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HADH Gene 3-hydroxyacyl-CoA dehydrogenase deficiency NGS Genetic Test

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HADH Gene 3-hydroxyacyl-CoA dehydrogenase deficiency NGS Genetic Test

Short Name: HADH Gene Deficiency NGS Test

Also known as: HADH Deficiency, 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, HADH Gene Disorder

HADH Gene 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.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the HADH Gene NGS Genetic Test is to diagnose 3-hydroxyacyl-CoA dehydrogenase deficiency by detecting mutations in the HADH gene, enabling accurate diagnosis, personalized treatment planning, and genetic counseling for affected individuals and their families.

Test Code
4621
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

Genetic counseling session recommended to discuss test implications and draw a pedigree chart of family members.

Method: Venipuncture or blood drop

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or blood drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

Sample labeled and transported to the lab under ambient room temperature conditions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to understand test purpose, implications, and obtain informed consent. Provide clinical history and family pedigree.
2
During the Test:Blood sample collection via venipuncture or FTA card. No special procedures required during testing.
3
After the Test:Results available in 3-4 weeks. Genetic counseling recommended to discuss findings and next steps.

About This Test

Who Should Get This Test

The purpose of the HADH Gene NGS Genetic Test is to diagnose 3-hydroxyacyl-CoA dehydrogenase deficiency by detecting mutations in the HADH gene, enabling accurate diagnosis, personalized treatment planning, and genetic counseling for affected individuals and their families.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples accurately
  • Transport at room temperature

Doctor's Notes

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

"Genetic testing for HADH deficiency is crucial for early diagnosis and management of metabolic disorders, especially in families with a history of similar conditions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop

Sample Stability

Blood: 24 hours at room temperature
Extracted DNA: Stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the HADH gene. Positive results confirm HADH deficiency, while negative results may require further clinical evaluation.
Pathogenic variant detected: Confirms diagnosis of HADH deficiency
Likely pathogenic variant: Strong indication of disease, may require confirmatory testing
Variant of uncertain significance (VUS): Clinical correlation needed
No pathogenic variant: Reduces likelihood but does not rule out other conditions
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as hypoglycemia, muscle weakness, or seizures persist, worsen, or if there is a family history of metabolic disorders.

Limitations

  • May not detect all genetic variants or deep intronic mutations
  • Requires interpretation by a genetic specialist
  • Results should be correlated with clinical findings

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection
  • Psychological impact of genetic results

Interfering Factors

  • Contaminated or degraded DNA sample
  • Improper sample storage or handling
  • Recent blood transfusion

Frequently Asked Questions

What is HADH Gene Deficiency?
HADH Gene Deficiency is a rare genetic disorder caused by mutations in the HADH gene, leading to impaired fat metabolism and energy production.
What are the symptoms of HADH deficiency?
Symptoms include low blood sugar, high blood fats, muscle weakness, seizures, developmental delays, and heart problems, often triggered by fasting or stress.
How is HADH deficiency diagnosed?
Diagnosis is confirmed through genetic testing, such as NGS, to detect mutations in the HADH gene, along with clinical evaluation.
What is the cost of the NGS Genetic Test in India?
The cost is INR 20,000 at DNA Labs India, including sample collection, analysis, and reporting.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get the results?
Results are typically available in 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across many cities in India.
What does the test report include?
The report includes mutation analysis, variant classification, and clinical interpretation, along with raw data files like FASTQ and VCF.
Can the test detect all mutations?
While NGS is comprehensive, it may not detect all variants, such as deep intronic mutations. Genetic counseling is advised.
Is genetic counseling provided?
Yes, genetic counseling sessions are recommended before and after testing to discuss implications and management.
How can I book the test?
You can book online through DNA Labs India's website or contact them via phone or WhatsApp for assistance.
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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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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