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AMPD2 Gene Pontocerebellar hypoplasia, type 9 NGS Genetic Test

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AMPD2 Gene Pontocerebellar hypoplasia, type 9 NGS Genetic Test

Short Name: AMPD2 NGS Genetic Test

Also known as: AMPD2 Gene NGS Test, Pontocerebellar Hypoplasia Type 9 Genetic Test

AMPD2 Gene Pontocerebellar hypoplasia, type 9 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 issued within 3 to 4 weeks of sample receipt. You will receive an email or WhatsApp notification when the report is ready.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this NGS genetic test is to identify pathogenic variants in the AMPD2 gene that are associated with Pontocerebellar Hypoplasia, Type 9. It also assists in confirmatory diagnosis, carrier identification, genetic counselling, and family risk assessment.

Test Code
4482
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are issued within 3 to 4 weeks of sample receipt. You will receive an email or WhatsApp notification when the report is ready.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Patients are advised to bring previous neurological assessment records and family history documents. A genetic counselling session is an important component of the pre-test process.

Method: Blood withdrawal or dried blood spot on FTA card

Step 2

Laboratory Analysis

A qualified phlebotomist will collect a small volume of blood using a sterile EDTA tube. In the case of an FTA card, one drop of blood is applied to each indicated circle and allowed to air-dry.

Step 3

Report Delivery

The patient can resume daily activities immediately. The collected sample will be transported to the laboratory for DNA extraction and NGS analysis.

Timeline: Reports are issued within 3 to 4 weeks of sample receipt. You will receive an email or WhatsApp notification when the report is ready.

Patient Instructions

1
Before the Test:Schedule a genetic counselling session and provide a three-generation family pedigree. No specific preparation such as fasting is needed.
2
During the Test:A small blood sample is collected. The process takes less than five minutes.
3
After the Test:No restrictions. The laboratory will communicate the sample status and reports through the selected delivery mode.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify pathogenic variants in the AMPD2 gene that are associated with Pontocerebellar Hypoplasia, Type 9. It also assists in confirmatory diagnosis, carrier identification, genetic counselling, and family risk assessment.

How to Prepare

  • No fasting required.
  • Use the EDTA blood collection tube provided by DNA Labs India.
  • Ensure the FTA blood spot is completely dry before placing it in the transport bag.
  • Clearly label the sample with the patient's full name, date of birth, and sample collection date.
  • Please forward the filled test request form and laboratory requisition slip along with the sample.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic results must be interpreted in the context of clinical symptoms, family history, and a documented pedigree. I recommend a post-test genetic counselling session to explain the implications for the patient and family members."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory protocol
ContainerEDTA tube / FTA card / DNA vial
Collection MethodBlood withdrawal or dried blood spot on FTA card

Sample Stability

Whole blood: transport at room temperature and ideally process within 24-48 hours.
Extracted DNA: stable for up to one week under refrigerated conditions.
FTA card: store at room temperature in a dry environment until shipment.
Sample Rejection Criteria:
  • Grossly haemolysed or clotted EDTA sample
  • Insufficient sample quantity
  • FTA card with contaminated or overlapping blood spots
  • Missing patient identifiers or signed consent
  • Sample received in a leaking or broken container

Understanding Your Results

The genetic report will describe whether a pathogenic variant was identified in the AMPD2 gene. Interpretation should be performed by a clinical geneticist, especially when the result is positive or when a variant of uncertain significance is reported.
📊

No pathogenic variant detected

Reduces the likelihood of AMPD2-related Pontocerebellar Hypoplasia Type 9; however, the disorder cannot be completely excluded if clinical suspicion is high.

📊

Pathogenic or likely pathogenic variant detected

Supports a molecular diagnosis of AMPD2-related disease when consistent with clinical features. Genetic counselling is recommended.

📊

Variant of uncertain significance (VUS)

The clinical impact is currently unclear. Additional family segregation studies may help determine whether the variant is disease-causing.

⚠️ When to Consult a Doctor:

If the result is positive, uncertain, or if the patient continues to have progressive neurological symptoms, please consult a neurologist and a clinical geneticist for comprehensive management, further testing, and family counselling.

Limitations

  • ⚠This is a targeted single-gene test and will not detect mutations in other genes involved in pontocerebellar hypoplasia.
  • ⚠NGS may not detect all mutation types, such as large deletions, deep intronic variants, or trinucleotide repeat expansions.
  • ⚠A variant of uncertain significance (VUS) may be reported; additional family testing may be needed to classify the variant.

Risks & Considerations

  • ●Minimal bleeding at the puncture site
  • ●Small chance of bruising
  • ●Very low risk of infection

Interfering Factors

  • ●Inadequate DNA concentration or degraded DNA
  • ●Contamination of sample during collection
  • ●FTA card not dried completely before packing
  • ●Improper sample labelling or patient identification
  • ●Clinical misclassification or unavailable family history

Compare With Similar Tests

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Frequently Asked Questions

What is the cost of the AMPD2 gene PCH type 9 NGS genetic test?
The total cost is INR 20,000. Free home sample collection is available for online bookings across many cities in India.
What type of sample is required for this test?
The test is performed on blood, extracted DNA, or one drop of blood spotted on an FTA card.
Do I need to fast before the AMPD2 NGS test?
No, fasting is not required for this genetic test.
How long will the results take?
The turnaround time is 3 to 4 weeks after the sample reaches the laboratory.
What technology is used for AMPD2 gene analysis?
Next-generation sequencing (NGS) technology is used to comprehensively analyze the AMPD2 gene.
Which symptoms are associated with Pontocerebellar Hypoplasia Type 9?
Symptoms include delayed motor development, coordination and balance difficulties, hypotonia, seizures, intellectual disability, nystagmus, and speech-language impairment.
Can this test identify carriers of AMPD2 mutations?
Yes, genetic testing can identify mutations in the AMPD2 gene and can be used for carrier testing in appropriate family and clinical situations.
Is genetic counselling included in the test process?
Yes, a genetic counselling session is part of the test to draw a pedigree chart and review family history.
What does a positive AMPD2 test result mean?
A positive result means a mutation associated with Pontocerebellar Hypoplasia Type 9 has been identified. The report should be interpreted by a clinical geneticist.
Will this test cover other genes related to pontocerebellar hypoplasia?
No, this is a targeted single-gene NGS test for AMPD2 only. It does not analyze other PCH-related genes.
Is home sample collection available for this test?
Yes, DNA Labs India provides free home sample collection for online bookings in multiple cities across India.
What should I do before giving the sample?
No special preparation is required. Contact DNA Labs India to schedule collection, and bring any relevant medical and family history documents to the genetic counselling session.
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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