GLRB Gene Hyperekplexia NGS Genetic Test
Short Name: GLRB Hyperekplexia NGS
Also known as: Startle disease GLRB gene test, Hereditary hyperekplexia genetic test
GLRB 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 Reports are generally delivered within 3 to 4 weeks from the date of sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
This test is intended to identify pathogenic variants in the GLRB gene, which encodes the glycine receptor beta subunit. Confirming the genetic etiology can help diagnose hyperekplexia, guide recurrence-risk counseling, and aid in management decisions.
- Test Code
- 4141
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generally delivered within 3 to 4 weeks from the date of sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. Please carry a valid doctor's prescription, clinical history summary, and family pedigree if available. A genetic counseling session is recommended before testing.
Method: Venipuncture / Dried blood spot on FTA card / Extracted DNA submission
Laboratory Analysis
A trained phlebotomist will collect blood in an EDTA tube. For FTA card samples, a few drops of blood are allowed to air-dry. Extracted DNA samples are accepted as per laboratory instructions.
Report Delivery
No special precautions are required. You may resume normal diet and activity immediately after sample collection.
Timeline: Reports are generally delivered within 3 to 4 weeks from the date of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
This test is intended to identify pathogenic variants in the GLRB gene, which encodes the glycine receptor beta subunit. Confirming the genetic etiology can help diagnose hyperekplexia, guide recurrence-risk counseling, and aid in management decisions.
How to Prepare
- Overnight fasting is not required.
- Inform your doctor about current medications before testing.
- Ensure the patient's clinical history and family pedigree are provided.
- For FTA card samples, let the blood spot air-dry before packing.
- Label the sample tube or card with the patient's name, date, and unique ID.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A diagnosis of hyperekplexia should be supported by clinical examination and genetic testing. In affected families, genetic counseling and recurrence-risk assessment are essential, and the GLRB test result helps guide parents regarding the inheritance pattern."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood samples
- Unlabeled or mislabeled samples
- Leaking tubes
- FTA cards that are damaged or not air-dried
- Missing clinical history or consent form
Understanding Your Results
Pathogenic
Consistent with GLRB-associated hyperekplexia when clinical signs are present.
Likely Pathogenic
Likely confirms diagnosis; family studies may be helpful.
Variant of Uncertain Significance
Additional testing or segregation analysis may be needed.
Benign/Likely Benign
Not considered causative for the condition.
No pathogenic variant detected
GLRB-associated hyperekplexia is less likely; consider testing other genes.
Consult a neurologist or clinical geneticist if the child has repeated startle-induced falls, neonatal stiffness, unexplained apnea, or if a GLRB pathogenic variant is detected. Couples with an affected child may also consult for recurrence-risk counseling.
Limitations
- ⚠This test targets only the GLRB gene and cannot detect mutations in other hyperekplexia-associated genes.
- ⚠NGS may not reliably detect certain large deletions, duplications, or structural rearrangements.
- ⚠Variant classification may require additional family segregation analysis.
- ⚠A negative result does not exclude non-genetic causes of startle symptoms.
Risks & Considerations
- ●Minor bruising at the venipuncture site
- ●Dizziness during blood draw
- ●Psychological or emotional impact of genetic test results
Interfering Factors
- ●Highly degraded DNA from delayed or improper transport
- ●Presence of PCR inhibitors in the sample
- ●Low DNA concentration
- ●Rare sequencing artifacts in regions of low NGS coverage
Compare With Similar Tests
| Test | GLRB Gene Hyperekplexia NGS Genetic Test | GLRB Gene Hyperekplexia NGS Genetic Test | Hereditary Neurological Disorders NGS Panel | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | GLRB Gene Hyperekplexia NGS Genetic Test |
Frequently Asked Questions
What is the GLRB Gene Hyperekplexia NGS Genetic Test?
How much does the GLRB gene hyperekplexia NGS test cost?
What sample is required for the test?
Is fasting required before the test?
How long will the reports take?
Is home sample collection available?
Will I receive raw data with my report?
What do the test results mean?
Does this test detect all types of hyperekplexia?
Do I need genetic counseling before testing?
Can this test be done for newborn babies and infants?
Which cities are covered for free home sample collection?
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