VPS53 Gene Pontocerebellar hypoplasia type 2E NGS Genetic Test
Short Name: VPS53 Gene PCH Type 2E NGS Test
Also known as: VPS53 Gene Test, PCH2E Genetic Test, Pontocerebellar Hypoplasia Type 2E NGS Test, VPS53 NGS Sequencing
VPS53 Gene Pontocerebellar hypoplasia type 2E 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 delivered within 3 to 4 weeks after the sample reaches 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
To confirm a clinical suspicion of Pontocerebellar Hypoplasia Type 2E by detecting disease-causing variants in the VPS53 gene through next-generation sequencing.
- Test Code
- 4476
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is needed. Inform your healthcare provider about any anticoagulant therapy. A genetic counseling session is recommended to draw a pedigree chart and discuss the implications of the test.
Method: Blood draw or FTA card spot
Laboratory Analysis
A small blood sample is collected by a trained phlebotomist. If using an FTA card, a single drop of blood is spotted onto the card.
Report Delivery
No post-test precautions are required. The sample is transported to the laboratory for analysis and reported in 3 to 4 weeks.
Timeline: Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To confirm a clinical suspicion of Pontocerebellar Hypoplasia Type 2E by detecting disease-causing variants in the VPS53 gene through next-generation sequencing.
How to Prepare
- Please carry a valid government-issued ID
- For children, parental consent is required
- No fasting is required
- Specimen should be labeled with the patient's full name and date of birth
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic confirmation is essential for accurate prognosis, management planning, and reproductive counseling for families affected by Pontocerebellar Hypoplasia Type 2E."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
Understanding Your Results
Pathogenic or likely pathogenic variant detected
Diagnosis of VPS53-related Pontocerebellar Hypoplasia Type 2E is confirmed. Genetic counseling, surveillance, and family cascade testing are recommended.
No pathogenic variant detected
PCH Type 2E due to VPS53 mutations is unlikely. Additional genetic testing for other PCH genes or a broader neurodevelopmental panel may be considered.
Variant of uncertain significance (VUS)
The clinical significance is currently unknown. Additional segregation analysis and functional studies may help clarify the role of this variant.
If you or your child experience unexplained developmental delays, seizures, hypotonia, breathing or swallowing difficulties, or coordination problems, consult a neurologist or clinical geneticist promptly.
Limitations
- ⚠NGS may not detect large deletions, insertions, or repeat expansions
- ⚠Clinical correlation is essential
- ⚠Variants classified as uncertain significance may require further family studies
Risks & Considerations
- ●Slight pain or bruising at the needle site
- ●Fainting (rare)
- ●Infection (very rare)
Interfering Factors
- ●Poor quality or degraded DNA
- ●Maternal cell contamination
- ●Variants of uncertain significance
- ●Incomplete gene coverage due to GC-rich regions
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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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