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GLRA1 Gene Hyperekplexia NGS Genetic Test

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GLRA1 Gene Hyperekplexia NGS Genetic Test

Short Name: GLRA1 Hyperekplexia NGS

Also known as: Hyperekplexia Genetic Test, Startle Disease GLRA1 Mutation Test, GLRA1 Glycine Receptor Gene Test

GLRA1 Gene Hyperekplexia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in The laboratory typically sends the report within 3 to 4 weeks after sample receipt. You will receive an SMS or email when the report is ready.. Free home collection in 300+ cities across India.

NGS Single Gene 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 confirm the clinical diagnosis of hyperekplexia by detecting pathogenic variants in the GLRA1 gene, thereby enabling targeted management, recurrence-risk assessment, and genetic counselling for the family.

Test Code
4142
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The laboratory typically sends the report within 3 to 4 weeks after sample receipt. You will receive an SMS or email when the report is ready.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counselling session and a detailed family history with pedigree chart are recommended before the test.

Method: Venipuncture or FTA card blood spot or submission of extracted DNA

Step 2

Laboratory Analysis

For a blood sample, a small blood sample is drawn from a vein. For an FTA card, a few drops of blood are placed on the card. Extracted DNA can be submitted if already available.

Step 3

Report Delivery

There are no activity restrictions after sample collection. The patient may resume normal diet and daily routine immediately.

Timeline: The laboratory typically sends the report within 3 to 4 weeks after sample receipt. You will receive an SMS or email when the report is ready.

Patient Instructions

1
Before the Test:No special preparation is needed. Fasting is not required, but genetic counselling and clinical history are recommended before testing.
2
During the Test:The sample collection process is quick and usually completed within 5 to 10 minutes.
3
After the Test:No restrictions are required. You can resume normal routine immediately after sample collection.

About This Test

Who Should Get This Test

To confirm the clinical diagnosis of hyperekplexia by detecting pathogenic variants in the GLRA1 gene, thereby enabling targeted management, recurrence-risk assessment, and genetic counselling for the family.

How to Prepare

  • Book online to get free home sample collection.
  • No fasting is required before sample collection.
  • Provide clinical history and family pedigree information at the time of booking.
  • Ensure the sample tube or FTA card is correctly labelled with the patient's name and date of collection.

Doctor's Notes

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

"For a child with neonatal hypertonia, an exaggerated startle reflex, or feeding difficulty, early genetic testing can shorten a complex diagnostic journey and help parents understand recurrence risk during future pregnancies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeNot specified
ContainerEDTA tube / FTA card / DNA storage tube
Collection MethodVenipuncture or FTA card blood spot or submission of extracted DNA

Sample Stability

Blood samples should reach the laboratory within 24 hours of collection.
FTA card samples can be transported at room temperature.
Extracted DNA should be stored at -20 degree Celsius or below until analysis.
Sample Rejection Criteria:
  • Clotted or hemolysed blood samples
  • Inadequate sample quantity
  • Unlabelled or mismatched sample details
  • Sample received after prolonged transport time without proper storage

Understanding Your Results

The report should be read by a neurologist, clinical geneticist, or referring physician who can integrate the genetic result with clinical presentation and family history.
📊

Negative

No pathogenic variant detected in the GLRA1 gene. Hyperekplexia due to variants in other genes or non-genetic causes is still possible.

📊

Positive

A pathogenic or likely pathogenic variant was identified in the GLRA1 gene, supporting the diagnosis of hyperekplexia.

📊

Variant of Uncertain Significance (VUS)

A rare genetic variant was found, but its clinical significance is not yet established. Additional family testing or functional studies may be needed.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you or your child has symptoms such as exaggerated startle response, muscle stiffness, unexplained falls, feeding problems in infancy, or a known family history of hyperekplexia. Also consult if the genetic test result is positive or uncertain.

Limitations

  • ⚠This single-gene test analyses GLRA1 only and will not detect mutations in other hyperekplexia-related genes.
  • ⚠NGS may not reliably detect large structural rearrangements, large deletions or duplications, or deep intronic variants.
  • ⚠A negative result does not completely exclude a diagnosis of hyperekplexia.
  • ⚠A variant of uncertain significance may require additional family studies before clinical interpretation.

Risks & Considerations

  • ●Minimal bruising or discomfort at the blood collection site.
  • ●Very low risk of infection when standard aseptic technique is used.

Interfering Factors

  • ●Poor sample quality or insufficient DNA
  • ●Sample contamination or mix-up
  • ●Improper transport or storage conditions
  • ●Rare technical limitations of NGS in certain genomic regions

Compare With Similar Tests

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Frequently Asked Questions

What is the price of the GLRA1 gene hyperekplexia NGS genetic test?
The test costs Rs 20000 at DNA Labs India. The price includes NGS-based GLRA1 gene analysis and a clinical report. Free home sample collection is available for online bookings in many cities.
What is hyperekplexia?
Hyperekplexia, also known as startle disease, is a rare neurological disorder marked by an exaggerated startle response to sudden stimuli. Mutations in the GLRA1 gene account for approximately 80% of cases.
Why is the GLRA1 gene tested?
The GLRA1 gene encodes the alpha-1 subunit of the glycine receptor, which helps regulate nerve signalling. Testing confirms whether a mutation in this gene is responsible for hyperekplexia.
Which sample types are accepted?
Accepted sample types include blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required for this test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Reports are generally available in 3 to 4 weeks from the time the sample is received by the laboratory.
What technology is used for the test?
Next Generation Sequencing (NGS) is used to analyse the DNA sequence of the GLRA1 gene.
What does a positive result mean?
A positive result means a pathogenic or likely pathogenic variant was found in the GLRA1 gene, confirming the genetic cause of hyperekplexia in the tested individual.
What does a negative result mean?
A negative result means no pathogenic variant was detected in the GLRA1 gene. It does not completely exclude hyperekplexia because mutations in other genes may be involved.
Will I receive raw sequencing data?
Yes, DNA Labs India provides raw data, FASTQ and VCF files along with the clinical report for this test.
In which cities is home sample collection available?
Free home sample collection is available in major Indian cities including Mumbai, Delhi, Bengaluru, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, and many others.
Who should consider this test?
Individuals with exaggerated startle reflex, stiffness, unexplained falls, feeding difficulties in infancy, or a family history of hyperekplexia should discuss this test with a neurologist or clinical geneticist.
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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