TSEN54 Gene Pontocerebellar hypoplasia type 4 NGS Genetic Test
Short Name: TSEN54 Gene PCH4 NGS
Also known as: TSEN54 Gene PCH4 Genetic Test, Pontocerebellar Hypoplasia Type 4 NGS Test, TSEN54 NGS Sequencing
TSEN54 Gene Pontocerebellar hypoplasia type 4 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 after the laboratory receives the sample.. 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 detect pathogenic mutations in the TSEN54 gene to confirm or exclude a diagnosis of Pontocerebellar Hypoplasia Type 4. It also provides information about the inheritance pattern and supports genetic counseling for affected families.
- Test Code
- 4473
- 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 after the laboratory receives the sample.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members is recommended before the test. Please carry any previous imaging or genetic test reports for correlation.
Method: Blood draw / FTA card spot
Laboratory Analysis
Blood is drawn by a trained phlebotomist. If using an FTA card, one drop of blood is applied to the card and allowed to dry at ambient temperature.
Report Delivery
No special precautions are required after sample collection. The sample should be transported to the laboratory as per instructions. You may return to your normal activities.
Timeline: Reports are generally delivered within 3 to 4 weeks after the laboratory receives the sample.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic mutations in the TSEN54 gene to confirm or exclude a diagnosis of Pontocerebellar Hypoplasia Type 4. It also provides information about the inheritance pattern and supports genetic counseling for affected families.
How to Prepare
- Blood sample should be collected in an EDTA tube
- Extracted DNA sample should be provided in a sterile DNA storage buffer
- FTA card should be clearly labelled with patient name and date of collection
- Sample must reach the laboratory within the specified time to ensure optimal DNA quality
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic confirmation of TSEN54-related PCH4 is essential for accurate recurrence-risk counselling and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Improperly labelled or unlabelled sample
- Insufficient quantity of blood or DNA
- Sample in wrong collection tube (e.g., heparin tube instead of EDTA)
- FTA card with insufficient or contaminated blood spot
Understanding Your Results
Positive
Negative
Variant of Uncertain Significance (VUS)
If your child has delayed developmental milestones, seizures, abnormal muscle tone, feeding difficulties, abnormal eye movements, or if there is a family history of pontocerebellar hypoplasia, consult a neurologist or clinical geneticist for evaluation and genetic testing.
Limitations
- ⚠NGS may not detect large deletions, duplications, or complex rearrangements involving TSEN54
- ⚠Deep intronic variants or epigenetic changes are not assessed in this test
- ⚠Variants of uncertain significance may require additional family member testing
- ⚠A negative result does not exclude all forms of pontocerebellar hypoplasia; other genes may be responsible
- ⚠Results should be interpreted only in the context of clinical and radiological findings by a clinical geneticist
Risks & Considerations
- ●Minimal risk of bruising, discomfort, or bleeding at the blood collection site
- ●No direct physical risks from the genetic testing process itself
- ●Potential psychological impact of discovering an inherited condition
Interfering Factors
- ●Degraded or contaminated DNA
- ●Insufficient DNA quantity
- ●Sample mix-up or mislabeling
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare genetic variants in non-coding regions not covered by NGS
Compare With Similar Tests
| Test | TSEN54 Gene Pontocerebellar hypoplasia type 4 NGS Genetic Test | TSEN54 Gene PCH4 NGS Genetic Test | Neurological Disorders NGS Panel | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | TSEN54 Gene Pontocerebellar hypoplasia type 4 NGS Genetic Test |
Frequently Asked Questions
What does the TSEN54 Gene PCH4 NGS Genetic Test cost in India?
Which conditions does this test diagnose?
What type of sample is required for this genetic test?
Do I need to fast before taking this test?
How long does it take to receive the test report?
Is home sample collection available for this test?
Will I receive raw data files along with the test report?
Does this test need genetic counseling?
What are the common symptoms of Pontocerebellar Hypoplasia Type 4?
How is PCH4 diagnosed?
Can this test be done on an FTA card sample?
Is this test covered by insurance?
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