Test Name
Bilateral Congenital or Childhood Onset Cataracts Panel
Test Code
OPE1004
Test Category
Gene Panels
Test Subcategory
Ophthalmology
Disease(s) Targeted
Bilateral congenital or childhood onset cataracts
Who Is The Test For?
Patients with a family history, clinical suspicion, or diagnosis of bilateral congenital or childhood onset cataracts.
Test Approach
Whole exome sequencing (WES) with in silico gene panel analysis.
No. of Genes
118
Panel Content
ABHD12, ADAMTS10, AGK, AGPS, ALDH18A1, ANAPC1, ATAD3A, B3GLCT, BCOR, BFSP1, BFSP2, CDK9, CHMP4B, COG4, COL11A1, COL18A1, COL2A1, COL4A1, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, CYP27A1, CYP51A1, DHCR7, DNMBP, EIF2B2, EPHA2, ERCC2, ERCC3, ERCC6, ERCC8, FAR1, FOSL2, FOXE3, FTL, FYCO1, GALK1, GALT, GCNT2, GEMIN4, GFER, GJA3, GJA8, GNPAT, GTF2H5, HMX1, HSF4, HTRA2, HYCC1, INPP5K, INTS1, JAM3, LCAT, LETM1, LIM2, LONP1, LSS, MAF, MAN2B1, MED27, MIP, MIR184, MSMO1, MYH9, NACC1, NDP, NF2, NHS, NUP188, OCRL, OPA3, P3H2, PAX6, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIK3C2A, PITX3, PLOD3, POLG, PXDN, RAB18, RAB3GAP1, RAB3GAP2, SC5D, SIL1, SLC16A12, SLC2A1, SLC33A1, SRD5A3, SREBF1, TDRD7, TFAP2A, VIM, VPS4A, VSX2, WFS1, WRN, XYLT2, ZNF526
Deliverables
Turnaround Time
Specimen Requirements
For detailed information about the sample requirements, please consult our clinical sample requirements page.