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ALDH7A1 Gene Pyridoxine-dependent epilepsy NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ALDH7A1 Gene Pyridoxine-dependent epilepsy NGS Genetic Test

Short Name: ALDH7A1 PDE NGS Test

Also known as: PDE Genetic Test, ALDH7A1 Mutation Analysis, Pyridoxine-dependent Epilepsy NGS Test

ALDH7A1 Gene Pyridoxine-dependent epilepsy 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 from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic TestInfants and Children🏠 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 diagnose pyridoxine-dependent epilepsy by identifying mutations in the ALDH7A1 gene through NGS, enabling early and targeted treatment with pyridoxine supplementation.

Test Code
1794
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Genetic counseling session recommended to discuss test implications and family history.

Method: Venipuncture or FTA card application

Step 2

Laboratory Analysis

Blood draw performed by a trained phlebotomist using sterile techniques.

Step 3

Report Delivery

Sample transported under ambient conditions to the laboratory for processing.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Consult a genetic counselor to discuss test purpose, implications, and family history.
2
During the Test:Blood sample collection or DNA extraction; test involves NGS technology in a laboratory.
3
After the Test:Results reviewed by a geneticist; genetic counseling provided for interpretation and next steps.

About This Test

Who Should Get This Test

To diagnose pyridoxine-dependent epilepsy by identifying mutations in the ALDH7A1 gene through NGS, enabling early and targeted treatment with pyridoxine supplementation.

How to Prepare

  • Ensure proper patient identification and sample labeling
  • Use sterile equipment for blood collection
  • For FTA card, apply one drop of blood and air-dry
  • Avoid hemolysis during blood draw

Doctor's Notes

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

"Early genetic testing for ALDH7A1 mutations can guide targeted treatment with pyridoxine, significantly improving patient outcomes and reducing seizure burden."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card application

Sample Stability

Sample Rejection Criteria:
  • Insufficient sample volume
  • Incorrect sample container or labeling
  • Sample hemolysis or contamination

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ALDH7A1 gene, which are associated with pyridoxine-dependent epilepsy.
📊

Pathogenic variant detected

Confirms diagnosis of PDE; pyridoxine therapy recommended.

📊

No pathogenic variant detected

PDE unlikely, but clinical correlation advised if symptoms persist.

📊

Variant of uncertain significance

Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If experiencing seizures, developmental delays, or abnormal movements in infancy or early childhood, especially with a family history of epilepsy.

Limitations

  • ⚠May not detect all possible genetic variants
  • ⚠Results require interpretation by a geneticist
  • ⚠False negatives are rare but possible

Risks & Considerations

  • ●Minor bruising or pain at blood draw site
  • ●Very low risk of infection from venipuncture

Interfering Factors

  • ●Hemolyzed or lipemic blood samples
  • ●Contaminated DNA samples
  • ●Incorrect sample storage conditions

Compare With Similar Tests

TestALDH7A1 Gene Pyridoxine-dependent epilepsy NGS Genetic TestWhole Exome SequencingEEGMetabolic PanelClinical Evaluation
ComparisonALDH7A1 Gene Pyridoxine-dependent epilepsy NGS Genetic TestBroad genetic analysis vs. targeted gene testFunctional brain activity assessment vs. genetic diagnosisMeasures metabolites vs. genetic mutationsSymptom-based vs. etiological diagnosis

Frequently Asked Questions

What is ALDH7A1 Gene Pyridoxine-dependent Epilepsy NGS Genetic Test?
This test uses Next-Generation Sequencing to detect mutations in the ALDH7A1 gene, which causes pyridoxine-dependent epilepsy, a rare genetic disorder.
Why is this test performed?
It is performed to diagnose pyridoxine-dependent epilepsy in individuals with seizures, especially those responsive to vitamin B6, to guide targeted treatment.
What are the symptoms of pyridoxine-dependent epilepsy?
Symptoms include seizures in infancy, developmental delay, intellectual disability, abnormal movements, and behavioral problems.
How is the test conducted?
A blood sample is collected and analyzed using NGS technology to identify mutations in the ALDH7A1 gene.
What sample is 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 from sample collection.
What is the cost of the test?
The test costs INR 20000 with free home sample collection available across India.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in many cities across India.
Is the test covered by insurance?
Some insurance plans may cover genetic testing, but it is advisable to check with your provider for specific coverage details.
What if the test is positive?
A positive result confirms pyridoxine-dependent epilepsy, and treatment with pyridoxine supplementation is initiated under medical supervision.
Can this test be done for prenatal diagnosis?
Prenatal testing may be possible if a familial mutation is known, but consultation with a genetic counselor is essential.
How accurate is the NGS test?
NGS is highly accurate for detecting genetic variants, but accuracy depends on sample quality and laboratory standards; genetic counseling is recommended for interpretation.
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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