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EXOSC3 Gene Pontocerebellar hypoplasia type 1B NGS Genetic Test

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EXOSC3 Gene Pontocerebellar hypoplasia type 1B NGS Genetic Test

Short Name: EXOSC3 PCH1B NGS

Also known as: EXOSC3 Gene Mutation Test, PCH1B NGS Genetic Test, Pontocerebellar Hypoplasia Type 1B Sequencing

EXOSC3 Gene Pontocerebellar hypoplasia type 1B NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or One Drop Blood on FTA Card samples. Results in Reports are typically delivered within 3 to 4 weeks from the date the sample reaches the laboratory. Urgent analysis or additional confirmatory Sanger sequencing may require more time.. 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

The primary purpose of this NGS genetic test is to identify mutations in the EXOSC3 gene that cause Pontocerebellar Hypoplasia Type 1B. This analysis helps confirm a clinical diagnosis, differentiate PCH1B from other pontocerebellar hypoplasia subtypes, provide insights into disease prognosis, and inform genetic counseling and reproductive decisions.

Test Code
4465
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One Drop Blood on FTA Card
Result Time
Reports are typically delivered within 3 to 4 weeks from the date the sample reaches the laboratory. Urgent analysis or additional confirmatory Sanger sequencing may require more time.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation or fasting is required. Patients or families should discuss the purpose, risks, and benefits of genetic testing with their healthcare provider or genetic counselor. Provide informed consent before sample collection.

Method: Peripheral Blood Collection / Dried Blood Spot

Step 2

Laboratory Analysis

For blood sample collection, a trained phlebotomist will collect 2-5 mL of peripheral blood in an EDTA vacutainer. For FTA card, a drop of blood is applied to the designated area on the card. The procedure is quick and carries minimal risk.

Step 3

Report Delivery

The sample will be stored and transported according to standard protocols. Patients can track the progress of the test and will receive a report via email or online portal within 3-4 weeks. Genetic counseling is recommended after results to discuss implications.

Timeline: Reports are typically delivered within 3 to 4 weeks from the date the sample reaches the laboratory. Urgent analysis or additional confirmatory Sanger sequencing may require more time.

Patient Instructions

1
Before the Test:Before undergoing this test, patients are encouraged to have a genetic counseling session to create a pedigree, discuss inheritance risk, and set expectations. No dietary changes are needed.
2
During the Test:The process is simple: a paramedic visits your home (or you can visit a collection center), a blood sample or FTA card blood spot is collected, labeled, and dispatched to our laboratory for NGS analysis.
3
After the Test:After testing, the laboratory will perform rigorous bioinformatics analysis. A comprehensive report will be sent to your registered email and phone. We recommend scheduling an appointment with the clinical geneticist to review the results.

About This Test

Who Should Get This Test

The primary purpose of this NGS genetic test is to identify mutations in the EXOSC3 gene that cause Pontocerebellar Hypoplasia Type 1B. This analysis helps confirm a clinical diagnosis, differentiate PCH1B from other pontocerebellar hypoplasia subtypes, provide insights into disease prognosis, and inform genetic counseling and reproductive decisions.

How to Prepare

  • Ensure the FTA card is properly labeled with patient name and date of collection
  • For blood collected in EDTA, gently invert the tube 8-10 times to mix the blood with the anticoagulant
  • Ship the sample at ambient temperature for FTA cards; EDTA blood should be refrigerated if transport is delayed
  • Avoid hemolysis by using a needle with adequate flow and mixing gently

Doctor's Notes

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

"Genetic testing for EXOSC3 mutations is essential for accurate diagnosis and reproductive risk assessment. Pre-test genetic counseling helps families understand the implications, limitations, and potential outcomes of this test."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One Drop Blood on FTA Card
ContainerEDTA Vacutainer or FTA Card
Collection MethodPeripheral Blood Collection / Dried Blood Spot

Sample Stability

Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted blood
  • Sample improperly labeled
  • FTA card saturated with heparin
  • Exposure of sample to extreme temperatures for prolonged periods

