MKKS Gene McKusick-Kaufman syndrome NGS Genetic Test
Short Name: MKKS Gene Test
Also known as: MKKS Syndrome, McKusick-Kaufman Syndrome
MKKS Gene McKusick-Kaufman syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To diagnose McKusick-Kaufman Syndrome by identifying mutations in the MKKS gene using NGS technology.
- Test Code
- 2439
- 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
- NGS Technology
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with McKusick-Kaufman Syndrome.
Laboratory Analysis
Your sample is analyzed using NGS Technology in our laboratory.
Report Delivery
A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.
Timeline: 3 to 4 Weeks
Patient Instructions
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
- Blood sample collection by venipuncture.
- Alternatively, extracted DNA or one drop blood on FTA card can be used.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of McKusick-Kaufman Syndrome. Genetic counseling recommended.
No pathogenic variant detected
McKusick-Kaufman Syndrome unlikely based on this gene. Consider other genetic tests if symptoms persist.
Variant of uncertain significance
Further testing or family studies may be required for clarification.
When symptoms such as polydactyly, genital abnormalities, or heart defects are present, or if there is a family history of McKusick-Kaufman Syndrome.
Frequently Asked Questions
What is McKusick-Kaufman Syndrome?
What causes McKusick-Kaufman Syndrome?
What are the symptoms of McKusick-Kaufman Syndrome?
How is McKusick-Kaufman Syndrome diagnosed?
What is the MKKS Gene NGS Genetic Test?
What is the cost of the test?
Is home sample collection available?
How long does it take to get the report?
What does a positive result mean?
What does a negative result mean?
Can the test be done for prenatal diagnosis?
Is genetic counseling provided?
Related Tests
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.
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.
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