ABHD5 Gene Chanarin-Dorfman syndrome NGS Genetic Test
Short Name: ABHD5 Gene CDS NGS Test
Also known as: CDS Genetic Test, ABHD5 Mutation Analysis, Chanarin-Dorfman DNA Test
ABHD5 Gene Chanarin-Dorfman syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the ABHD5 Gene Chanarin-Dorfman Syndrome NGS Genetic Test is to identify mutations in the ABHD5 gene that cause Chanarin-Dorfman Syndrome. This test confirms diagnosis in symptomatic individuals, aids in carrier detection for family planning, supports differential diagnosis from other metabolic disorders, and guides personalized management strategies. It is recommended for patients with clinical features of CDS or a family history of the condition.
- Test Code
- 1915
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. Ensure to inform the healthcare provider about any medications or recent medical procedures.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect a blood sample from a vein in your arm using standard venipuncture techniques.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ABHD5 Gene Chanarin-Dorfman Syndrome NGS Genetic Test is to identify mutations in the ABHD5 gene that cause Chanarin-Dorfman Syndrome. This test confirms diagnosis in symptomatic individuals, aids in carrier detection for family planning, supports differential diagnosis from other metabolic disorders, and guides personalized management strategies. It is recommended for patients with clinical features of CDS or a family history of the condition.
How to Prepare
- Avoid strenuous activity before sample collection
- Stay hydrated to facilitate blood draw
- Wear loose clothing for easy access to the arm
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for Chanarin-Dorfman Syndrome is crucial for accurate diagnosis, management, and family genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume (less than 3 mL)
- Improper container or labeling
- Visible hemolysis or clotting in the sample
Understanding Your Results
Consult a doctor or genetic counselor if the test result is positive, negative with persistent symptoms, or if you have a family history of Chanarin-Dorfman Syndrome and are planning a family.
Limitations
- ⚠This test detects point mutations and small insertions/deletions in the ABHD5 gene but may not identify large structural variations or epigenetic changes
- ⚠Results require clinical correlation and genetic counseling for interpretation
Risks & Considerations
- ●Minor pain, bruising, or swelling at the blood draw site
- ●Rare risk of infection or fainting
- ●Emotional distress related to test results
Interfering Factors
- ●Hemolyzed or degraded blood samples may affect DNA quality and test accuracy
- ●Recent blood transfusions could dilute patient DNA
Compare With Similar Tests
| Test | ABHD5 Gene Chanarin-Dorfman syndrome NGS Genetic Test | Skin Biopsy for Lipid Droplets | Liver Function Tests | Conventional Sanger Sequencing |
|---|---|---|---|---|
| Comparison | ABHD5 Gene Chanarin-Dorfman syndrome NGS Genetic Test |
Frequently Asked Questions
What is Chanarin-Dorfman Syndrome?
What are the common symptoms of CDS?
How is Chanarin-Dorfman Syndrome diagnosed?
What does the ABHD5 Gene NGS Genetic Test involve?
What is the cost of the ABHD5 Gene CDS NGS Test?
Is the test covered by insurance?
How is the blood sample collected?
What is the turnaround time for results?
Are there any risks associated with the test?
How should I prepare for the test?
What does a positive test result mean?
Can this test be used for carrier detection?
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Reference Laboratory Services
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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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