PEX5 Gene Rhizomelic chondrodysplasia punctata type 5 NGS Genetic Test
PEX5 Gene Rhizomelic chondrodysplasia punctata type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To detect mutations in the PEX5 gene for the diagnosis of Rhizomelic chondrodysplasia punctata type 5 (RCDP Type 5), enabling early intervention and management.
- Test Code
- 2787
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Clinical history assessment and genetic counseling session to draw a pedigree chart of affected family members.
Method: Blood draw or FTA card collection
Laboratory Analysis
Blood sample collection via venipuncture or one drop blood on FTA card.
Report Delivery
Sample is transported to the laboratory under ambient room temperature for NGS analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the PEX5 gene for the diagnosis of Rhizomelic chondrodysplasia punctata type 5 (RCDP Type 5), enabling early intervention and management.
How to Prepare
- Provide detailed clinical history of the patient
- Undergo genetic counseling to discuss family history and test implications
- Ensure sample is collected in a sterile environment
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Mutation detected
Consistent with diagnosis of RCDP Type 5; clinical correlation and genetic counseling recommended.
No mutation detected
Unlikely RCDP Type 5; consider other genetic or clinical causes if symptoms persist.
If symptoms of RCDP Type 5 are present, such as short stature, joint issues, or developmental delays, or if there is a family history of the condition.
Frequently Asked Questions
What is RCDP Type 5?
What are the symptoms of RCDP Type 5?
How is the PEX5 gene test performed?
What is the cost of the test?
Is home sample collection available?
How long does it take to get results?
Who should consider this test?
Is fasting required for the test?
What is NGS technology?
How accurate is the test?
What if a mutation is detected?
How do I prepare for the test?
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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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