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CHMP1A Gene Pontocerebellar hypoplasia type 8 NGS Genetic Test

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CHMP1A Gene Pontocerebellar hypoplasia type 8 NGS Genetic Test

Short Name: CHMP1A NGS Test for PCH8

Also known as: PCH8 Genetic Test, CHMP1A Gene Mutation Test

CHMP1A Gene Pontocerebellar hypoplasia type 8 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 3 to 4 weeks from sample receipt. 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 the clinical diagnosis of Pontocerebellar Hypoplasia Type 8 by identifying pathogenic variants in the CHMP1A gene through NGS, and to provide accurate genetic information for affected families.

Test Code
4475
CPT Code
81479
ICD Code
G31.8
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting required. A genetic counselling session is recommended prior to testing. Please provide any relevant medical records and family history.

Method: Venipuncture or FTA card spot sampling

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist, or a dried blood spot on FTA card may be collected as per instructions.

Step 3

Report Delivery

No specific precautions are required. You may resume normal activities immediately.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:No special preparation is needed. Ensure you have a referral from your treating doctor and complete the consent process.
2
During the Test:The sample collection takes only a few minutes. For blood, a small amount is drawn from a vein. For FTA card, a drop of blood is applied to the card.
3
After the Test:You can go home immediately. The DNA sample is processed in the laboratory, and the report is shared online, via email, or WhatsApp within 3-4 weeks.

About This Test

Who Should Get This Test

To confirm the clinical diagnosis of Pontocerebellar Hypoplasia Type 8 by identifying pathogenic variants in the CHMP1A gene through NGS, and to provide accurate genetic information for affected families.

How to Prepare

  • Bring a valid ID and the requisition form.
  • No special preparation or fasting is needed.
  • For FTA card, follow the provided blood spot collection instructions.

Doctor's Notes

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

"Genetic testing for PCH8 is important for reproductive counselling and family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA card spot sampling
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Insufficient quantity of sample or DNA
  • Improper label or missing consent form

Understanding Your Results

The test result is interpreted by a clinical geneticist. Molecular findings are correlated with the presenting phenotype to provide a conclusive report.
📊

Positive (Pathogenic variant detected)

Confirms the clinical diagnosis of PCH8. Genetic counselling and family testing are recommended.

📊

Negative (No pathogenic variant detected)

No CHMP1A mutation was identified. Other causes of pontocerebellar hypoplasia should be considered.

📊

Variant of Uncertain Significance (VUS)

A genetic change was found but its clinical significance is not fully known. Additional testing or family segregation studies may be needed.

⚠️ When to Consult a Doctor:

If you or your child experience developmental delays, hypotonia, seizures, or other symptoms suggestive of PCH8, consult a neurologist or paediatrician for a clinical evaluation.

Limitations

  • ⚠This test detects mutations in the coding regions of the CHMP1A gene.
  • ⚠Large deletions, duplications, or deep intronic variants may not be detected by standard NGS.
  • ⚠Results should be interpreted in the context of clinical findings.

Risks & Considerations

  • ●Minimal risk of bleeding or bruising at the needle site
  • ●Slight discomfort during blood draw

Frequently Asked Questions

What is the cost of the CHMP1A gene PCH8 NGS genetic test at DNA Labs India?
The cost of the test is Rs 20,000.
What sample is required for the CHMP1A NGS genetic test?
The test requires a blood sample, extracted DNA, or one drop of blood collected on an FTA card.
Is home sample collection available for this test?
Yes, DNA Labs India provides free home sample collection for online bookings across major cities in India.
What is the turnaround time for the test report?
The report is usually available within 3 to 4 weeks after the sample is received by the laboratory.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
What does the NGS genetic test for CHMP1A detect?
The test detects mutations in the CHMP1A gene that are responsible for Pontocerebellar Hypoplasia Type 8.
Who should consider taking this test?
Individuals who show symptoms of PCH8, such as developmental delay, hypotonia, and seizures, or those with a family history of the condition, should consider this test.
What is Pontocerebellar Hypoplasia Type 8?
PCH8 is a rare genetic disorder characterized by underdevelopment of the brainstem and cerebellum, leading to severe neurodevelopmental impairment.
Do I need genetic counselling before the test?
Yes, a genetic counselling session is included in the test package to help you understand the benefits, risks, and implications of genetic testing.
Can this test be used for prenatal diagnosis?
This test is designed for postnatal diagnosis. Prenatal diagnosis requires a separate invasive procedure and should be discussed with your specialist.
How will I receive my test results?
You will receive your results via the online patient portal, email, and WhatsApp.
Is the test covered by insurance?
Coverage depends on your insurance provider. We recommend checking with your insurer for genetic testing reimbursement details.
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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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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