PSAP Gene Metachromatic leukodystrophy due to Saposin B deficiency NGS Genetic Test
Short Name: PSAP Gene NGS (Saposin B)
Also known as: MLD due to Saposin B deficiency Genetic Test, PSAP Gene Mutation NGS Test, Saposin B Deficiency DNA Test
PSAP Gene Metachromatic leukodystrophy due to Saposin B deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in The test report will be delivered within 3-4 weeks from the date of sample receipt.. 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 this test is to confirm or rule out saposin B deficiency as the cause of metachromatic leukodystrophy by detecting disease-causing mutations in the PSAP gene using next-generation sequencing.
- Test Code
- 4290
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- The test report will be delivered within 3-4 weeks from the date of sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting required. A pre-test genetic counseling session is recommended to review the patient’s clinical history and draw a pedigree chart of affected family members.
Method: Venipuncture / FTA card blood spot
Laboratory Analysis
A simple blood draw or FTA card spot collection; minimal pain.
Report Delivery
No specific precautions; you may resume normal activities.
Timeline: The test report will be delivered within 3-4 weeks from the date of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm or rule out saposin B deficiency as the cause of metachromatic leukodystrophy by detecting disease-causing mutations in the PSAP gene using next-generation sequencing.
How to Prepare
- No prior dietary restrictions
- Provide a signed consent form
- Bring any previous biochemical or genetic testing reports
- A requisition form with clinical history is mandatory
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"In families with genetic leukodystrophies, preconception and prenatal counseling is essential. A confirmed molecular diagnosis can guide family planning and reproductive decisions effectively."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or inadequately labeled samples
- Clotted samples
- Samples not reaching the laboratory within the stability window
- Missing clinical history or consent
Understanding Your Results
Consult your referring neurologist or a clinical geneticist to discuss the test results, disease management, and genetic counseling for family members.
Limitations
- ⚠Single-gene analysis only; does not detect ARSA-related MLD or other genetic causes of leukodystrophy
- ⚠Large deletions/duplications involving PSAP may not be reliably identified by standard NGS
- ⚠Variants in non-coding regulatory regions or deep intronic regions are not examined
- ⚠Results should be interpreted in the context of clinical and biochemical findings
Risks & Considerations
- ●Bruising, discomfort, or rare infection at the venipuncture site
- ●No significant health risks associated with the test
Interfering Factors
- ●Insufficient DNA quality or quantity
- ●Contamination during sample handling or collection
- ●Variants in highly repetitive regions may not be covered effectively
- ●Presence of pseudogene or homologous sequences may impact variant calling
Compare With Similar Tests
| Test | PSAP Gene Metachromatic leukodystrophy due to Saposin B deficiency NGS Genetic Test | ARSA Gene Sequencing | Leukodystrophy NGS Panel | Whole Exome Sequencing | Arylsulfatase A Enzyme Assay | Urine Sulfatide Analysis |
|---|---|---|---|---|---|---|
| Comparison | PSAP Gene Metachromatic leukodystrophy due to Saposin B deficiency NGS Genetic Test |
Frequently Asked Questions
What is the cost of the PSAP gene NGS genetic test?
What is the PSAP gene?
What is metachromatic leukodystrophy due to Saposin B deficiency?
Why is NGS used for this test?
What sample is required?
Do I need to fast before the test?
How long does it take to get reports?
Can this test be done for carrier screening?
Will I receive raw data files?
Is home sample collection available?
Who should undergo this test?
What does a negative result mean?
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₹20,000Reference 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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