Understanding Your Results

The genetic test report will list any detected variants in the EXOSC3 gene. Pathogenic and likely pathogenic variants that help confirm PCH1B will be highlighted. Variants of uncertain significance (VUS) are not used for clinical diagnosis and may require further testing of family members.
Two pathogenic variants in EXOSC3 in trans (parents each carrying one) confirm the diagnosis of PCH type 1B
One pathogenic variant plus a likely pathogenic variant indicates a molecular diagnosis in most cases
A single pathogenic variant in an unaffected individual implies carrier status for autosomal recessive PCH1B
A homozygous pathogenic variant in the patient indicates disease, with both parents being carriers
No pathogenic variants suggest that EXOSC3 is not the cause, but other PCH-related genes should be considered
VUS results require correlation with clinical findings and familial segregation analysis before final interpretation
⚠️ When to Consult a Doctor:

Consult a clinical geneticist or genetic counselor immediately after receiving your test report. They will help interpret the results, explain inheritance patterns, coordinate family carrier testing, and discuss reproductive options such as preimplantation genetic testing or prenatal testing.

Limitations

  • ⚠NGS may not detect large deletions, duplications, or structural rearrangements in the EXOSC3 gene
  • ⚠Variants in regulatory regions or deep intronic regions are not covered
  • ⚠Mosaic mutations may not be detected depending on allele frequency
  • ⚠Interpretation of variants of uncertain significance may require additional family studies
  • ⚠This test does not rule out other genetic causes of PCH if clinical suspicion remains

Risks & Considerations

  • ●No clinical risks are associated with venous blood collection apart from slight bruising
  • ●FTA card blood spot is minimally invasive and safe for infants and children
  • ●Psychological impact of receiving a genetic diagnosis
  • ●Potential cost implications if further family testing is needed

Interfering Factors

  • ●Poor DNA quality or quantity from degraded samples
  • ●Contamination with PCR inhibitors
  • ●Incomplete coverage of certain genomic regions
  • ●Misalignment due to high GC content

Compare With Similar Tests

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Frequently Asked Questions

What is the EXOSC3 gene NGS genetic test?
It is a next-generation sequencing test that analyzes the EXOSC3 gene to detect mutations associated with Pontocerebellar Hypoplasia Type 1B (PCH1B). NGS sequences the entire coding region and splice sites, providing a comprehensive view of the gene.
What does Pontocerebellar Hypoplasia Type 1B mean?
PCH1B is a rare inherited neurological disease affecting the development of the pons and cerebellum. It is caused by mutations in the EXOSC3 gene and presents with symptoms such as hypotonia, developmental delay, seizures, and intellectual disability.
How is the test performed?
A blood sample or a dried blood spot on an FTA card is collected. Next-generation sequencing is performed on the DNA extracted from the sample. The test reads the entire EXOSC3 gene and compares it to a reference to identify any pathogenic variants.
Why is NGS preferred for this test?
NGS offers high accuracy and sensitivity, allows detection of variants across all exons simultaneously, and is faster and more cost-effective compared to traditional Sanger sequencing for a single gene. It also minimizes the risk of missing variants in regions routinely analyzed.
Who should consider this test?
This test is recommended for individuals showing symptoms of PCH, those with a family history of PCH1B or related disorders, and couples planning pregnancy who are known carriers of EXOSC3 mutations. It is also useful for prenatal diagnosis in high-risk pregnancies.
What is the cost of the test in India?
The cost of the EXOSC3 NGS genetic test at DNA Labs India is Rs 20000.0. This price includes the complete analysis, free home sample collection, and a comprehensive report. Discounts or package offers may be available.
Is fasting required before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection. No other special preparation is needed.
What is the turnaround time?
Results are generally delivered within 3 to 4 weeks after the sample reaches the laboratory. The exact time may vary if repeat tests or additional validations are necessary.
What kind of sample is needed?
The test requires a peripheral blood sample (in an EDTA tube) or a single drop of blood applied to an FTA card. Extracted DNA from another laboratory is also accepted if it meets quality standards.
What do the test results mean?
A report stating 'no pathogenic variants detected' means no harmful mutations were found in the EXOSC3 gene. If one or two pathogenic variants are found, the report will interpret them as consistent with carrier status (one variant) or confirming PCH1B (two variants).
Can this test be used for family screening?
Yes. Once a pathogenic EXOSC3 mutation is identified in an affected individual, the test can be used to test siblings and other relatives for carrier status. This helps in genetic counseling and assessing reproductive risk.
How can I book this test?
You can book online through the DNA Labs India website or contact our call center. Home sample collection is available in select cities across India. A technician will visit your location to collect the appropriate sample at no extra cost.
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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