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SCA-14 (Spinocerebellar Ataxia): PRKCG Gene Mutation Test

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SCA-14 (Spinocerebellar Ataxia): PRKCG Gene Mutation Test

Short Name: SCA-14 PRKCG Gene Mutation Test

Also known as: SCA14 Genetic Test, PRKCG Gene Mutation Test, Spinocerebellar Ataxia Type 14 Test

SCA-14 (Spinocerebellar Ataxia): PRKCG Gene Mutation Test test available at DNA Labs India for ₹7,500. Uses PCR, Sequencing on Whole blood samples. Results in Reports are delivered in 10-12 days from sample receipt.. Free home collection in 300+ cities across India.

Molecular Genetic Test🏠 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 the PRKCG gene mutation test is to identify a disease-causing mutation in the PRKCG gene, specifically in exon 4, in patients suspected to have SCA-14. This test can help differentiate SCA-14 from other causes of progressive ataxia, support a clinical diagnosis, guide management decisions, and enable at-risk relatives to understand their own genetic risk. It should always be used in conjunction with clinical evaluation and genetic counselling.

Test Code
3636
Price
₹7,500
Sample Type
Whole blood
Result Time
Reports are delivered in 10-12 days from sample receipt.
Fasting Required
No
Method
PCR, Sequencing
Step 1

Sample Collection

No fasting is required. Please ensure the mandatory Genomics Clinical Information Requisition Form (Form 20) is completed and signed before sample collection. Genetic counselling is strongly recommended before testing.

Method: Venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist will collect venous blood in a lavender top (EDTA) tube. The procedure is quick and may cause mild discomfort at the puncture site.

Step 3

Report Delivery

No dietary or activity restrictions are needed after collection. The blood sample should be transported refrigerated and must not be frozen.

Timeline: Reports are delivered in 10-12 days from sample receipt.

Patient Instructions

1
Before the Test:No special preparation is needed. No fasting is required. Genetic counselling is strongly recommended before testing to understand the implications of the result.
2
During the Test:A phlebotomist will draw blood from a vein. The procedure takes only a few minutes. The sample should be labelled and kept cool until it reaches the laboratory.
3
After the Test:You can resume normal activities immediately. The laboratory will share the report through online portal, email, or WhatsApp in 10-12 days. A doctor or genetic counsellor should explain the result.

About This Test

Who Should Get This Test

The purpose of the PRKCG gene mutation test is to identify a disease-causing mutation in the PRKCG gene, specifically in exon 4, in patients suspected to have SCA-14. This test can help differentiate SCA-14 from other causes of progressive ataxia, support a clinical diagnosis, guide management decisions, and enable at-risk relatives to understand their own genetic risk. It should always be used in conjunction with clinical evaluation and genetic counselling.

How to Prepare

  • Complete the mandatory Genomics Clinical Information Requisition Form (Form 20).
  • Collect 4 mL (2 mL minimum) of whole blood in a lavender top (EDTA) tube.
  • Ship the sample refrigerated.
  • Do not freeze the sample.

Doctor's Notes

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

"In a patient with progressive cerebellar ataxia, the PRKCG gene test is most informative when interpreted alongside detailed neurological examination, family history, and pre-test counselling. A positive result should always be followed by structured post-test counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole blood
Sample Volume4 mL (2 mL min.)
Container1 Lavender top (EDTA) tube
Collection MethodVenipuncture

Sample Stability

Room Temperature: 6 hours
Refrigerator: 1 week
Frozen: Not acceptable (NA)
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Sample received frozen
  • Sample without a duly filled Genomics Clinical Information Requisition Form (Form 20)
  • Sample received in an incorrect container

Understanding Your Results

This test result should be interpreted by the ordering clinician and a clinical geneticist. The result alone is not a full diagnosis; it must be correlated with the patient's symptoms, family history, and neurological examination.
📊

No pathogenic mutation detected

No PRKCG exon 4 hotspot mutation was found. This reduces the likelihood of SCA-14 caused by exon 4 variants but does not exclude all SCA-14 or other ataxia subtypes.

📊

Pathogenic or likely pathogenic variant detected

A disease-causing PRKCG gene variant was identified. This supports a diagnosis of SCA-14 and enables predictive testing of at-risk relatives after genetic counselling.

📊

Variant of uncertain significance detected

A DNA change was found, but its clinical significance is not yet established. Further family segregation studies and expert review are recommended.

⚠️ When to Consult a Doctor:

See a neurologist or clinical geneticist if you or a family member develops progressive imbalance, slurred speech, involuntary eye movements, tremors, or difficulty with fine motor skills. Genetic testing should be done only after clinical evaluation and counselling.

Limitations

  • ⚠This test analyses only exon 4 of PRKCG, which is a known hotspot; mutations in other exons or large deletions/duplications may not be detected.
  • ⚠A negative result does not rule out other causes of spinocerebellar ataxia.
  • ⚠A variant of uncertain significance may require additional family studies to clarify risk.
  • ⚠This is not a whole-genome or whole-exome sequencing test.

Risks & Considerations

  • ●Minimal risk of bruising or mild pain at the venipuncture site
  • ●Rare risk of infection or excessive bleeding

Interfering Factors

  • ●Clotted or haemolysed blood sample
  • ●Sample received frozen
  • ●Insufficient DNA quantity or quality
  • ●Recent allogeneic stem cell transplant or blood transfusion may affect whole-blood DNA results

Compare With Similar Tests

TestSCA-14 (Spinocerebellar Ataxia): PRKCG Gene Mutation TestSCA-14 PRKCG Gene Mutation TestOther SCA-specific gene tests
ComparisonSCA-14 (Spinocerebellar Ataxia): PRKCG Gene Mutation Test

Frequently Asked Questions

What is SCA-14?
SCA-14 is a rare, slowly progressive spinocerebellar ataxia caused by mutations in the PRKCG gene. It may cause coordination difficulties, balance problems, dysarthria, nystagmus, and sometimes tremor or cognitive changes.
What does the PRKCG gene mutation test do?
The test looks for mutations in the PRKCG gene, focusing on exon 4, which is a hotspot for SCA-14. It uses PCR and DNA sequencing to detect sequence changes.
Who should order this test?
A neurologist or clinical geneticist may order this test for a patient with progressive cerebellar ataxia, dysarthria, nystagmus, or a family history of autosomal dominant ataxia.
Do I need to fast before this test?
No. Fasting is not required for the PRKCG gene mutation test.
What sample is required?
A whole blood sample of 4 mL (2 mL minimum) in a lavender top EDTA tube is required.
How should my blood sample be stored or transported?
The sample should be transported refrigerated. Do not freeze it. At room temperature it is stable for about 6 hours and in a refrigerator for up to 1 week.
What is the price of the SCA-14 PRKCG gene mutation test?
The test price at DNA Labs India is Rs 7,500.
Is home sample collection available?
Yes. DNA Labs India offers free home sample collection for online bookings in many cities across India.
How long does the test take?
The report is usually available in 10-12 days after the sample is received.
What is included in the test result?
The result indicates whether a pathogenic, likely pathogenic, or uncertain PRKCG variant was detected, or whether no mutation was found in the tested exon 4 region.
Can this test detect all inherited ataxias?
No. This test only detects PRKCG gene mutations associated with SCA-14. Other spinocerebellar ataxias require separate gene-specific tests.
Should I have genetic counselling before and after the test?
Yes. Genetic counselling is strongly recommended before and after the test to understand the medical, psychological, and family implications of the result.
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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