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TSEN2 Gene Pontocerebellar hypoplasia type 2B NGS Genetic Test

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TSEN2 Gene Pontocerebellar hypoplasia type 2B NGS Genetic Test

Short Name: TSEN2 PCH2B NGS Genetic Test

Also known as: TSEN2 Gene Testing, PCH2B NGS Genetic Test, TSEN2 Mutation Analysis, Pontocerebellar Hypoplasia Type 2B Genetic Test

TSEN2 Gene Pontocerebellar hypoplasia type 2B NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood / Extracted DNA / FTA Card Blood Spot samples. Results in The clinical report is generally available in 3 to 4 weeks after sample receipt. Raw data files, including FASTQ and VCF, are shared along with the report.. Free home collection in 300+ cities across India.

Molecular Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To detect pathogenic variants in the TSEN2 gene and confirm the molecular diagnosis of pontocerebellar hypoplasia type 2B. The test is used in individuals with suggestive clinical findings, brain imaging abnormalities, or a family history of PCH2B.

Test Code
4472
Price
₹20,000
Sample Type
Blood / Extracted DNA / FTA Card Blood Spot
Result Time
The clinical report is generally available in 3 to 4 weeks after sample receipt. Raw data files, including FASTQ and VCF, are shared along with the report.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counselling session is required before testing to review clinical history and draw a pedigree chart of family members affected with TSEN2 gene-associated disease.

Method: Peripheral blood draw or FTA card blood spot

Step 2

Laboratory Analysis

A peripheral blood sample is collected by a trained phlebotomist. If using an FTA card, one drop of blood is spotted onto the card and allowed to dry. Extracted DNA samples can be submitted in a labeled vial.

Step 3

Report Delivery

No special precautions are needed. The sample should be transported at ambient temperature. Reports are generally available in 3 to 4 weeks.

Timeline: The clinical report is generally available in 3 to 4 weeks after sample receipt. Raw data files, including FASTQ and VCF, are shared along with the report.

Patient Instructions

1
Before the Test:A genetic counselling session is required before testing to document clinical history and draw a pedigree chart of family members affected with TSEN2 gene-associated disease.
2
During the Test:The laboratory performs DNA extraction and targeted NGS sequencing of the TSEN2 gene. No additional patient action is required during the test period.
3
After the Test:The clinical geneticist reviews the sequencing data, classifies variants, and prepares the report. A genetic counselor can explain the results and recurrence risks.

About This Test

Who Should Get This Test

To detect pathogenic variants in the TSEN2 gene and confirm the molecular diagnosis of pontocerebellar hypoplasia type 2B. The test is used in individuals with suggestive clinical findings, brain imaging abnormalities, or a family history of PCH2B.

How to Prepare

  • Carry a valid government ID and physician referral or prescription if available.
  • Inform the lab about any history of bone marrow transplant or clotting disorder.
  • Allow FTA card blood spots to air dry before placing them in the protective sleeve.
  • Ensure the sample container is clearly labeled with the patient's name and date of collection.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"PCH2B is a complex neurogenetic disorder. Families should receive genetic counseling so that the benefits, limitations, recurrence risk, and implications for relatives are fully understood before a definitive genetic diagnosis is used for clinical management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood / Extracted DNA / FTA Card Blood Spot
Sample Volume3-5 mL whole blood OR 5 µg extracted DNA OR one FTA card spot
ContainerEDTA tube / DNA vial / FTA card
Collection MethodPeripheral blood draw or FTA card blood spot

Sample Stability

Whole blood in EDTA: transport to the lab within 24-48 hours at room temperature.
Extracted DNA: stable for months when stored at -20°C.
FTA card: stable for weeks at room temperature when protected from moisture and direct heat.
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Unlabeled or incorrectly labeled sample
  • Insufficient DNA quantity or quality
  • Broken, contaminated, or wet FTA card

Understanding Your Results

This NGS test targets the TSEN2 gene only. Results should be interpreted by trained genetic clinicians in the context of clinical symptoms, neuroimaging findings, and family history. Variants are classified using current ACMG/AMP guidelines.
📊

Molecular confirmation of PCH2B in a symptomatic individual. Genetic counseling is recommended.

