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PLEKHG4 Gene Spinocerebellar ataxia type 4, autosomal dominant NGS Genetic Test

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PLEKHG4 Gene Spinocerebellar ataxia type 4, autosomal dominant NGS Genetic Test

Short Name: PLEKHG4 Gene SCA4 Genetic Test

Also known as: Spinocerebellar ataxia type 4, SCA4, PLEKHG4-related ataxia, Autosomal dominant spinocerebellar ataxia type 4

PLEKHG4 Gene Spinocerebellar ataxia type 4, autosomal dominant NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

NGS Genetic TestAdults🏠 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 purpose of this test is to diagnose Spinocerebellar ataxia type 4 (SCA4) by detecting mutations in the PLEKHG4 gene using next-generation sequencing (NGS). It aids in confirming clinical suspicion, guiding treatment plans, and facilitating genetic counseling for at-risk individuals.

Test Code
4574
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
NGS Technology
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree during genetic counseling.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card by trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store sample as per instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss family history and draw a pedigree chart. No fasting required.
2
During the Test:Sample collection via blood draw or FTA card. Procedure is minimally invasive.
3
After the Test:Results available in 3-4 weeks. Follow-up with genetic counselor for result interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Spinocerebellar ataxia type 4 (SCA4) by detecting mutations in the PLEKHG4 gene using next-generation sequencing (NGS). It aids in confirming clinical suspicion, guiding treatment plans, and facilitating genetic counseling for at-risk individuals.

How to Prepare

  • Ensure proper identification and labeling of samples
  • Use sterile equipment for blood collection
  • For FTA card, follow manufacturer instructions for blood application
  • Transport samples at ambient temperature unless specified

Doctor's Notes

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

"Genetic testing for SCA4 is crucial for early diagnosis and family planning, especially in cases with a family history of neurological disorders."

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

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Incorrect sample type or insufficient volume
  • Missing patient information or consent

Understanding Your Results

Results from the PLEKHG4 Gene SCA4 Genetic Test indicate the presence or absence of pathogenic mutations. Interpretation should be done by a qualified geneticist in conjunction with clinical findings.
📊

Positive for pathogenic mutation

Confirms diagnosis of SCA4. Genetic counseling recommended for family members.

📊

Negative for pathogenic mutation

SCA4 unlikely based on this gene, but clinical evaluation may continue for other causes.

📊

Variant of uncertain significance (VUS)

Further testing or family studies may be needed. Consult a geneticist for guidance.

⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if you experience symptoms of progressive ataxia, have a family history of SCA4, or receive a positive or uncertain test result for appropriate management and counseling.

Limitations

  • ⚠May not detect all rare variants or deep intronic mutations
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Cannot predict disease severity or onset age precisely

Risks & Considerations

  • ●Minor bruising or discomfort at blood draw site
  • ●Minimal risk of infection
  • ●Psychological impact of genetic results; counseling provided

Interfering Factors

  • ●Hemolyzed or degraded DNA samples
  • ●Insufficient sample volume
  • ●Contamination during sample collection

Frequently Asked Questions

What is the PLEKHG4 Gene SCA4 Genetic Test?
It is an NGS-based test to diagnose Spinocerebellar ataxia type 4 by detecting mutations in the PLEKHG4 gene.
Who should consider this test?
Individuals with symptoms of progressive ataxia, family history of SCA4, or those seeking genetic confirmation.
What is the cost of the test in India?
The test costs INR 20000 at DNA Labs India, with free home sample collection.
How is the sample collected?
Via blood draw or one drop on an FTA card, with home collection available across India.
What are the symptoms of SCA4?
Symptoms include unsteadiness, coordination issues, slurred speech, swallowing difficulties, eye movement abnormalities, and muscle weakness.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is fasting required for this test?
No, fasting is not required for the PLEKHG4 Gene SCA4 Genetic Test.
What does a positive result mean?
A positive result confirms a diagnosis of SCA4, and genetic counseling is recommended for family planning.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
What is the accuracy of NGS genetic testing?
NGS technology provides high accuracy for detecting gene mutations, but results should be interpreted clinically.
Are there any risks associated with the test?
Risks are minimal, such as slight bruising from blood draw, with psychological support available through counseling.
How can I book this test?
You can book online through DNA Labs India's website or contact them via phone or WhatsApp for assistance.
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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