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DNA Labs India

PSAP Gene Krabbe disease, atypical NGS Genetic Test

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PSAP Gene Krabbe disease, atypical NGS Genetic Test

Also known as: Krabbe Disease Genetic Test, PSAP Gene Test

PSAP Gene Krabbe disease, atypical 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 Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose Krabbe disease caused by PSAP gene mutations using next-generation sequencing technology, enabling early intervention and genetic counseling.

Test Code
4717
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Krabbe disease.

Method: Blood sample or cheek swab

Step 2

Laboratory Analysis

Your sample is analyzed using NGS Technology in our laboratory.

Step 3

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

1
Before the Test:Genetic counseling and clinical history assessment are recommended before testing.
2
During the Test:Sample collection via blood draw or cheek swab.
3
After the Test:Results are available in 3-4 weeks; follow-up with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

To diagnose Krabbe disease caused by PSAP gene mutations using next-generation sequencing technology, enabling early intervention and genetic counseling.

How to Prepare

  • For blood sample: Standard venipuncture procedure.
  • For cheek swab: Rub the inside of the cheek gently with the swab.
  • Ensure sample is properly labeled and stored.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"This test is crucial for early diagnosis and management of Krabbe disease in atypical cases, aiding in family planning and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood sample or cheek swab

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the PSAP gene.
Positive result: Pathogenic mutation detected, confirming diagnosis of PSAP Gene Krabbe Disease.
Negative result: No pathogenic mutations detected, but clinical correlation is needed.
Variant of uncertain significance: Further testing or family studies may be required.
⚠️ When to Consult a Doctor:

If symptoms of Krabbe disease are present, or if there is a family history of the disorder, consult a geneticist or neurologist for evaluation and counseling.

Risks & Considerations

  • Minimal physical risks from blood draw or cheek swab.
  • Potential psychological impact from test results.
  • Risk of sample contamination or technical errors.

Frequently Asked Questions

What is PSAP Gene Krabbe Disease?
PSAP Gene Krabbe Disease is a rare genetic disorder affecting the nervous system, caused by mutations in the PSAP gene that lead to prosaposin deficiency and toxic substance accumulation.
What are the symptoms of PSAP Gene Krabbe Disease?
Symptoms vary by age: infants may have weakness, irritability, feeding difficulties, and seizures; children and adults may experience loss of muscle control, vision loss, hearing loss, and mental retardation.
How is PSAP Gene Krabbe Disease diagnosed?
Diagnosis is through genetic testing, such as the atypical NGS Genetic Test, which analyzes DNA for mutations in the PSAP gene. Physical exams and blood tests may also be used.
What is the cost of the atypical NGS Genetic Test?
The test costs approximately INR 20,000 at DNA Labs India, with home sample collection available.
What sample is required for the test?
The test can be performed on a blood sample, extracted DNA, or one drop of blood on an FTA card, or a cheek swab.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What is the accuracy of the NGS Genetic Test?
The test uses next-generation sequencing technology for high accuracy in detecting PSAP gene mutations, but results should be interpreted by a healthcare professional.
Can this test be used for prenatal diagnosis?
This test is typically for postnatal diagnosis; prenatal testing may require different methods and genetic counseling.
What should I do if the test is positive?
If positive, consult a geneticist or neurologist for management options, genetic counseling, and family planning.
Is genetic counseling recommended?
Yes, genetic counseling is recommended before and after testing to understand implications and draw a family pedigree chart.
How can I book the test?
You can book the test online through DNA Labs India's website or contact them via phone or WhatsApp for assistance.
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.

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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.

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