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TSEN54 Gene Pontocerebellar hypoplasia type 2A NGS Genetic Test

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TSEN54 Gene Pontocerebellar hypoplasia type 2A NGS Genetic Test

Short Name: TSEN54 PCH2A NGS Test

Also known as: TSEN54 Gene Mutation Test, PCH2A Genetic Test, Pontocerebellar Hypoplasia Type 2A Panel, TSEN54 NGS Analysis

TSEN54 Gene Pontocerebellar hypoplasia type 2A NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Validation if required on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are delivered within 3 to 4 weeks after sample collection. You may be contacted for additional sample if testing fails.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To confirm a clinical suspicion of Pontocerebellar hypoplasia type 2A (PCH2A) by detecting pathogenic variants in the TSEN54 gene, and to support clinical management, prognosis, family planning, and genetic counseling.

Test Code
4468
CPT Code
81406
ICD Code
Q04.3
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 sample collection. You may be contacted for additional sample if testing fails.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Validation if required
Step 1

Sample Collection

No special preparation is required. Genetic counseling is recommended to discuss the benefits, limitations, and implications of the test.

Method: Blood draw or FTA card spot

Step 2

Laboratory Analysis

A blood sample is drawn by a qualified phlebotomist. For FTA card, a small drop of blood is placed on the card.

Step 3

Report Delivery

Sample is transported to the laboratory. Results are available in 3 to 4 weeks.

Timeline: Reports are delivered within 3 to 4 weeks after sample collection. You may be contacted for additional sample if testing fails.

Patient Instructions

1
Before the Test:Schedule an appointment, get pre-test counseling, and provide necessary clinical history.
2
During the Test:Sample collection takes about 5-10 minutes. Please follow instructions from the phlebotomist.
3
After the Test:Await reports. Discuss results with a genetic counselor for appropriate next steps.

About This Test

Who Should Get This Test

To confirm a clinical suspicion of Pontocerebellar hypoplasia type 2A (PCH2A) by detecting pathogenic variants in the TSEN54 gene, and to support clinical management, prognosis, family planning, and genetic counseling.

How to Prepare

  • Please carry a valid medical prescription or referral
  • If using FTA card, ensure the card is properly labeled with patient details
  • For extracted DNA, provide at least 5 µg of quality DNA

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for TSEN54 variants is essential for providing accurate recurrence risk counseling and early medical intervention."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeNot specified
ContainerEDTA tube or FTA card
Collection MethodBlood draw or FTA card spot

Sample Stability

Blood: 3 days at room temperature
FTA card: stable for 3 months at room temperature
Extracted DNA: 1 week at 2-8°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Improperly labeled samples
  • Insufficient quantity of DNA or blood

Understanding Your Results

Interpreting the results of the TSEN54 NGS genetic test depends on the presence of pathogenic variants and the individual's clinical presentation.
📊

No pathogenic variants detected

TSEN54-related PCH2A is unlikely. Other genetic causes may be considered.

📊

Heterozygous pathogenic variant

Individual is a carrier and may require parental testing to confirm autosomal recessive pattern.

📊

Homozygous pathogenic variant

Both alleles have mutations; this confirms a molecular diagnosis of PCH2A.

📊

Compound heterozygous pathogenic variants

Two different mutations on each allele; confirms autosomal recessive PCH2A.

⚠️ When to Consult a Doctor:

If your child has symptoms suggestive of PCH2A or if you have a family history of the disorder, consult a genetic specialist or neurologist for further evaluation.

Risks & Considerations

  • ●Rare possibility of bruising at the blood collection site
  • ●Minimal risk of infection with skin puncture
  • ●No significant biological risks are associated with genetic testing

Interfering Factors

  • ●Inadequate DNA quantity or quality
  • ●Contamination during sample collection
  • ●Rare variants in non-coding regions not covered by standard NGS may be missed

Compare With Similar Tests

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Frequently Asked Questions

What is the TSEN54 gene pontocerebellar hypoplasia type 2A NGS genetic test?
This is a targeted next-generation sequencing test that analyzes the TSEN54 gene to identify pathogenic variants associated with Pontocerebellar Hypoplasia Type 2A (PCH2A), a rare neurological disorder.
What conditions are caused by TSEN54 gene mutations?
Mutations in the TSEN54 gene are primarily associated with Pontocerebellar Hypoplasia Type 2A (PCH2A), characterized by severe intellectual disability, motor impairment, and various neurological symptoms.
Who should consider this genetic test?
This test is recommended for individuals with symptoms suggestive of PCH2A, including developmental delay, muscle tone abnormalities, seizures, or a family history of the disorder. It can also be used for carrier testing in at-risk family members.
What is the cost of the TSEN54 gene genetic test at DNA Labs India?
The cost is INR 20000.0 (Rs 20000.0), which includes the test, sample collection, analysis, clinical report, and raw data files.
What sample is required for the TSEN54 NGS test?
The test can be performed on a blood sample, extracted DNA, or a single drop of blood on an FTA card.
How long will it take to get the test results?
The turnaround time is 3 to 4 weeks from sample collection. Please note that the exact time may depend on the sample quality and the laboratory workflow.
What is the methodology used for this test?
The test uses next-generation sequencing (NGS) technology to read the complete coding region of the TSEN54 gene and detect mutations, followed by Sanger sequencing for validation when necessary.
Does this test detect carriers of PCH2A?
Yes, the test can identify heterozygous carriers who have one pathogenic variant in the TSEN54 gene but do not show symptoms. This is important for family planning and genetic counseling.
Will this test help in prenatal diagnosis?
Once a pathogenic variant is confirmed in a family, prenatal testing can be offered through separate amniocentesis or chorionic villus sampling procedures. This NGS test is primarily for diagnostic confirmation in affected individuals and carrier testing.
What is the significance of getting raw data files along with the report?
Raw data files such as FASTQ and VCF allow to verify the results, enable secondary analysis, and can be crucial for future re-analysis if novel disease genes are discovered. DNA Labs India provides these files to ensure transparency.
Are there any special preparations before the test?
No special preparation is required. However, a genetic counseling session is recommended to draw a pedigree chart and discuss the clinical history of the family.
What are the features of PCH2A?
PCH2A features include severe intellectual disability, developmental delay, weakness or stiffness in limbs, abnormal muscle tone, difficulty swallowing, seizures, abnormal breathing, and visual impairment. These typically appear in infancy or early childhood.
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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