MKS1 Gene Meckel syndrome type 1 NGS Genetic Test
Short Name: MKS1 NGS Test
Also known as: MKS1, Meckel-Gruber Syndrome Type 1, Meckel Syndrome Type 1
MKS1 Gene Meckel syndrome type 1 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
To confirm diagnosis of Meckel Syndrome Type 1 by detecting pathogenic mutations in the MKS1 gene using Next Generation Sequencing, aiding in clinical management and genetic counseling.
- Test Code
- 5448
- 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 (8 hours)
- Method
- Next Generation Sequencing (NGS)
Sample Collection
Genetic counseling session recommended. Provide clinical history and family pedigree. Fasting for 8-12 hours may be required.
Method: Venipuncture
Laboratory Analysis
Blood sample drawn via venipuncture or use of FTA card for one drop of blood. Minimal discomfort expected.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities. Results will be available in 3-4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To confirm diagnosis of Meckel Syndrome Type 1 by detecting pathogenic mutations in the MKS1 gene using Next Generation Sequencing, aiding in clinical management and genetic counseling.
How to Prepare
- Ensure patient is fasting if required
- Use sterile equipment for blood collection
- Label samples correctly with patient details
- Transport samples at ambient temperature unless specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This NGS test is crucial for confirming Meckel Syndrome Type 1, enabling informed family planning and management of affected individuals."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed or clotted blood samples
- Incorrect labeling or missing patient information
Understanding Your Results
Negative
No pathogenic variants detected in MKS1 gene. Clinical correlation recommended if symptoms persist.
Positive
Pathogenic variant(s) identified, confirming diagnosis of Meckel Syndrome Type 1. Genetic counseling advised.
VUS (Variant of Uncertain Significance)
Variant detected but clinical significance unknown. Further testing or family studies may be needed.
Consult a geneticist or specialist if test results are positive, if there is a family history of Meckel Syndrome, or if prenatal findings suggest ciliopathy.
Limitations
- ⚠May not detect large genomic rearrangements or deep intronic mutations
- ⚠Variants of uncertain significance (VUS) may be identified requiring further analysis
- ⚠Does not rule out mutations in other genes associated with similar phenotypes
Risks & Considerations
- ●Minor pain or bruising at blood draw site
- ●Risk of infection (very low)
- ●Psychological impact of genetic results
Interfering Factors
- ●Poor sample quality or insufficient DNA quantity
- ●Contamination during sample collection or processing
- ●Hemolyzed or degraded blood samples
Compare With Similar Tests
| Test | MKS1 Gene Meckel syndrome type 1 NGS Genetic Test | Sanger Sequencing | Chromosomal Microarray | Prenatal Ultrasound |
|---|---|---|---|---|
| Comparison | MKS1 Gene Meckel syndrome type 1 NGS Genetic Test |
Frequently Asked Questions
What is Meckel Syndrome Type 1?
What is the MKS1 gene?
How is the MKS1 Gene Test performed?
What is the cost of the MKS1 Gene Test in India?
Is home sample collection available for this test?
How long does it take to receive the test results?
What are the risks associated with the genetic test?
Can this test be done during pregnancy?
What does a positive test result mean?
Is genetic counseling included with the test?
How accurate is the NGS technology for detecting MKS1 mutations?
Are there alternative tests for diagnosing Meckel Syndrome?
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₹20,000Reference 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.
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
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