TMEM67 Gene Meckel syndrome type 3 NGS Genetic Test
Short Name: Meckel Syndrome Type 3 Genetic Test
Also known as: Meckel-Gruber Syndrome Type 3, MKS3
TMEM67 Gene Meckel syndrome type 3 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify mutations in the TMEM67 gene to diagnose Meckel syndrome type 3, aiding in clinical management, genetic counseling, and family planning.
- Test Code
- 5453
- 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)
Sample Collection
No specific preparation required. Provide detailed clinical history and family pedigree during genetic counseling session.
Method: Blood Sample Collection
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist using standard venipuncture techniques.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the TMEM67 gene to diagnose Meckel syndrome type 3, aiding in clinical management, genetic counseling, and family planning.
How to Prepare
- No fasting is required for this test
- Bring valid identification and doctor's prescription or referral
- Inform the healthcare provider about any medications or supplements being taken
- Ensure proper labeling of the sample with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This genetic test is essential for confirming Meckel syndrome type 3 in suspected cases, especially in families with a history of ciliopathies, aiding in clinical management and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume for testing
- Incorrectly labeled or unlabeled samples
- Samples collected in inappropriate containers
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of Meckel syndrome type 3. Genetic counseling is recommended for family planning and management.
Negative for pathogenic variant
Meckel syndrome type 3 is unlikely, but clinical correlation is needed as symptoms may be due to other causes.
Variant of uncertain significance (VUS)
Further testing, family studies, or functional analysis may be required to determine clinical significance.
Consult a geneticist or healthcare provider if symptoms suggestive of Meckel syndrome are present, for family planning after positive results, or for interpretation of variants of uncertain significance.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or deep intronic variants
- ⚠Results require clinical correlation and genetic counseling for interpretation
- ⚠Does not rule out other genetic disorders with overlapping symptoms
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising, pain, or rare infection
- ●Psychological impact of results, including anxiety or stress
- ●Potential for uncertain results requiring further testing
Interfering Factors
- ●Sample contamination during collection or processing
- ●Degraded DNA quality affecting sequencing accuracy
- ●Technical errors in next-generation sequencing
Compare With Similar Tests
| Test | TMEM67 Gene Meckel syndrome type 3 NGS Genetic Test | BBS1 Gene Test for Bardet-Biedl Syndrome | PKD1 Gene Test for Polycystic Kidney Disease |
|---|---|---|---|
| Comparison | TMEM67 Gene Meckel syndrome type 3 NGS Genetic Test |
Frequently Asked Questions
What is Meckel syndrome type 3?
How is Meckel syndrome type 3 inherited?
What are the common symptoms of Meckel syndrome type 3?
How is Meckel syndrome type 3 diagnosed?
What does the TMEM67 gene test involve?
What is the cost of the TMEM67 gene test in India?
Is home sample collection available for this test?
How long does it take to receive the test results?
What preparation is needed before the test?
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Can this test be performed during pregnancy?
Who should consider getting the TMEM67 gene test?
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