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Cataract Panel

New York
Approved


Genes

CRYBB3, ABCA3, ABHD5, 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, 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

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

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

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

J958

CPT Codes*

81403x1; 81404x1; 81405x2; 81406x1; 81479x1

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.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.