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MKS1 Gene Bardet-Biedl syndrome type 13 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MKS1 Gene Bardet-Biedl syndrome type 13 NGS Genetic Test

Also known as: Bardet-Biedl Syndrome Type 13, BBS13, MKS1 Gene Disorder

MKS1 Gene Bardet-Biedl syndrome type 13 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, 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) Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

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 MKS1 gene that cause Bardet-Biedl Syndrome Type 13, enabling accurate diagnosis, management planning, and genetic counseling for affected individuals and families.

Test Code
5372
Price
₹20,000
Sample Type
Blood, 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

Genetic counseling recommended. Provide clinical history and family pedigree.

Method: Venipuncture for blood, or provided for DNA/FTA card

Step 2

Laboratory Analysis

Blood sample drawn via venipuncture or DNA/FTA card provided.

Step 3

Report Delivery

Sample sent to lab for analysis. Results in 3-4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review.
2
During the Test:Sample collection and processing.
3
After the Test:Report generation and consultation.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the MKS1 gene that cause Bardet-Biedl Syndrome Type 13, enabling accurate diagnosis, management planning, and genetic counseling for affected individuals and families.

How to Prepare

  • Fast not required
  • Bring identification and prescription
  • Inform about any medications

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early diagnosis through NGS testing can guide management and family counseling for Bardet-Biedl Syndrome Type 13."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Collection MethodVenipuncture for blood, or provided for DNA/FTA card

Sample Stability

Blood: 2-8°C for 48 hours
DNA: Stable at room temperature
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the MKS1 gene associated with Bardet-Biedl Syndrome Type 13.
📊

Pathogenic mutation detected

Confirms diagnosis of BBS Type 13. Genetic counseling and management recommended.

📊

No pathogenic mutation detected

BBS Type 13 unlikely, but clinical correlation needed. Consider other genetic tests.

⚠️ When to Consult a Doctor:

If symptoms of BBS are present or if family history suggests risk, consult a geneticist or specialist for evaluation and testing.

Limitations

  • ⚠Test only detects mutations in MKS1 gene; other BBS genes not covered
  • ⚠May not detect all types of mutations
  • ⚠Results require clinical correlation

Risks & Considerations

  • ●Bruising
  • ●Infection
  • ●Fainting

Interfering Factors

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

Compare With Similar Tests

TestMKS1 Gene Bardet-Biedl syndrome type 13 NGS Genetic Test
ComparisonMKS1 Gene Bardet-Biedl syndrome type 13 NGS Genetic Test

Frequently Asked Questions

What is Bardet-Biedl Syndrome Type 13?
Bardet-Biedl Syndrome Type 13 is a rare genetic disorder caused by mutations in the MKS1 gene, affecting multiple organ systems including eyes, kidneys, and nervous system.
What causes BBS Type 13?
It is caused by mutations in the MKS1 gene, which is involved in cilia function, leading to the syndrome's symptoms.
What are the symptoms of BBS Type 13?
Symptoms include obesity, retinal degeneration, intellectual disability, kidney abnormalities, polydactyly, hypogonadism, and developmental delays.
How is BBS Type 13 diagnosed?
Diagnosis is through genetic testing, such as NGS, to detect mutations in the MKS1 gene, along with clinical evaluation.
What is the MKS1 Gene NGS Genetic Test?
It is a next-generation sequencing test that analyzes the MKS1 gene for mutations to diagnose Bardet-Biedl Syndrome Type 13.
What does the test cost?
The test costs INR 20,000 at DNA Labs India, including sample collection, analysis, and report.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Who should consider this test?
Individuals with symptoms of BBS, family history of the disorder, or those seeking genetic counseling for at-risk families.
What are the limitations of the test?
The test only detects mutations in the MKS1 gene and may not cover all BBS-related genes. Results should be correlated with clinical findings.
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

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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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