Congenital cataract gene panel

Congenital Cataract Gene Panel

Overview
The Congenital Cataract Gene Panel is a genetic test that identifies mutations in genes associated with congenital and early-onset cataracts. It helps determine the underlying genetic cause of lens opacity present at birth or developing during infancy and childhood, enabling accurate diagnosis, prognosis, and family counseling.

Who Should Get Tested?

• Infants born with cataracts
• Children with bilateral or unexplained cataracts
• Individuals with a family history of congenital cataracts
• Patients with cataracts associated with developmental delay or genetic syndromes
• Couples seeking genetic counseling due to inherited eye disorders

What Does the Test Detect?

The panel analyzes multiple genes linked to congenital cataracts, including:

• CRYAA, CRYAB, CRYBA1, CRYBB2
• GJA3, GJA8
• HSF4
• MIP
• PAX6
• BFSP2
• And several other clinically relevant genes

Symptoms That May Indicate Testing

• Cloudy or white appearance of the eye lens
• Poor vision from birth
• Nystagmus (rapid eye movements)
• Strabismus (crossed eyes)
• Delayed visual development
• Family history of inherited cataracts

Benefits of the Test

• Confirms the genetic cause of congenital cataracts
• Supports early diagnosis and treatment planning
• Helps predict inheritance patterns and recurrence risk
• Guides genetic counseling for affected families
• Assists in screening at-risk family members
• May identify syndromic conditions associated with cataracts

Sample Required

• Peripheral Blood: 3–5 mL (EDTA)

Method

• Next-Generation Sequencing (NGS)
• Confirmation of selected variants by Sanger Sequencing (when applicable)

Turnaround Time

• Approximately 3–6 weeks (may vary depending on laboratory workflow)

Why Choose Advanced BioCare Laboratories?

• Comprehensive analysis of clinically significant cataract-related genes
• High-quality NGS technology with expert interpretation
• Accurate and reliable genetic reporting
• Supports ophthalmologists, pediatricians, and genetic counselors in patient management