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TMEM67 Gene COACH syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TMEM67 Gene COACH syndrome NGS Genetic Test

Short Name: COACH Syndrome Genetic Test

Also known as: TMEM67 Mutation Test, COACH Syndrome DNA Test, Genetic Test for COACH Syndrome

TMEM67 Gene COACH syndrome 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 TestAll Ages🏠 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 TMEM67 Gene COACH Syndrome NGS Genetic Test is to identify pathogenic mutations in the TMEM67 gene, which is linked to COACH syndrome. This test aids in confirming diagnosis, guiding treatment plans, and providing genetic counseling for families, ensuring early intervention and support.

Test Code
1564
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 patient and genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Blood sample collection via venipuncture or using FTA card for one drop of blood.

Step 3

Report Delivery

Sample sent to laboratory for NGS analysis. Results available in 3-4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation.
2
During the Test:Sample collection and laboratory analysis.
3
After the Test:Result interpretation and follow-up counseling.

About This Test

Who Should Get This Test

The purpose of the TMEM67 Gene COACH Syndrome NGS Genetic Test is to identify pathogenic mutations in the TMEM67 gene, which is linked to COACH syndrome. This test aids in confirming diagnosis, guiding treatment plans, and providing genetic counseling for families, ensuring early intervention and support.

How to Prepare

  • Ensure proper sample labeling
  • Use sterile collection tubes
  • Follow sample stability guidelines

Doctor's Notes

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

"Genetic testing for TMEM67 gene mutations is essential for accurate diagnosis of COACH syndrome, enabling appropriate management and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood samples: Stable for 24-48 hours at room temperature
Extracted DNA: Stable for longer periods
Sample Rejection Criteria:
  • Haemolyzed samples
  • Clotted samples
  • Insufficient sample volume

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the TMEM67 gene.
Positive result: Pathogenic mutation detected, indicating COACH syndrome
Negative result: No pathogenic mutations found, but clinical correlation is needed
Variant of uncertain significance: Further testing may be required
⚠️ When to Consult a Doctor:

If symptoms of COACH syndrome are present or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠False negatives possible
  • ⚠Results should be interpreted in clinical context

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Possible bruising at collection site

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample collection

Compare With Similar Tests

TestTMEM67 Gene COACH syndrome NGS Genetic Test
ComparisonTMEM67 Gene COACH syndrome NGS Genetic Test

Frequently Asked Questions

What is COACH syndrome?
COACH syndrome is a rare autosomal recessive genetic disorder characterized by cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis, often linked to TMEM67 gene mutations.
What is the TMEM67 gene?
The TMEM67 gene encodes a protein involved in cilia function, and mutations in this gene are associated with COACH syndrome and other ciliopathies.
How is the TMEM67 Gene COACH Syndrome NGS Genetic Test performed?
The test uses next-generation sequencing (NGS) to analyze the TMEM67 gene from a blood or DNA sample, detecting pathogenic mutations.
What is the cost of the test?
The cost of the TMEM67 Gene COACH Syndrome NGS Genetic Test at DNA Labs India is INR 20000, including testing, analysis, and interpretation.
Is the test covered by insurance?
Insurance coverage varies; check with your provider. DNA Labs India offers affordable options regardless.
Who should consider this test?
Individuals with symptoms of COACH syndrome, such as abnormal eye movements, intellectual disability, or seizures, and those with a family history of the disorder.
What sample is required for the test?
Blood or extracted DNA, or one drop of blood on an FTA card, is required.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates detection of a pathogenic mutation in the TMEM67 gene, confirming diagnosis of COACH syndrome.
What does a negative result mean?
A negative result means no pathogenic mutations were found in the TMEM67 gene, but clinical correlation is advised as other factors may be involved.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
Is genetic counseling provided with the test?
Yes, a genetic counseling session is included to discuss results, implications, and family planning.
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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