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TMEM67 Gene Joubert syndrome type 6 NGS Genetic Test

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TMEM67 Gene Joubert syndrome type 6 NGS Genetic Test

Short Name: TMEM67 Gene Joubert Syndrome Type 6 Test

Also known as: Joubert Syndrome Type 6 Genetic Test, TMEM67 Mutation Analysis

TMEM67 Gene Joubert syndrome type 6 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.

Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect mutations in the TMEM67 gene to confirm Joubert syndrome type 6, guide clinical management, assess prognosis, and support family planning through genetic counseling. It provides definitive diagnosis and helps differentiate from other subtypes of Joubert syndrome.

Test Code
1651
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
Yes
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling session is recommended to discuss test implications. Provide detailed clinical history and family pedigree of affected members.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample is collected via standard venipuncture procedure. For FTA card, one drop of blood is applied.

Step 3

Report Delivery

Sample is processed and sent for NGS analysis. Reports are delivered within 3-4 weeks through online portal, email, or WhatsApp.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent are required. Discuss test purpose, implications, and limitations with a healthcare provider.
2
During the Test:Sample collection involves a simple blood draw. The process is non-invasive with minimal discomfort.
3
After the Test:Reports are analyzed and reviewed by geneticists. Follow-up consultations are recommended for result interpretation and management.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the TMEM67 gene to confirm Joubert syndrome type 6, guide clinical management, assess prognosis, and support family planning through genetic counseling. It provides definitive diagnosis and helps differentiate from other subtypes of Joubert syndrome.

How to Prepare

  • Fast for 8-12 hours if specified by physician
  • Avoid hemolysis during blood draw by using proper techniques
  • Ensure correct labeling of samples with patient details
  • Store samples at ambient room temperature if not processed immediately

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic testing for TMEM67 mutations is essential for confirming Joubert syndrome type 6 and guiding family planning and management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood samples: stable at 2-8°C for up to 24 hours
Extracted DNA: stable at -20°C for long-term storage
FTA card samples: stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improper labeling or missing documentation
  • Contaminated samples

Understanding Your Results

Results are interpreted based on the presence of pathogenic or likely pathogenic variants in the TMEM67 gene, indicating Joubert syndrome type 6. Genetic counseling is advised for result understanding.
📊

Pathogenic variant detected

Consistent with Joubert syndrome type 6; clinical correlation and genetic counseling recommended.

📊

Likely pathogenic variant detected

Probable Joubert syndrome type 6; further evaluation and family testing may be advised.

📊

Variant of uncertain significance

Requires additional testing or family studies for clarification.

📊

No pathogenic variant detected

Joubert syndrome type 6 is unlikely; consider testing for other genes or clinical reassessment.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as delayed development, hypotonia, or abnormal eye movements are present, or for genetic counseling regarding family planning or test results.

Limitations

  • ⚠May not detect all mutation types such as large deletions or duplications
  • ⚠Requires clinical correlation for interpretation
  • ⚠False negatives possible in rare cases

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results, requiring counseling support

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Technical errors in sequencing process

Frequently Asked Questions

What is Joubert syndrome type 6?
Joubert syndrome type 6 is a rare genetic disorder caused by mutations in the TMEM67 gene, leading to brain and organ development issues, often with the 'molar tooth sign' on imaging.
What causes Joubert syndrome type 6?
It is caused by mutations in the TMEM67 gene, which affects meckelin protein production essential for primary cilium function in cells.
What are the symptoms of Joubert syndrome type 6?
Symptoms include delayed motor development, hypotonia, ataxia, cognitive impairment, abnormal eye movements, breathing patterns, and kidney abnormalities.
How is Joubert syndrome type 6 diagnosed?
Diagnosis involves clinical evaluation, brain imaging showing the 'molar tooth sign,' and genetic testing like NGS to identify TMEM67 gene mutations.
What is the TMEM67 gene?
The TMEM67 gene provides instructions for making meckelin protein, crucial for primary cilium development and function in various tissues.
What is NGS genetic testing?
NGS (Next-Generation Sequencing) is a technology that rapidly sequences DNA to detect mutations across genes, used here for TMEM67 gene analysis.
What is the cost of TMEM67 gene test in India?
The cost is INR 20,000 at DNA Labs India, which includes sample collection, analysis, and reporting.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What should I do before the test?
Undergo genetic counseling, provide clinical history and family pedigree, and follow any preparation instructions like fasting if required.
What do the results mean?
Results indicate if pathogenic variants in TMEM67 are detected, confirming Joubert syndrome type 6. Genetic counseling helps interpret implications.
Can this test be used for prenatal diagnosis?
Yes, it can be used for prenatal diagnosis in at-risk families, but requires genetic counseling and may involve additional procedures like amniocentesis.
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

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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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