Skip to main content
DNA Labs India

PSAP Gene Prosaposin deficiency NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PSAP Gene Prosaposin deficiency NGS Genetic Test

Short Name: PSAP Gene NGS Test

Also known as: Prosaposin Deficiency Test, PSAP Gene Analysis, PSAP Deficiency NGS Test

PSAP Gene Prosaposin deficiency 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.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose PSAP gene prosaposin deficiency for early intervention, genetic counseling, and personalized management of neurological symptoms.

Test Code
2218
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
Step 1

Sample Collection

Genetic counseling recommended; provide clinical history of patient and family.

Method: Venipuncture for blood, FTA card for dried blood spot

Step 2

Laboratory Analysis

Standard blood draw or FTA card collection procedure.

Step 3

Report Delivery

Sample transported to laboratory under appropriate conditions for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor and provide detailed clinical history.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Results available in 3-4 weeks; follow up with healthcare provider for interpretation.

About This Test

Who Should Get This Test

To diagnose PSAP gene prosaposin deficiency for early intervention, genetic counseling, and personalized management of neurological symptoms.

How to Prepare

  • Collect blood in EDTA tube or use FTA card for blood drop
  • Label samples with patient details
  • Maintain sample at room temperature or as specified

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic testing for PSAP deficiency is vital for early diagnosis and management, especially in families with a history of neurological symptoms."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL for blood
ContainerEDTA tube for blood, FTA card for blood drop
Collection MethodVenipuncture for blood, FTA card for dried blood spot

Sample Stability

Blood samples: Stable for 7 days at 4°C
FTA cards: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results are interpreted based on the presence or absence of pathogenic variants in the PSAP gene, following ACMG guidelines.
Positive: Pathogenic variants detected, indicating PSAP deficiency
Negative: No pathogenic variants detected, but clinical correlation advised
Variant of Uncertain Significance (VUS): Further testing or family studies may be needed
⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if symptoms persist, for genetic counseling, or after receiving positive results.

Limitations

  • Cannot detect all types of mutations (e.g., large rearrangements in some cases)
  • Requires genetic counseling for interpretation
  • Results may include variants of uncertain significance (VUS)

Risks & Considerations

  • Minimal risks from blood draw, such as bruising or infection

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Hemolyzed blood samples

Compare With Similar Tests

TestPSAP Gene Prosaposin deficiency NGS Genetic TestWhole Exome SequencingLysosomal Storage Disorders Panel
ComparisonPSAP Gene Prosaposin deficiency NGS Genetic Test

Frequently Asked Questions

What is PSAP Gene Prosaposin Deficiency?
It is a rare genetic disorder caused by mutations in the PSAP gene, affecting the nervous system and leading to symptoms like developmental delays and seizures.
What are the symptoms of PSAP deficiency?
Symptoms include developmental delays, intellectual disability, seizures, ataxia, hearing loss, blindness, peripheral neuropathy, and organomegaly.
How is PSAP deficiency diagnosed?
Diagnosis is through genetic testing, specifically NGS (Next-Generation Sequencing) to analyze the PSAP gene for mutations.
What is NGS Genetic Testing?
NGS is a high-throughput sequencing technology that can analyze multiple genes simultaneously, providing detailed genetic information for disorders like PSAP deficiency.
What is the cost of the PSAP gene test in India?
The cost is approximately INR 20000 at DNA Labs India.
Is the test covered by insurance?
Coverage varies; patients should check with their insurance provider. It is often not covered for genetic tests.
What samples are required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
Is home collection available?
Yes, free home sample collection is available for online bookings across India.
What should I do before the test?
Undergo genetic counseling and provide clinical history of the patient and family members.
How accurate is the test?
The test uses advanced NGS technology for high accuracy in detecting mutations, but interpretation should be done by a geneticist.
Where can I get the test done?
DNA Labs India offers this test with home collection in numerous cities nationwide; check our website for availability.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

Related Tests

For Hospitals & Clinics

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.

LIMS Integration

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.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.