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HADHA Gene Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency NGS Genetic Test

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HADHA Gene Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency NGS Genetic Test

HADHA Gene Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 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.

Next-Generation Sequencing (NGS)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify mutations in the HADHA gene associated with Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency for diagnosis, treatment guidance, and genetic counseling.

Test Code
2127
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

Pre-test information includes obtaining the patient's clinical history and conducting a genetic counseling session to draw a pedigree chart of family members affected with Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Method: Blood draw or saliva collection

Step 2

Laboratory Analysis

Sample collection involves a simple blood draw or saliva swab, performed by a trained phlebotomist at home or a collection center.

Step 3

Report Delivery

The sample is labeled, stored at ambient room temperature, and transported to the laboratory for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are recommended prior to testing.
2
During the Test:The test is non-invasive, involving collection of a blood or saliva sample.
3
After the Test:Results are available in 3-4 weeks, with genetic counseling provided to discuss findings and next steps.

About This Test

Who Should Get This Test

To identify mutations in the HADHA gene associated with Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency for diagnosis, treatment guidance, and genetic counseling.

How to Prepare

  • No fasting required
  • Ensure proper identification of the sample
  • Follow standard phlebotomy or saliva collection protocols

Doctor's Notes

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

"Early genetic testing for LCHAD deficiency is crucial for timely intervention, preventing metabolic crises, and guiding family planning through 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 draw or saliva collection

Understanding Your Results

Results from the HADHA Gene LCHAD Deficiency NGS Genetic Test provide information on the presence of mutations in the HADHA gene. Positive results confirm a diagnosis of LCHAD deficiency or carrier status, while negative results may not rule out the condition entirely due to test limitations.
Pathogenic or likely pathogenic variants indicate LCHAD deficiency or carrier status
Benign or likely benign variants suggest no significant genetic alteration associated with LCHAD deficiency
Variants of uncertain significance require further clinical correlation and possibly additional testing
Results should be reviewed by a geneticist or healthcare provider for comprehensive interpretation
⚠️ When to Consult a Doctor:

Consult a doctor if you or a family member experience symptoms such as recurrent low blood sugar, muscle weakness, liver issues, or vision problems, especially with a family history of metabolic disorders. Genetic counseling is recommended for all individuals undergoing this test.

Limitations

  • ⚠The test may not detect all possible mutations in the HADHA gene, including deep intronic or regulatory region variants
  • ⚠Results should be interpreted in conjunction with clinical findings and family history
  • ⚠Genetic testing cannot predict disease severity or exact phenotypic expression

Risks & Considerations

  • ●Minimal physical risks from blood draw, such as bruising or discomfort
  • ●Potential psychological impact from test results, emphasizing the need for genetic counseling

Frequently Asked Questions

What is LCHAD deficiency?
LCHAD deficiency is a rare genetic disorder where the body cannot break down long-chain fats for energy due to mutations in the HADHA gene, leading to symptoms like low blood sugar, muscle weakness, and liver problems.
What is the HADHA gene?
The HADHA gene provides instructions for making an enzyme involved in fatty acid oxidation, essential for energy production. Mutations in this gene cause LCHAD deficiency.
How is the NGS genetic test performed?
The test uses next-generation sequencing to analyze the HADHA gene from a blood or saliva sample, identifying mutations associated with LCHAD deficiency.
What is the cost of this test in India?
The cost of the HADHA Gene LCHAD Deficiency NGS Genetic Test in India is INR 20,000, with free home sample collection available in many cities.
Is the test painful?
The test involves a simple blood draw or saliva collection, which is generally painless with minimal discomfort.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the symptoms of LCHAD deficiency?
Common symptoms include low blood sugar, muscle weakness, liver problems, vision loss, cardiomyopathy, and respiratory distress.
Can LCHAD deficiency be treated?
While there is no cure, treatment options include dietary changes, vitamin supplements, and medications to manage symptoms and prevent metabolic crises.
Is the test covered by insurance?
Coverage depends on the insurance provider and policy; it is not typically covered under government schemes like PMJAY without specific authorization.
What is NGS technology?
Next-generation sequencing (NGS) is a high-throughput method that allows for rapid and accurate analysis of multiple genes, used here to detect HADHA gene mutations.
Who should get tested for LCHAD deficiency?
Individuals with a family history of LCHAD deficiency, symptoms suggestive of the disorder, or those undergoing genetic counseling for metabolic conditions should consider testing.
How accurate is the test?
The NGS genetic test is highly accurate for detecting known mutations in the HADHA gene, but it may not identify all possible variants, so clinical correlation is essential.
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

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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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