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NOP56 Gene Spinocerebellar ataxia type 36, autosomal dominant NGS Genetic Test

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NOP56 Gene Spinocerebellar ataxia type 36, autosomal dominant NGS Genetic Test

Short Name: SCA36 NGS Test

Also known as: SCA36, Spinocerebellar ataxia type 36, NOP56-related ataxia

NOP56 Gene Spinocerebellar ataxia type 36, 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the NOP56 Gene SCA36 NGS Genetic Test is to confirm the diagnosis of Spinocerebellar ataxia type 36 by detecting pathogenic mutations in the NOP56 gene. This test aids in early detection, guides clinical management, supports genetic counseling for family planning, and helps differentiate SCA36 from other neurological disorders with similar symptoms.

Test Code
4572
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are required before sample collection.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS Technology in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and undergo genetic counseling to assess family risk and understand test implications.
2
During the Test:Sample collection involves a simple blood draw or use of an FTA card, with no special procedures required.
3
After the Test:Results are available in 3 to 4 weeks. Discuss findings with a healthcare provider for appropriate management.

About This Test

Who Should Get This Test

The purpose of the NOP56 Gene SCA36 NGS Genetic Test is to confirm the diagnosis of Spinocerebellar ataxia type 36 by detecting pathogenic mutations in the NOP56 gene. This test aids in early detection, guides clinical management, supports genetic counseling for family planning, and helps differentiate SCA36 from other neurological disorders with similar symptoms.

How to Prepare

  • Blood sample: Collect in EDTA tube or use extracted DNA.
  • One drop blood on FTA card is also acceptable.
  • Ensure proper labeling and transport at ambient room temperature.

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Understanding Your Results

Results from the NOP56 Gene SCA36 NGS Genetic Test indicate the presence or absence of pathogenic mutations in the NOP56 gene. Positive results confirm SCA36 diagnosis, while negative results may require further clinical evaluation.
📊

Positive for pathogenic NOP56 mutation

Confirms diagnosis of Spinocerebellar ataxia type 36. Genetic counseling and management planning are recommended.

📊

Negative for pathogenic mutation

No mutation detected in the NOP56 gene. Clinical correlation and additional testing may be needed if symptoms persist.

📊

Variant of uncertain significance (VUS)

Genetic variant found but clinical significance is unknown. Follow-up with genetic counseling and periodic re-evaluation is advised.

⚠️ When to Consult a Doctor:

Consult a neurologist or genetic specialist if you experience symptoms such as progressive ataxia, myoclonus, speech difficulties, or cognitive decline, especially with a family history of similar conditions.

Limitations

  • ⚠Test may not detect all genetic variants or mutations in non-coding regions.
  • ⚠Results require correlation with clinical findings and family history.
  • ⚠Genetic counseling is recommended for interpretation and implications.

Risks & Considerations

  • ●Minimal physical risks from blood draw, such as bruising or discomfort.
  • ●Potential psychological impact from test results, including anxiety or distress.
  • ●Risk of incidental findings or variants of uncertain significance.

Frequently Asked Questions

What is Spinocerebellar ataxia type 36 (SCA36)?
SCA36 is a rare genetic disorder caused by mutations in the NOP56 gene, leading to progressive nervous system dysfunction with symptoms like ataxia, myoclonus, and cognitive issues.
What causes SCA36?
SCA36 is caused by a mutation in the NOP56 gene, inherited in an autosomal dominant pattern, meaning one copy of the mutated gene from a parent can cause the condition.
What are the common symptoms of SCA36?
Symptoms include unsteadiness (ataxia), tremors, twitching (myoclonus), speech and swallowing difficulties, memory problems, cognitive impairment, depression, and anxiety.
How is SCA36 diagnosed?
Diagnosis involves clinical evaluation, neurological exams, MRI imaging, and genetic testing such as the NOP56 gene NGS test to confirm mutations.
What is the NOP56 gene NGS test?
It is a next-generation sequencing genetic test that analyzes the NOP56 gene for mutations associated with SCA36, using blood or DNA samples.
What is the cost of the NOP56 gene test in India?
The cost is approximately INR 20000, with possible variations based on location and additional services.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Is genetic counseling recommended before testing?
Yes, genetic counseling is advised to understand the implications, draw a family pedigree chart, and discuss inheritance patterns.
Can SCA36 be treated or cured?
There is no cure for SCA36, but early diagnosis allows for symptomatic management, physical therapy, and supportive care to improve quality of life.
How can I book the NOP56 gene test?
You can book the test online through DNA Labs India's website, with options for home sample collection in numerous cities across India.
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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