TSEN54 Gene Pontocerebellar hypoplasia type 5 NGS Genetic Test
Short Name: TSEN54 PCH5 NGS Genetic Test
Also known as: TSEN54 Gene Mutation Test, Pontocerebellar Hypoplasia Type 5 Genetic Test, TSEN54 NGS Genetic Test, PCH5 Gene Sequencing
TSEN54 Gene Pontocerebellar hypoplasia type 5 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
The purpose of this NGS genetic test is to detect pathogenic variants in the TSEN54 gene, confirm a clinical diagnosis of pontocerebellar hypoplasia type 5, support prognostic counselling, guide family planning, and identify carriers among at-risk family members.
- Test Code
- 4480
- 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 specific physical preparation is required. No fasting is needed. A referral or clinical history from a neurologist or clinical geneticist is preferred. A pre-test genetic counseling session is recommended to draw a three-generation pedigree, discuss the benefits, limitations, and risks of the test, and obtain informed consent.
Method: Peripheral venous blood collection or FTA card blood spot
Laboratory Analysis
For a blood sample, a small volume of peripheral venous blood is collected into an EDTA tube. For an FTA card, a single drop of blood is applied to the marked circles and allowed to air-dry. The sample is labeled and sent to the laboratory for NGS analysis.
Report Delivery
No special restrictions are required after sample collection. You may resume normal daily activities immediately. The sample is transported safely to the laboratory, and the final report is shared in 3 to 4 weeks through the preferred communication channel.
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
The purpose of this NGS genetic test is to detect pathogenic variants in the TSEN54 gene, confirm a clinical diagnosis of pontocerebellar hypoplasia type 5, support prognostic counselling, guide family planning, and identify carriers among at-risk family members.
How to Prepare
- No fasting is required for this test.
- A genetic counseling session before the test is strongly recommended.
- If using an FTA card, apply one drop of blood to each marked circle and let it air-dry completely before packing.
- Label the sample with the patient's full name, date of birth, and date of collection.
- Send the sample in the provided transport pouch or sealed bag.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A confirmed genetic diagnosis of PCH5 provides families with accurate recurrence risk information and enables informed family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Improperly labeled FTA card or sample tube
- Sample received in a leaky, unsealed, or damaged container
- Extracted DNA without documented quality or quantity
- Sample not accompanied by clinical history, consent, or requisition form
Understanding Your Results
No pathogenic variant detected
A TSEN54 genetic cause is unlikely. However, variants in other PCH-associated genes or non-coding regions are not excluded. Clinical and radiological correlation is important.
Heterozygous pathogenic variant
Likely carrier state for an autosomal recessive condition. If the phenotype is strongly suggestive of PCH5, a second variant should be searched for, including large deletions or deep intronic variants.
Homozygous or compound heterozygous pathogenic variants
Consistent with molecular diagnosis of TSEN54-related pontocerebellar hypoplasia type 5.
Variant of uncertain significance (VUS)
Insufficient evidence to classify as benign or pathogenic. Additional family segregation studies, RNA studies, or clinical correlation may be required.
Consult a pediatric neurologist or clinical geneticist if a child shows developmental delay, poor head control, muscle weakness or stiffness, seizures, ataxia, abnormal eye movements, or breathing and feeding difficulties. A confirmed family history of pontocerebellar hypoplasia also warrants genetic consultation.
Limitations
- ⚠This NGS test is designed to analyze the TSEN54 gene only; it does not evaluate other genes that may cause pontocerebellar hypoplasia.
- ⚠Standard NGS may not detect all types of variants such as large deletions/duplications, tandem repeats, or balanced structural rearrangements.
- ⚠A negative result does not completely exclude PCH5; variants in other genes or non-coding regions should be considered.
- ⚠Variant classification may change over time as new scientific evidence emerges.
- ⚠This test is not intended for prenatal diagnosis without appropriate genetic counseling and informed consent.
Risks & Considerations
- ●No significant physical risks. Minimal discomfort, bruising, or bleeding may occur at the blood collection site.
- ●A small risk of infection at the venipuncture site, as with any blood draw.
- ●Psychological or emotional distress may be associated with receiving genetic test results.
Interfering Factors
- ●Inadequate DNA quantity or quality
- ●Sample contamination with another individual's DNA
- ●Sample mix-up or mislabeling
- ●Variants in non-coding or deep intronic regions may not be detected by standard NGS
- ●Large structural rearrangements, repeat expansions, or mosaicism may be missed
- ●Recent allogeneic bone marrow transplantation can affect germline results
Compare With Similar Tests
| Test | TSEN54 Gene Pontocerebellar hypoplasia type 5 NGS Genetic Test | TSEN54 Single Gene NGS Test | Pontocerebellar Hypoplasia NGS Panel |
|---|---|---|---|
| Comparison | TSEN54 Gene Pontocerebellar hypoplasia type 5 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the TSEN54 gene PCH5 NGS genetic test at DNA Labs India?
What is the TSEN54 gene and how is it related to PCH5?
What sample is required for this genetic test?
Do I need to fast before the TSEN54 NGS genetic test?
How long does it take to get the test report?
What does the NGS genetic test detect?
Who should undergo this test?
Is genetic counseling included with the test?
Can this test detect all types of pontocerebellar hypoplasia?
Will I receive raw data files with my report?
What does a negative result mean?
How can I book this test?
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