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L2HGDH Gene L-2-hydroxyglutaric aciduria NGS Genetic Test

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L2HGDH Gene L-2-hydroxyglutaric aciduria NGS Genetic Test

Short Name: L2HGDH Gene NGS Test

Also known as: L-2-Hydroxyglutaric Aciduria Genetic Test, L2HGDH Mutation Analysis

L2HGDH Gene L-2-hydroxyglutaric aciduria NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood, Extracted DNA, FTA Card samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To identify pathogenic mutations in the L2HGDH gene for accurate diagnosis of L-2-hydroxyglutaric aciduria, facilitating clinical management, genetic counseling, and family planning.

Test Code
4719
Price
₹20,000
Sample Type
Blood, Extracted DNA, FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Provide clinical history of patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with L-2-hydroxyglutaric aciduria.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collection via venipuncture or use of FTA card for one drop of blood.

Step 3

Report Delivery

Sample is sent to the laboratory for NGS analysis and report generation.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session and review of clinical history and family pedigree.
2
During the Test:Sample collection (blood or FTA card) and submission to laboratory.
3
After the Test:Report generation in 3-4 weeks, followed by consultation with healthcare provider.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the L2HGDH gene for accurate diagnosis of L-2-hydroxyglutaric aciduria, facilitating clinical management, genetic counseling, and family planning.

How to Prepare

  • No fasting required
  • Bring valid ID and doctor's prescription
  • Inform about any medications or health conditions
  • Ensure proper sample labeling

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic testing is crucial for accurate diagnosis and family counseling in L-2-hydroxyglutaric aciduria, aiding in management and reproductive planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, FTA Card
Sample VolumeAs per requirement
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood: Store at 2-8°C for up to 48 hours
FTA card: Store at room temperature
Extracted DNA: Store at -20°C for long-term
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect sample type or container

Understanding Your Results

Test results indicate the presence or absence of pathogenic variants in the L2HGDH gene, which are associated with L-2-hydroxyglutaric aciduria.
📊

Positive

Pathogenic variant detected in L2HGDH gene, confirming diagnosis of L-2-hydroxyglutaric aciduria.

Action: Consult a geneticist for management and family counseling.

📊

Negative

No pathogenic variants detected in L2HGDH gene.

Action: Consider other diagnostic tests if symptoms persist; genetic counseling recommended.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found but its clinical significance is unknown.

Action: Further testing and family studies may be needed; consult a geneticist.

⚠️ When to Consult a Doctor:

If you or a family member exhibits symptoms of L-2-hydroxyglutaric aciduria, such as delayed development, seizures, or intellectual disability, or for family planning purposes.

Limitations

  • ⚠Cannot detect all possible mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Psychological impact of genetic results
  • ●Potential for uncertain findings

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample storage

Compare With Similar Tests

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ComparisonL2HGDH Gene L-2-hydroxyglutaric aciduria NGS Genetic Test

Frequently Asked Questions

What is L-2-hydroxyglutaric aciduria?
L-2-hydroxyglutaric aciduria is a rare genetic metabolic disorder caused by mutations in the L2HGDH gene, leading to accumulation of L-2-hydroxyglutaric acid and affecting the central nervous system.
What causes L-2-hydroxyglutaric aciduria?
It is caused by mutations in the L2HGDH gene, which encodes an enzyme responsible for breaking down L-2-hydroxyglutaric acid. Mutations lead to enzyme dysfunction and acid accumulation.
What are the symptoms of L-2-hydroxyglutaric aciduria?
Symptoms include delayed development, seizures, muscle weakness, intellectual disability, movement disorders, speech difficulties, behavioral problems, and vision or hearing issues.
How is L-2-hydroxyglutaric aciduria diagnosed?
Diagnosis is typically through genetic testing to identify mutations in the L2HGDH gene, often confirmed with MRI and MRS to assess brain damage.
What is the L2HGDH Gene NGS Genetic Test?
It is a next-generation sequencing (NGS) genetic test that analyzes the L2HGDH gene to detect mutations causing L-2-hydroxyglutaric aciduria for accurate diagnosis.
How much does the L2HGDH Gene Test cost?
The test costs INR 20,000 in India, which includes home sample collection and genetic counseling.
Is home sample collection available for this test?
Yes, free home sample collection is available for online bookings across numerous cities in India.
How long does it take to get test results?
Reports are typically delivered within 3 to 4 weeks after sample collection.
What do the test results mean?
Results indicate if pathogenic variants are detected in the L2HGDH gene. Positive confirms diagnosis, negative suggests no variants, and VUS requires further evaluation.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to discuss the test, draw a family pedigree, and understand implications of results.
Can this test be used for prenatal diagnosis?
It can be used for carrier testing or prenatal diagnosis if there is a family history, but consultation with a geneticist is essential.
What are the risks of the genetic test?
Risks are minimal, such as bruising from blood draw, but there may be psychological impacts from results. Genetic counseling helps mitigate concerns.
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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