TSEN34 Gene Pontocerebellar hypoplasia type 2C NGS Genetic Test
Short Name: TSEN34 PCH2C NGS Test
Also known as: PCH2C Genetic Test, TSEN34 Gene Sequencing, Pontocerebellar Hypoplasia Type 2C NGS Test
TSEN34 Gene Pontocerebellar hypoplasia type 2C NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Confirmation on Blood / Extracted DNA / FTA Card samples. Results in Reports will be available within 3-4 weeks from sample receipt. Emergency or expedited service may be available on request.. 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 identify pathogenic mutations in the TSEN34 gene in individuals with clinical suspicion of Pontocerebellar Hypoplasia Type 2C, to confirm diagnosis, facilitate genetic counseling and assist in prenatal decision-making.
- Test Code
- 4471
- ICD Code
- Q04.8
- Price
- ₹20,000
- Sample Type
- Blood / Extracted DNA / FTA Card
- Result Time
- Reports will be available within 3-4 weeks from sample receipt. Emergency or expedited service may be available on request.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Confirmation
Sample Collection
No special preparation is required. Please carry any prior genetic reports, imaging or clinical notes. Notify the lab if the patient has received a bone marrow transplant or a recent blood transfusion within the last 7 days as this may affect accuracy.
Method: Venipuncture or Dried Blood Spot
Laboratory Analysis
A phlebotomist will draw 2-3 ml of blood in an EDTA vacutainer. For infants, the sample may be obtained as a heel prick spotted on an FTA card.
Report Delivery
You may resume normal activities immediately. No side effects are expected.
Timeline: Reports will be available within 3-4 weeks from sample receipt. Emergency or expedited service may be available on request.
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the TSEN34 gene in individuals with clinical suspicion of Pontocerebellar Hypoplasia Type 2C, to confirm diagnosis, facilitate genetic counseling and assist in prenatal decision-making.
How to Prepare
- Please provide the patient's name, date of birth and clinical history
- Samples must be labeled correctly
- EDTA blood can be stored at 2-8°C if shipment is within 72 hours
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test should only be ordered when clinical features suggest PCH2C. Genetic counseling before testing is essential to ensure informed consent and to discuss implications for family members."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Improperly labeled samples
- Insufficient amount of DNA
Understanding Your Results
Pathogenic variant detected
Positive for PCH2C. Confirms the clinical diagnosis. Recurrence risk for siblings is 25%. Prenatal testing is possible.
No pathogenic variant detected
Negative result. PCH2C is less likely but not excluded if clinical suspicion remains high due to possible mutations in other genes or intronic regions not covered.
Variant of Uncertain Significance (VUS)
A change in TSEN34 of uncertain clinical significance was found. Additional testing of family members may be needed to determine pathogenicity.
If you received a positive or VUS result, please make an appointment with a clinical geneticist to review the implications and discuss management options.
Risks & Considerations
- ●Minor bruising at the phlebotomy site
- ●Psychological stress from unexpected results
Interfering Factors
- ●Severe hemolysis in blood sample
- ●Contamination during sample collection
- ●DNA degradation due to improper storage or transit
Frequently Asked Questions
What is the TSEN34 gene?
What does this NGS genetic test do?
What sample is needed?
Is fasting required?
How much does it cost?
How long will the report take?
Is home sample collection available?
Do I need a doctor's prescription?
What does a positive result mean?
Can this test be used for prenatal diagnosis?
Will my health insurance cover it?
Does DNA Labs India share raw data?
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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.
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✓ 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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