Skip to main content
DNA Labs India

MKKS Gene McKusick-Kaufman syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MKKS Gene McKusick-Kaufman syndrome NGS Genetic Test

Short Name: MKKS Gene Test

Also known as: MKS, McKusick-Kaufman Syndrome

MKKS Gene McKusick-Kaufman syndrome 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 3-4 weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 3, 2026

Overview

To diagnose McKusick-Kaufman Syndrome by identifying mutations in the MKKS gene using NGS technology.

Test Code
2534
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history and genetic counseling session recommended.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure.

Step 3

Report Delivery

Sample sent to lab for analysis.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation.
2
During the Test:Blood sample collection.
3
After the Test:Wait for results and follow-up with genetic counselor.

About This Test

Who Should Get This Test

To diagnose McKusick-Kaufman Syndrome by identifying mutations in the MKKS gene using NGS technology.

How to Prepare

  • Fast not required
  • Provide clinical history
  • Genetic counseling advised

Doctor's Notes

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

"This test is crucial for diagnosing McKusick-Kaufman Syndrome in patients with symptoms like polydactyly and heart defects, aiding in genetic counseling and family planning."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume

Understanding Your Results

Results indicate the presence or absence of mutations in the MKKS gene.
📊

Pathogenic variant detected

Confirms diagnosis of McKusick-Kaufman Syndrome

📊

No pathogenic variant

MKS unlikely, but clinical correlation needed

⚠️ When to Consult a Doctor:

If symptoms of MKS are present or family history suggests risk.

Limitations

  • ⚠May not detect all mutations
  • ⚠Requires genetic counseling for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Genetic discrimination concerns

Interfering Factors

  • ●Contaminated sample
  • ●Degraded DNA

Frequently Asked Questions

What is McKusick-Kaufman Syndrome?
McKusick-Kaufman Syndrome (MKS) is a rare genetic disorder causing multiple congenital anomalies, including polydactyly, heart defects, and genital abnormalities.
What causes MKS?
MKS is caused by mutations in the MKKS gene and is inherited in an autosomal recessive pattern.
What are the symptoms of MKS?
Symptoms include polydactyly, heart defects, genital abnormalities, kidney abnormalities, and limb abnormalities, varying in severity.
How is MKS diagnosed?
Diagnosis involves clinical examination and genetic testing, such as the MKKS Gene NGS Genetic Test, to confirm mutations.
What is the MKKS Gene NGS Genetic Test?
It is a Next-Generation Sequencing test that analyzes the MKKS gene to identify mutations associated with McKusick-Kaufman Syndrome.
How is the test performed?
The test requires a blood sample or extracted DNA, which is sequenced using NGS technology to detect genetic variants.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get results?
Results are typically available in 3-4 weeks after sample collection.
What is the cost of the test?
The test costs INR 20,000, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
What do the test results mean?
Results indicate if pathogenic variants in the MKKS gene are detected, confirming MKS, or if no variants are found, suggesting MKS is unlikely.
Who should consider this test?
Individuals with symptoms of MKS, family history of the syndrome, or those seeking genetic diagnosis for congenital anomalies should consider this test.
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.

Related Tests

Ganciclovir Resistance Detection Test

₹8,986

Biotinidase Newborn Screen Test

₹807

Chromosome XON Microarray High Resolution Test

₹31,590

Cystic Fibrosis Mutation Detection Test

₹12,000

CYP2C19 Genotyping Test

₹10,500

G6PD Gene Mutation Detection Test

₹7,500
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.