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TMEM240 Gene Spinocerebellar ataxia type 21, autosomal dominant NGS Genetic Test

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TMEM240 Gene Spinocerebellar ataxia type 21, autosomal dominant NGS Genetic Test

Short Name: SCA21 Genetic Test

Also known as: SCA21 Genetic Test, TMEM240 Gene Test, Spinocerebellar Ataxia Type 21 DNA Test

TMEM240 Gene Spinocerebellar ataxia type 21, 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.

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 detect mutations in the TMEM240 gene to confirm diagnosis of Spinocerebellar Ataxia Type 21, an autosomal dominant disorder. It helps in early diagnosis, genetic counseling, and family planning.

Test Code
4570
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

No special preparation required. Provide clinical history and family pedigree.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session. Provide detailed medical and family history.
2
During the Test:Sample collection and analysis using NGS technology.
3
After the Test:Receive report and discuss with healthcare provider. Consider genetic counseling for family.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the TMEM240 gene to confirm diagnosis of Spinocerebellar Ataxia Type 21, an autosomal dominant disorder. It helps in early diagnosis, genetic counseling, and family planning.

How to Prepare

  • Bring identification and doctor's prescription
  • Inform about any medications
  • Ensure sample is properly labeled

Doctor's Notes

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

"Genetic testing for SCA21 is essential for early diagnosis and management. Consult a genetic counselor for family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect sample type

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the TMEM240 gene. Consult a geneticist for detailed interpretation.
Normal result: No mutation detected, but clinical correlation needed
Abnormal result: Mutation detected, confirm diagnosis and assess risk
Variant of uncertain significance: Further testing may be required
⚠️ When to Consult a Doctor:

If you experience symptoms of SCA21 or have a family history, consult a neurologist or geneticist.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have implications for family members

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection
  • ●Psychological impact of results

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage
  • ●DNA degradation

Compare With Similar Tests

TestTMEM240 Gene Spinocerebellar ataxia type 21, autosomal dominant NGS Genetic Test
ComparisonTMEM240 Gene Spinocerebellar ataxia type 21, autosomal dominant NGS Genetic Test

Frequently Asked Questions

What is TMEM240 Gene Spinocerebellar Ataxia Type 21?
SCA21 is a rare autosomal dominant neurological disorder caused by mutations in the TMEM240 gene, leading to progressive ataxia and other symptoms.
What are the symptoms of SCA21?
Symptoms include progressive ataxia, dysarthria, cognitive impairment, tremors, nystagmus, peripheral neuropathy, psychiatric symptoms, and seizures.
How is SCA21 diagnosed?
Diagnosis is confirmed through genetic testing, specifically NGS to detect mutations in the TMEM240 gene.
What is the cost of the genetic test in India?
The cost is INR 20,000 at DNA Labs India, with free home sample collection available.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across India for this test.
How long does it take to get the results?
Results are typically available in 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates a pathogenic variant in the TMEM240 gene, confirming SCA21 diagnosis. Genetic counseling is recommended.
Is genetic counseling required?
Yes, genetic counseling is recommended before and after testing to understand implications and family planning.
Can this test be done for prenatal diagnosis?
Prenatal testing may be possible; consult a geneticist for options and counseling.
What are the risks of the test?
Risks are minimal, mainly from blood draw (bruising, infection), but psychological impact of results should be considered.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. DNA Labs India offers affordable pricing.
How do I prepare for the test?
No special preparation needed. Provide clinical history and family pedigree during genetic counseling.
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.

LIMS Integration

Your Data Privacy

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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