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MKKS Gene McKusick-Kaufman syndrome NGS Genetic Test

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MKKS Gene McKusick-Kaufman syndrome NGS Genetic Test

Short Name: MKKS Gene NGS Test

Also known as: McKusick-Kaufman Syndrome, MKKS 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 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 3, 2026

Overview

The purpose of the MKKS Gene NGS Genetic Test is to diagnose McKusick-Kaufman Syndrome by detecting mutations in the MKKS gene using next-generation sequencing technology. This helps in confirming clinical suspicion, guiding treatment decisions, and providing genetic counseling for affected families.

Test Code
5449
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)
Step 1

Sample Collection

Clinical history of the patient who is going for MKKS Gene McKusick-Kaufman syndrome NGS Genetic Test. A genetic counseling session to draw a pedigree chart of family members affected with MKKS gene.

Method: Venipuncture or FTA card

Step 2

Laboratory Analysis

Blood sample collection via venipuncture or using an FTA card for one drop of blood.

Step 3

Report Delivery

Sample is processed in the laboratory for DNA extraction and NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, family history, and obtain informed consent.
2
During the Test:Sample collection (blood or DNA) is performed with minimal discomfort.
3
After the Test:Results are reviewed by a geneticist, and a report is generated with recommendations for follow-up.

About This Test

Who Should Get This Test

The purpose of the MKKS Gene NGS Genetic Test is to diagnose McKusick-Kaufman Syndrome by detecting mutations in the MKKS gene using next-generation sequencing technology. This helps in confirming clinical suspicion, guiding treatment decisions, and providing genetic counseling for affected families.

How to Prepare

  • Ensure proper identification and labeling of the sample.
  • For blood samples, use standard venipuncture techniques.
  • For FTA cards, apply one drop of blood and allow it to dry.
  • Store and transport samples at ambient room temperature.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"As a physician specializing in obstetrics and gynecology, I recommend genetic testing for MKKS in families with a history of congenital anomalies to guide reproductive decisions and early intervention."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA card

Sample Stability

Blood samples: Stable for 7 days at room temperature.
Extracted DNA: Stable for longer periods if stored properly.
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed samples
  • Improperly labeled samples

Understanding Your Results

Results of the MKKS Gene NGS Genetic Test are interpreted by clinical geneticists to identify pathogenic mutations in the MKKS gene, aiding in the diagnosis of McKusick-Kaufman Syndrome.
Negative Result: No pathogenic variants detected in the MKKS gene. This reduces the likelihood of MKKS but does not rule it out entirely if clinical suspicion remains high.
Positive Result: Pathogenic variant(s) identified, confirming a diagnosis of McKusick-Kaufman Syndrome. This information is crucial for medical management and genetic counseling.
Variant of Uncertain Significance (VUS): A genetic variant is detected, but its clinical significance is unknown. Further testing, family studies, or clinical correlation may be needed.
⚠️ When to Consult a Doctor:

If you or a family member exhibit symptoms such as heart defects, extra fingers or toes, or genital abnormalities, or if there is a known family history of McKusick-Kaufman Syndrome, consult a healthcare provider to discuss the benefits of genetic testing.

Limitations

  • ⚠This test may not detect all types of mutations, such as large deletions or duplications.
  • ⚠Results should be interpreted in conjunction with clinical findings and family history.
  • ⚠Variants of uncertain significance (VUS) may be identified, requiring further evaluation.

Risks & Considerations

  • ●Psychological impact of genetic results, such as anxiety or stress.
  • ●Potential for incidental findings unrelated to MKKS.
  • ●Risk of misinterpretation without proper genetic counseling.

Frequently Asked Questions

What is McKusick-Kaufman Syndrome?
McKusick-Kaufman Syndrome (MKKS) is a rare genetic disorder caused by mutations in the MKKS gene, leading to symptoms such as heart defects, polydactyly, and genital abnormalities.
What causes MKKS?
MKKS is caused by mutations in the MKKS gene, which is inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the mutated gene.
How is MKKS diagnosed?
Diagnosis is primarily through genetic testing, specifically Next-Generation Sequencing (NGS) of the MKKS gene to identify pathogenic mutations.
What is the cost of the MKKS Gene NGS Genetic Test?
The cost of the MKKS Gene NGS Genetic Test at DNA Labs India is INR 20000, with home sample collection available at no extra charge.
What samples are required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
What are the symptoms of MKKS?
Symptoms may include congenital heart defects, polydactyly (extra fingers or toes), and genital abnormalities, which can vary in severity.
Can MKKS be treated?
There is no cure for MKKS, but symptoms can be managed with medical interventions such as surgery for heart defects or polydactyly, and supportive care.
Is genetic testing for MKKS covered by insurance?
Coverage depends on the insurance provider and policy. It is advisable to check with your insurer, as genetic testing may not be routinely covered.
What is the accuracy of NGS for MKKS?
NGS is highly accurate for detecting mutations in the MKKS gene, but no test is 100% sensitive. Results should be interpreted in clinical context.
How can I book the test?
You can book the MKKS Gene NGS Genetic Test online through the DNA Labs India website or by contacting their customer service for assistance.
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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