ABCD3 Gene Bile acid synthesis defect type 5, congenital NGS Genetic Test
Short Name: ABCD3 Genetic Test
ABCD3 Gene Bile acid synthesis defect type 5, congenital NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood 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
The purpose of this test is to diagnose ABCD3 Gene Bile Acid Synthesis Defect Type 5 by detecting mutations in the ABCD3 gene using Next Generation Sequencing (NGS) technology, enabling accurate clinical management.
- Test Code
- 1893
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with bile acid synthesis defect type 5.
Laboratory Analysis
Your sample is analyzed using NGS Technology in our laboratory.
Report Delivery
A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose ABCD3 Gene Bile Acid Synthesis Defect Type 5 by detecting mutations in the ABCD3 gene using Next Generation Sequencing (NGS) technology, enabling accurate clinical management.
How to Prepare
- Blood sample collected via venipuncture
- Store at ambient room temperature
- No special preparation required
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
- Hemolyzed sample
- Insufficient volume
- Improper labeling
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of ABCD3 Gene Bile Acid Synthesis Defect Type 5. Clinical correlation and genetic counseling recommended.
Negative for pathogenic variant
No mutations detected in the ABCD3 gene. Does not rule out other conditions; further testing may be needed.
Variant of uncertain significance
Genetic variant found but significance unknown. Requires follow-up and family studies.
Consult a doctor if symptoms like jaundice, itching, fatigue, or delayed growth are present, or if there is a family history of bile acid synthesis defects.
Limitations
- ⚠Test may not detect all mutations
- ⚠Results require clinical correlation
- ⚠Limited to ABCD3 gene analysis
Risks & Considerations
- ●Minor bruising at blood draw site
- ●Rare infection risk
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Incorrect sample handling
Frequently Asked Questions
What is ABCD3 Gene Bile Acid Synthesis Defect Type 5?
What are the symptoms of this disorder?
How is ABCD3 Gene Bile Acid Synthesis Defect Type 5 diagnosed?
What is the cost of the NGS Genetic Test in India?
Is home sample collection available for this test?
What is the turnaround time for receiving reports?
Is fasting required before the test?
How is the test performed?
What are the treatment options for this condition?
Is the test covered by insurance or government schemes?
Who should consider getting tested for this disorder?
How accurate is the NGS Genetic Test for this diagnosis?
Related Tests
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.