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PPP2R2B Gene Spinocerebellar ataxia type 12, autosomal dominant NGS Genetic Test

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PPP2R2B Gene Spinocerebellar ataxia type 12, autosomal dominant NGS Genetic Test

Short Name: SCA12 NGS Genetic Test

Also known as: SCA12 Genetic Test, PPP2R2B Mutation Analysis, Spinocerebellar Ataxia Type 12 DNA Test

PPP2R2B Gene Spinocerebellar ataxia type 12, autosomal dominant 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. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)Adults🏠 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

The purpose of this test is to diagnose Spinocerebellar ataxia type 12 by detecting mutations in the PPP2R2B gene using Next-Generation Sequencing (NGS). It aids in confirming clinical suspicion, guiding treatment strategies, and facilitating genetic counseling for affected individuals and their families.

Test Code
4564
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counseling session is required to draw a pedigree chart of family members affected with SCA12. Provide clinical history of the patient.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture. For FTA card, a single drop of blood is sufficient.

Step 3

Report Delivery

Sample will be processed for NGS analysis. Reports are delivered in 3 to 4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are mandatory before sample collection.
2
During the Test:Blood sample collection via venipuncture or FTA card. No special preparation needed.
3
After the Test:Sample analysis takes 3-4 weeks. Reports are shared via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Spinocerebellar ataxia type 12 by detecting mutations in the PPP2R2B gene using Next-Generation Sequencing (NGS). It aids in confirming clinical suspicion, guiding treatment strategies, and facilitating genetic counseling for affected individuals and their families.

How to Prepare

  • Ensure proper identification of the patient.
  • Use sterile collection tubes or FTA cards as specified.
  • Label samples correctly with patient details.
  • Transport samples at ambient room temperature.

Doctor's Notes

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

"Early genetic diagnosis of SCA12 can aid in symptom management and family planning. Genetic counseling is recommended before and after testing."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the PPP2R2B gene. A positive result confirms SCA12 diagnosis, while a negative result may require further clinical evaluation.
📊

Pathogenic variant detected

Confirms diagnosis of Spinocerebellar ataxia type 12. Genetic counseling and symptom management are recommended.

📊

No pathogenic variant detected

SCA12 is unlikely, but clinical correlation is advised. Consider other genetic or non-genetic causes.

⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if you experience symptoms like coordination problems, tremors, or speech difficulties, especially with a family history of ataxia.

Limitations

  • ⚠This test may not detect all possible mutations in the PPP2R2B gene.
  • ⚠Results should be interpreted in conjunction with clinical findings and family history.
  • ⚠Genetic counseling is recommended to understand implications.

Risks & Considerations

  • ●Minor bruising or pain at the blood draw site
  • ●Rare risk of infection at puncture site
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Hemolyzed or degraded DNA samples may affect test accuracy.
  • ●Recent blood transfusions could interfere with genetic analysis.

Frequently Asked Questions

What is the PPP2R2B Gene Spinocerebellar ataxia type 12 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the PPP2R2B gene, which causes Spinocerebellar ataxia type 12 (SCA12).
What is the cost of this test?
The test costs INR 20000, with home sample collection available across India.
What are the symptoms of SCA12?
Symptoms include difficulty with coordination and balance, tremors, speech and swallowing problems, muscle stiffness, and impaired fine motor skills.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to identify mutations in the PPP2R2B gene.
Is fasting required for this test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
What should I do before getting tested?
A genetic counseling session is required to discuss family history and draw a pedigree chart.
Can this test be used for prenatal diagnosis?
This test is for diagnostic purposes in symptomatic individuals. Prenatal testing may require separate consultation.
What if the test result is negative?
A negative result means no pathogenic variants were detected, but clinical correlation is advised as symptoms may have other causes.
How accurate is this NGS test?
NGS is highly accurate for detecting gene mutations, but it may not identify all possible variants. Genetic counseling is recommended for interpretation.
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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Your medical data is protected under Indian law.

✓ 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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