Amniotic Fluid/ Chorionic Villus Sample/Peripheral Venous Blood/Cord blood,/Extracted DNA/Dry Blood Spot
Cockayne Syndrome Gene Panel
Test Name
Cockayne Syndrome Gene Panel by NGS (Next-Generation Sequencing)
Sample Type
- Peripheral Blood / EDTA Blood
Test Method
- NGS Sequencing with bioinformatics analysis
- Optional Sanger confirmation for pathogenic variants
Purpose of the Test
The Cockayne Syndrome Gene Panel is used to identify genetic mutations associated with Cockayne Syndrome (CS) and related DNA repair disorders. This test helps in:
- Early diagnosis
- Confirmation of suspected genetic conditions
- Carrier screening
- Genetic counseling
- Prenatal or family risk assessment
Genes Commonly Included
- ERCC6 (CSB)
- ERCC8 (CSA)
- Additional related DNA repair genes may also be analyzed depending on the panel design.
Clinical Indications
Recommended for individuals with:
- Growth failure
- Developmental delay
- Microcephaly
- Photosensitivity
- Premature aging features
- Hearing or vision problems
- Neurological abnormalities
- Suspected DNA repair disorders
Symptoms Associated with Cockayne Syndrome
- Poor growth and low weight gain
- Delayed developmental milestones
- Sensitivity to sunlight
- Progressive neurological decline
- Vision and hearing impairment
- Thin, aged appearance
- Difficulty walking or coordination issues
Turnaround Time
Interpretation
- Detects pathogenic or likely pathogenic variants
- Results should be interpreted along with clinical findings and genetic counseling
Benefits of the Test
- Accurate molecular diagnosis
- Helps guide patient management
- Supports family planning decisions
- Enables early intervention and monitoring
Recommended For
- Pediatric patients with unexplained developmental disorders
- Individuals with suspected hereditary neurodegenerative conditions
- Families with a history of Cockayne Syndrome
