or scatter light).  

NY Approved

Test Overview

Clinical Utility

  • 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

Test Details

Genes

ABCA3, ABHD5, ADAMTSL4, AGK, AKR1E2, ALDH18A1, BCOR, BEST1, BFSP1, BFSP2, CHMP4B, COL11A1, COL2A1, COL4A1, COL4A2, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, CYP51A1, EBP, EPG5, EPHA2, ERCC2, ERCC5, ERCC6, ERCC8, EYA1, FAM126A, FOXC1, FOXE3, FTL, FYCO1, FZD4, GALK1, GALT, GCNT2, GFER, GJA1, GJA3, GJA8, HMX1, HSF4, JAM3, LIM2, LONP1, LSS, MAF, MAN2B1, MIP, MIR184, MYH9, NDP, NF2, NHS, OCRL, OPA3, PAX6, PEX11B, PEX7, PITX2, PITX3, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RECQL4, RGS6, RNLS, RRAGA, SC5D, SIL1, SIPA1L3, SIX6, SLC16A12, SLC33A1, TBC1D20, TDRD7, TFAP2A, TMEM70, UNC45B, VIM, VSX2, WDR87, WFS1, WRN

Conditions

  • Axenfeld-Rieger Syndrome
  • Branchiooculofacial Syndrome
  • Cataract
  • Cataract 21
  • Cataract 30
  • Cataract 36
  • Cataract 40
  • Cataract 41
  • Cataract 43
  • Cataract 45
  • Cataract 5
  • Cerebrotendinous xanthomatosis (CTX)
  • Chanarin-Dorfman syndrome
  • Cutis Laxa
  • Familial Exudative Vitreoretinopathy
  • Galactokinase deficiency
  • Galactosemia
  • Hereditary Spastic Paraplegia (HSP)
  • Hypomyelination and Congenital Cataract (HCC)
  • Lowe Syndrome (Oculocerebrorenal syndrome of Lowe)
  • Marshall syndrome
  • Norrie Disease
  • Rhizomelic chondrodysplasia punctata (RCDP)
  • Stickler syndrome

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: J958
CPT Codes*: 81403x1, 81404x1, 81405x2, 81406x2, 81408x1, 81479x3
ABN Required: No
Turnaround Time**: 4 weeks
Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: Buccal Swabs

*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.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

Resources

Test Documents

Billing

Targeted Variant Testing

FAQs