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PAFAH1B1 Gene Lissencephaly type 1 NGS Genetic Test

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PAFAH1B1 Gene Lissencephaly type 1 NGS Genetic Test

Short Name: PAFAH1B1 Lissencephaly Test

Also known as: Lissencephaly Type 1 Genetic Test, PAFAH1B1 Mutation Analysis

PAFAH1B1 Gene Lissencephaly type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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.

PediatricsPediatric🏠 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 confirm the diagnosis of Lissencephaly type 1 by identifying mutations in the PAFAH1B1 gene using next-generation sequencing technology.

Test Code
2747
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 (Next-Generation Sequencing)
Step 1

Sample Collection

Provide detailed clinical history and undergo genetic counseling to draw a pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture.

Step 3

Report Delivery

Sample will be processed for DNA extraction and NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review.
2
During the Test:Sample collection and processing.
3
After the Test:Report generation and consultation.

About This Test

Who Should Get This Test

To confirm the diagnosis of Lissencephaly type 1 by identifying mutations in the PAFAH1B1 gene using next-generation sequencing technology.

How to Prepare

  • Bring valid ID and doctor's prescription
  • Ensure sample is collected in a sterile environment

Doctor's Notes

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

"Early genetic diagnosis is crucial for managing Lissencephaly type 1 and providing appropriate care for affected individuals and families."

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 of blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 24 hours at room temperature
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of mutations in the PAFAH1B1 gene associated with Lissencephaly type 1.
Positive: Pathogenic variant detected, confirms diagnosis
Negative: No pathogenic variants, but clinical correlation needed
Variant of uncertain significance: Requires further evaluation
⚠️ When to Consult a Doctor:

If symptoms of Lissencephaly type 1 are present, or if genetic test results are positive or uncertain.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a substitute for clinical diagnosis

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare infection risk

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Technical errors in sequencing

Compare With Similar Tests

TestPAFAH1B1 Gene Lissencephaly type 1 NGS Genetic TestMRI BrainOther Lissencephaly Gene Tests
ComparisonPAFAH1B1 Gene Lissencephaly type 1 NGS Genetic TestImaging shows brain structure, while genetic test confirms causePAFAH1B1 specific vs. panel tests

Frequently Asked Questions

What is the PAFAH1B1 Gene Lissencephaly type 1 NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the PAFAH1B1 gene, which causes Lissencephaly type 1, a rare brain development disorder.
What are the symptoms of Lissencephaly type 1?
Symptoms include developmental delays, intellectual disability, seizures, difficulty swallowing, poor muscle tone, abnormal eye movements, and small head size.
How is Lissencephaly type 1 diagnosed?
Diagnosis involves clinical evaluation, brain imaging (MRI/CT), and genetic testing to confirm mutations in the PAFAH1B1 gene.
What is the cost of the PAFAH1B1 Gene Lissencephaly type 1 NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for this test.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Who should consider taking this test?
Individuals with symptoms of Lissencephaly type 1, or those with a family history of the disorder, should consider this test.
What does a positive test result mean?
A positive result indicates the presence of a pathogenic mutation in the PAFAH1B1 gene, confirming the diagnosis of Lissencephaly type 1.
Can this test be used for prenatal diagnosis?
Yes, genetic testing can be used for prenatal diagnosis if there is a known family history, but consultation with a genetic counselor is recommended.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting gene mutations, but results should be interpreted in conjunction with clinical findings.
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.

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✓ 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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