📊

Insufficient evidence to determine disease causality. Additional family studies and clinical evaluation may be needed.

📊

Does not rule out PCH2B. Other genes and clinical causes should be considered by the treating physician.

⚠️ When to Consult a Doctor:

If a child has early-onset hypotonia, feeding difficulties, developmental delay, seizures, respiratory abnormalities, or neuroimaging showing pontocerebellar hypoplasia, consult a pediatric neurologist or clinical geneticist.

Limitations

  • ⚠NGS may not reliably detect large deletions, duplications, or structural variants affecting TSEN2
  • ⚠Deep intronic, promoter, and promoter-region variants are generally not detected by targeted gene sequencing
  • ⚠A negative result does not exclude the diagnosis if clinical suspicion is high
  • ⚠Variant classification is based on current evidence and may change over time

Risks & Considerations

  • ●Minor discomfort or bruising at the blood collection site
  • ●Lightheadedness during blood collection in rare cases
  • ●No serious side effects are expected from genetic testing

Interfering Factors

  • ●Poor DNA quality or quantity causing sequencing failure
  • ●Sample mix-up or incorrect labeling
  • ●Reduced coverage in GC-rich or repetitive regions
  • ●Low-level mosaicism below the detection threshold
  • ●Consanguinity affecting variant interpretation

Frequently Asked Questions

What is pontocerebellar hypoplasia type 2B?
Pontocerebellar hypoplasia type 2B (PCH2B) is a rare genetic neurological disorder caused by mutations in the TSEN2 gene. It affects the development of the cerebellum and pons, causing symptoms such as low muscle tone, feeding problems, developmental delay, seizures, and breathing issues in infancy or early childhood.
What does the TSEN2 gene do?
The TSEN2 gene provides instructions for making a subunit of the tRNA splicing endonuclease complex. This complex processes tRNA molecules, which are essential for translating genetic information into proteins.
What is NGS genetic testing?
Next-generation sequencing is a high-throughput DNA sequencing method that can read the genetic code of one or multiple genes simultaneously. It is highly effective for identifying mutations in genes such as TSEN2.
What sample is required for this test?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card. A blood sample collected in an EDTA tube is the most common method.
Is fasting required before the test?
No, fasting is not required for this TSEN2 gene NGS genetic test.
How much does the TSEN2 PCH2B NGS genetic test cost?
At DNA Labs India, the test costs Rs 20000.0. Free home sample collection is available for online bookings across select cities in India.
How long does it take to get the reports?
Reports are generally available in 3 to 4 weeks. DNA Labs India shares raw data files, FASTQ and VCF, along with the conclusive clinical report.
What do positive TSEN2 test results mean?
A pathogenic variant in the TSEN2 gene confirms the diagnosis of PCH2B in a person with compatible clinical features. Genetic counseling is strongly recommended before and after testing.
Can this test be used for carrier testing?
In families with a known TSEN2 pathogenic variant, targeted carrier testing may be appropriate in at-risk adult relatives. Results should always be interpreted by a genetics professional.
Is genetic counseling required before the test?
Yes, genetic counseling is recommended and is included in the test process. A counseling session is used to review clinical history, draw a pedigree chart, and discuss the implications of the test result.
Will I receive raw sequencing data?
Yes. DNA Labs India is transparent and provides raw data files, including FASTQ and VCF files, along with the clinical test report.
Can PCH2B be treated or cured?
There is currently no cure for PCH2B. Treatment is supportive and focuses on managing symptoms such as feeding difficulties, seizures, respiratory problems, and developmental delay. Genetic testing helps confirm the diagnosis and assess recurrence risk in the family.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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