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COQ8A Gene Spinocerebellar ataxia type 9, autosomal rececssive NGS Genetic Test

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COQ8A Gene Spinocerebellar ataxia type 9, autosomal rececssive NGS Genetic Test

Short Name: COQ8A Gene SCA9 Test

Also known as: Spinocerebellar ataxia type 9, SCA9, COQ8A-related ataxia

COQ8A Gene Spinocerebellar ataxia type 9, autosomal rececssive 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)🏠 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 this test is to confirm a diagnosis of Spinocerebellar ataxia type 9 (SCA9) by detecting pathogenic mutations in the COQ8A gene using next-generation sequencing technology.

Test Code
4583
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 is required. Ensure proper identification and consent.

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist using sterile equipment.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Keep the area clean.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the test, implications, and provide informed consent.
2
During the Test:Sample collection and laboratory processing using NGS technology.
3
After the Test:Results will be available in 3-4 weeks. Genetic counseling is recommended for interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to confirm a diagnosis of Spinocerebellar ataxia type 9 (SCA9) by detecting pathogenic mutations in the COQ8A gene using next-generation sequencing technology.

How to Prepare

  • Ensure patient identification is correct
  • Use sterile collection tubes
  • Label samples with patient details
  • Transport samples at ambient temperature

Doctor's Notes

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

"Genetic testing for SCA9 is crucial for accurate diagnosis and family planning. Consult a genetic counselor for personalized advice and management strategies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or identification

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the COQ8A gene associated with Spinocerebellar ataxia type 9.
Positive: Pathogenic variant(s) detected, consistent with SCA9 diagnosis
Negative: No pathogenic variants detected, reducing likelihood of SCA9
Variant of uncertain significance (VUS): Further testing or family studies may be needed
⚠️ When to Consult a Doctor:

If symptoms of ataxia are present, or if there is a family history of SCA9, consult a neurologist or genetic counselor for evaluation and testing.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results may have implications for family members

Risks & Considerations

  • ●Minimal risks from blood draw: bruising, infection, or discomfort
  • ●Psychological impact of genetic results on patient and family

Interfering Factors

  • ●Sample degradation
  • ●Contamination
  • ●Hemolyzed sample

Compare With Similar Tests

TestCOQ8A Gene Spinocerebellar ataxia type 9, autosomal rececssive NGS Genetic TestTraditional Sanger SequencingMRI BrainClinical Neurological Examination
ComparisonCOQ8A Gene Spinocerebellar ataxia type 9, autosomal rececssive NGS Genetic Test

Frequently Asked Questions

What is Spinocerebellar ataxia type 9 (SCA9)?
SCA9 is a rare genetic disorder affecting the nervous system, caused by mutations in the COQ8A gene, leading to progressive coordination problems.
How is SCA9 inherited?
SCA9 follows an autosomal recessive pattern, meaning both parents must carry one mutated copy of the COQ8A gene for a child to be affected.
What are the common symptoms of SCA9?
Symptoms include unsteady gait, tremors, difficulty with fine motor skills, slurred speech, loss of coordination, and eye movement problems.
How is SCA9 diagnosed?
Diagnosis is confirmed through genetic testing, such as NGS, to identify mutations in the COQ8A gene from a blood sample.
What is NGS Genetic Testing?
Next-generation sequencing (NGS) is a advanced technology that analyzes multiple genes simultaneously, offering cost-effective and comprehensive genetic analysis.
What is the cost of the COQ8A Gene SCA9 NGS Test?
The test costs INR 20000.0 at DNA Labs India, with home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is this test covered by insurance?
Coverage depends on your insurance plan; it is not universally covered. Check with your provider for details.
What should I do after a positive test result?
Consult a genetic counselor or neurologist for interpretation, management options, and family planning advice.
Can SCA9 be prevented?
There is no cure, but genetic testing can aid in early diagnosis and informed family planning to reduce transmission risk.
Who should consider getting tested for SCA9?
Individuals with symptoms of ataxia or a family history of SCA9 should consider genetic testing after consulting a healthcare provider.
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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