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GFAP Gene Alexander Disease NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

GFAP Gene Alexander Disease NGS Genetic Test

Short Name: GFAP NGS Genetic Test

Also known as: Alexander Disease GFAP Gene Test, GFAP Gene Mutation Analysis

GFAP Gene Alexander Disease NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing (confirmation) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are generated within 3 to 4 weeks after the sample reaches the DNA Labs India facility.. Free home collection in 300+ cities across India.

Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To detect disease-causing mutations in the GFAP gene using NGS technology, thereby confirming a diagnosis of Alexander disease and enabling informed medical and reproductive decisions.

Test Code
3858
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generated within 3 to 4 weeks after the sample reaches the DNA Labs India facility.
Fasting Required
No
Method
Next Generation Sequencing (NGS), Sanger Sequencing (confirmation)
Step 1

Sample Collection

No specific preparation. However, genetic counseling is recommended prior to testing. Please bring a valid ID and the test requisition form.

Method: Venipuncture / Fingerprick

Step 2

Laboratory Analysis

A trained phlebotomist will collect a small amount of blood from your arm. For FTA card, a simple fingerprick is sufficient.

Step 3

Report Delivery

You can resume normal activities immediately. The sample is sent to the lab for processing.

Timeline: Reports are generated within 3 to 4 weeks after the sample reaches the DNA Labs India facility.

Patient Instructions

1
Before the Test:A pre-test genetic counseling session is recommended to discuss the purpose, scope, and possible outcomes of the test. A pedigree chart may be drawn to understand inheritance patterns.
2
During the Test:The test involves standard blood collection or dried blood spot sampling. The sample is then processed in the laboratory using NGS technology.
3
After the Test:After the test, you will receive a detailed clinical report. You may also receive raw data files as requested. A follow-up consultation with the referring doctor or genetic counselor is advised.

About This Test

Who Should Get This Test

To detect disease-causing mutations in the GFAP gene using NGS technology, thereby confirming a diagnosis of Alexander disease and enabling informed medical and reproductive decisions.

How to Prepare

  • Venous blood to be collected in an EDTA tube.
  • FTA card samples must be air-dried and placed in a protective pouch.
  • Samples must be labeled with patient name, date of birth, and date of collection.
  • If sending from outside, ensure the sample is packed in a leak-proof container.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic counseling is recommended for families with Alexander disease to understand inheritance patterns and recurrence risks."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume1 mL Blood or 2-3 drops on FTA Card
ContainerEDTA tube / FTA card
Collection MethodVenipuncture / Fingerprick

Sample Stability

Blood sample: 24 hours at 2-8°C
Extracted DNA: 1 week at 2-8°C
FTA card: 1 month at room temperature
Sample Rejection Criteria:
  • Clotted blood
  • Hemolyzed sample
  • Inadequate sample volume
  • Mislabeled sample

Understanding Your Results

The test report will be interpreted by a clinical geneticist. Variants are reported as per ACMG guidelines. A positive result confirms the diagnosis of Alexander disease, while a negative result significantly reduces the likelihood of a GFAP-related disorder.
No pathogenic variants detected (Negative): No GFAP mutation found; clinical diagnosis may be reconsidered.
Heterozygous pathogenic variant identified (Positive): Confirms diagnosis of Alexander disease.
Variant of uncertain significance (VUS): Further analysis/invitro studies may be required; genetic counseling is recommended.
Likely pathogenic variant identified: Strongly suggests Alexander disease; clinical correlation needed.
⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist to discuss the implications of the test result, especially if a pathogenic variant is found.

Risks & Considerations

  • ●Minor bruising at the injection site
  • ●In rare cases, anxiety or discomfort during blood draw
  • ●Psychological impact of a positive genetic result (addressed through counseling)

Interfering Factors

  • ●Poor DNA quality leading to failed sequencing.
  • ●Contamination with maternal DNA in prenatal samples.
  • ●Presence of large deletions/duplications not detectable by standard NGS.
  • ●Mislabeling or sample mix-up.

Compare With Similar Tests

TestGFAP Gene Alexander Disease NGS Genetic Test
ComparisonGFAP Gene Alexander Disease NGS Genetic Test
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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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.

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