SLC6A5 Gene Hyperekplexia NGS Genetic Test
Short Name: SLC6A5 Hyperekplexia NGS
Also known as: Hyperekplexia Genetic Test, SLC6A5 Gene Mutation Analysis, Glycine Transporter 2 Gene Test, Startle Disease Genetic Test
SLC6A5 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 typically available in 3 to 4 weeks after the sample is received.. 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
The SLC6A5 gene NGS test is performed to identify disease-causing mutations in individuals with clinical features of hyperekplexia, including excessive startle responses, muscle rigidity, and unexplained neonatal apnea. It also serves as a confirmatory test for patients with a family history of startle disease and supports genetic counseling and early intervention.
- Test Code
- 4138
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available in 3 to 4 weeks after the sample is received.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation such as fasting is required. The patient or parent/guardian should provide a clinical history and any prior diagnostic reports. A genetic counseling session is recommended to draw a pedigree chart.
Method: Peripheral blood draw / FTA card spot
Laboratory Analysis
Blood is drawn from a vein in the arm or a few drops are collected on the FTA card. The procedure is quick and safe.
Report Delivery
No special precautions are necessary. Resume normal diet and activities.
Timeline: Reports are typically available in 3 to 4 weeks after the sample is received.
Patient Instructions
About This Test
Who Should Get This Test
The SLC6A5 gene NGS test is performed to identify disease-causing mutations in individuals with clinical features of hyperekplexia, including excessive startle responses, muscle rigidity, and unexplained neonatal apnea. It also serves as a confirmatory test for patients with a family history of startle disease and supports genetic counseling and early intervention.
How to Prepare
- Blood sample should be collected in an EDTA tube
- Alternatively, spot one drop of blood on the FTA card and allow to air dry
- Label the sample with patient's full name, date of birth, and collection date
- Transport the sample to the laboratory at ambient temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for hyperekplexia not only confirms the clinical suspicion but also enables informed reproductive and prenatal counseling for affected families. An accurate molecular diagnosis is the cornerstone of personalized management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Incorrectly labeled sample
- Sample received in heparin tube instead of EDTA
- Insufficient sample volume
Understanding Your Results
If the test result is positive for a pathogenic variant, consult a neurologist and a medical geneticist for management and family counseling. If symptoms persist with a negative result, further evaluation may be necessary.
Limitations
- ⚠This test analyzes the coding exons and flanking intronic regions of the SLC6A5 gene; deep intronic or regulatory variants may not be detected.
- ⚠Large genomic rearrangements may not be identified by this NGS method.
- ⚠A negative result does not entirely rule out hyperekplexia due to mutations in other genes.
Risks & Considerations
- ●Minimal risk of bruising at blood draw site
- ●Rare risk of infection or excessive bleeding
Interfering Factors
- ●Sample contamination or degradation
- ●Low DNA quality or quantity
- ●Presence of maternal cell contamination in cord blood
- ●Heterozygous deletions or duplications that may be missed by standard NGS analysis
Compare With Similar Tests
| Test | SLC6A5 Gene Hyperekplexia NGS Genetic Test | ||||
|---|---|---|---|---|---|
| Comparison | SLC6A5 Gene Hyperekplexia NGS Genetic Test |
Frequently Asked Questions
What is the SLC6A5 Gene Hyperekplexia NGS Genetic Test?
Why is this test done?
What does NGS stand for?
What sample is required?
Do I need to fast for this test?
How long does it take to get results?
What is the cost of the test?
Is home sample collection available?
Will I receive raw data files?
Who should undergo this test?
What does a positive test result mean?
Is the test covered by insurance?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference 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.
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.