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ALDH5A1 Gene Succinic semialdehyde dehydrogenase deficiency NGS Genetic Test

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ALDH5A1 Gene Succinic semialdehyde dehydrogenase deficiency NGS Genetic Test

Short Name: ALDH5A1 Gene NGS Test

Also known as: SSADH deficiency, 4-hydroxybutyric aciduria

ALDH5A1 Gene Succinic semialdehyde dehydrogenase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger confirmation on Blood samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.

NGS 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

The purpose of this NGS genetic test is to diagnose succinic semialdehyde dehydrogenase deficiency by detecting mutations in the ALDH5A1 gene. It aids in confirming clinical suspicion, understanding genetic basis, informing treatment decisions, and providing carrier testing for family members.

Test Code
2244
ICD Code
E72.8
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next Generation Sequencing (NGS), Sanger confirmation
Step 1

Sample Collection

No specific preparation required. Inform the lab about any medications or recent transfusions.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the site to stop bleeding. Resume normal activities.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:No fasting required. Provide clinical history and family pedigree if available.
2
During the Test:Blood sample collection takes about 5-10 minutes.
3
After the Test:Minimal risks; apply bandage to puncture site. Reports available online in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to diagnose succinic semialdehyde dehydrogenase deficiency by detecting mutations in the ALDH5A1 gene. It aids in confirming clinical suspicion, understanding genetic basis, informing treatment decisions, and providing carrier testing for family members.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile techniques
  • Label sample correctly with patient details
  • Transport sample at ambient temperature

Doctor's Notes

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

"This test is crucial for early diagnosis and management of SSADH deficiency, especially in families with a history of metabolic disorders, to guide appropriate genetic counseling and treatment."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for 48 hours
For longer storage, refrigerate at 2-8°C
Sample Rejection Criteria:
  • Sample hemolyzed or clotted
  • Incorrect labeling or insufficient volume
  • Sample older than stability period

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ALDH5A1 gene. Positive results confirm SSADH deficiency, while negative results suggest no detected mutations, but clinical correlation is essential.
📊

Pathogenic variant detected

Confirms diagnosis of SSADH deficiency; genetic counseling and treatment planning recommended

📊

No pathogenic variant detected

SSADH deficiency unlikely based on this gene; consider other causes or additional testing

📊

Variant of uncertain significance

Further testing and family studies may be needed for clarification

⚠️ When to Consult a Doctor:

Consult a geneticist or metabolic specialist immediately if test results are positive or if symptoms persist despite negative results. Early intervention can improve outcomes.

Limitations

  • ⚠May not detect all genetic variants due to technical limitations
  • ⚠Requires clinical correlation and genetic counseling
  • ⚠Does not rule out other genetic disorders with similar symptoms

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Emotional impact of genetic results; counseling provided

Interfering Factors

  • ●Hemolyzed or lipemic blood samples
  • ●Recent blood transfusions (within 4 weeks)
  • ●Contaminated samples

Frequently Asked Questions

What is ALDH5A1 gene succinic semialdehyde dehydrogenase deficiency?
It is a rare genetic disorder where mutations in the ALDH5A1 gene impair the enzyme needed to break down GABA, leading to buildup of toxic metabolites and symptoms like seizures and developmental delay.
What are the common symptoms of this condition?
Symptoms include delayed development, seizures, intellectual disability, behavioral problems, hyperactivity, ataxia, and hypotonia, varying in severity.
How is the NGS genetic test performed?
The test uses Next Generation Sequencing to analyze the ALDH5A1 gene from a blood sample, identifying mutations that cause SSADH deficiency.
What is the cost of the test?
The cost is INR 20000, which includes genetic counseling, sample collection, and report interpretation.
Is home sample collection available?
Yes, free home collection is offered in major cities across India for online bookings.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result confirms a diagnosis of SSADH deficiency, indicating the presence of pathogenic ALDH5A1 gene mutations. Consult a geneticist for management.
Can this test be used for prenatal diagnosis?
Yes, if there is a known familial mutation, prenatal testing may be possible; consult with a genetic counselor for options.
What treatment options are available after diagnosis?
Treatment focuses on symptom management, such as anti-seizure medications, dietary adjustments, and supportive therapies. There is no cure, but early intervention can help.
Is genetic counseling included in the test cost?
Yes, genetic counseling and result interpretation by experts are included in the INR 20000 fee.
What sample is required for the test?
A blood sample of approximately 5-10 ml is needed, collected via venipuncture.
Are there any risks associated with the genetic test?
The test involves minimal risks from blood draw, such as bruising. Genetic results may have emotional implications, so counseling is provided.
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.
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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