SPTBN5 Gene Neuronal migration disorder NGS Genetic Test
Short Name: SPTBN5 NGS Test
Also known as: SPTBN5 Gene Sequencing, Neuronal Migration Disorder Genetic Test, SPTBN5 NGS Genetic Test
SPTBN5 Gene Neuronal migration disorder 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 delivered within 3 to 4 weeks from receipt of sample at the laboratory.. 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 purpose of this test is to identify pathogenic variants in the SPTBN5 gene associated with neuronal migration disorders. The test uses NGS technology to analyze the gene in a patient's DNA sample, aiding in diagnosis, prognosis, and recurrence risk assessment.
- Test Code
- 4409
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks from receipt of sample at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. Fasting is not needed. Provide full clinical history of the patient. A genetic counselling session is required to draw a pedigree chart of family members affected with SPTBN5 gene neuronal migration disorder.
Method: Venipuncture / FTA Card spot
Laboratory Analysis
Sample collection involves venipuncture (blood) or a simple blood spot on an FTA card. There are no specific during-collection precautions.
Report Delivery
No specific after-collection restrictions. Patient can resume normal activities.
Timeline: Reports are typically delivered within 3 to 4 weeks from receipt of sample at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the SPTBN5 gene associated with neuronal migration disorders. The test uses NGS technology to analyze the gene in a patient's DNA sample, aiding in diagnosis, prognosis, and recurrence risk assessment.
How to Prepare
- Specimen must be labeled with patient's full name and date of birth
- Fill the requisition form completely with clinical history and physician details
- Blood sample should be collected in an EDTA tube
- FTA card should be air-dried after applying the blood spot
- Ship the sample at ambient temperature to the laboratory
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic confirmation allows better family counseling and management planning for neuronal migration disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
- Improperly labeled sample
- Clotted blood sample
- Insufficient quantity of sample
- Leaked or broken specimen container
Understanding Your Results
Positive for a pathogenic variant in SPTBN5
Consistent with a diagnosis of neuronal migration disorder. Genetic counselling and family screening are recommended.
Variant of uncertain significance (VUS)
Further segregation analysis, functional studies, or additional genetic testing may be needed to clarify the significance.
No pathogenic variants detected
This does not exclude the diagnosis, as other genes or variants not detectable by NGS may be involved.
If you or your child have persistent seizures, developmental delays, or muscle tone abnormalities, consult a neurologist or clinical geneticist for evaluation and genetic counselling.
Limitations
- ⚠NGS may not detect large deletions, duplications, or structural rearrangements
- ⚠Variant interpretation may require additional confirmatory testing
- ⚠Phenotype may be influenced by modifier genes or other genetic factors
Risks & Considerations
- ●Minimal risk of bleeding, bruising, or infection at the needle puncture site for blood collection. FTA card spot involves no needle and is essentially risk-free.
Interfering Factors
- ●Low DNA quality
- ●Sample contamination
- ●PCR amplification errors
- ●Hematological malignancy may affect DNA yield
Frequently Asked Questions
What is the cost of the SPTBN5 gene neuronal migration disorder NGS test?
What is SPTBN5 gene?
What is a neuronal migration disorder?
How is the test performed?
Do I need to fast before the test?
Which sample types are accepted?
What is the turnaround time for results?
Who should undergo this test?
Will the test detect all genetic causes of neuronal migration disorders?
Is a genetic counselling session available?
Can this test be done during pregnancy?
Is the test covered by insurance?
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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.
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