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DNA Labs India

KAT6B Gene Genitopatellar syndrome NGS Genetic Test

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KAT6B Gene Genitopatellar syndrome NGS Genetic Test

Short Name: KAT6B Gene Test

KAT6B Gene Genitopatellar 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.

PediatricsPediatric🏠 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 detect mutations in the KAT6B gene to confirm a diagnosis of Genitopatellar syndrome, aiding in clinical management, genetic counseling, and family planning.

Test Code
2733
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
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Genitopatellar syndrome.

Method: Blood draw or FTA card

Step 2

Laboratory Analysis

Your sample is analyzed using NGS Technology in our laboratory.

Step 3

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

1
Before the Test:Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Genitopatellar syndrome.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the KAT6B gene to confirm a diagnosis of Genitopatellar syndrome, aiding in clinical management, genetic counseling, and family planning.

How to Prepare

  • Collect blood sample in an EDTA tube or use FTA card for one drop of blood.
  • Ensure proper labeling and handling of the sample.

Doctor's Notes

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

"Early genetic diagnosis through NGS testing is essential for managing Genitopatellar syndrome, enabling timely interventions and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the KAT6B gene. A positive result confirms a genetic basis for symptoms, while a negative result may require further investigation.
📊

Positive

Pathogenic variant detected in KAT6B gene, consistent with Genitopatellar syndrome.

📊

Negative

No pathogenic variants detected; symptoms may be due to other causes.

📊

Variant of uncertain significance

Genetic variant found but clinical significance is unclear; further testing or counseling recommended.

⚠️ When to Consult a Doctor:

Consult a genetic specialist if symptoms of Genitopatellar syndrome are present, or if there is a family history of the disorder, for appropriate testing and management.

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection.
  • ●Potential psychological impact of genetic results; counseling is recommended.

Frequently Asked Questions

What is Genitopatellar syndrome?
Genitopatellar syndrome is a rare genetic disorder affecting the development of knees, pelvis, and genitalia, caused by mutations in the KAT6B gene.
What causes Genitopatellar syndrome?
It is caused by mutations in the KAT6B gene, which plays a crucial role in embryonic development.
What are the common symptoms?
Symptoms include abnormal kneecaps, hip bones, genitalia, delayed motor skills, intellectual disability, and speech delays.
How is Genitopatellar syndrome diagnosed?
Diagnosis is confirmed through genetic testing, such as NGS sequencing of the KAT6B gene, along with clinical evaluation.
What is the KAT6B gene?
The KAT6B gene encodes a protein involved in chromatin modification and gene regulation, essential for normal development.
What is NGS genetic testing?
Next-Generation Sequencing (NGS) is a high-throughput technology that sequences DNA to detect genetic mutations with high accuracy.
How accurate is the KAT6B gene test?
The NGS test offered by DNA Labs India has a high degree of accuracy for detecting mutations in the KAT6B gene.
What is the cost of the test?
The test costs INR 20,000, which includes sample collection, analysis, and a comprehensive report.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do if the test is positive?
A positive result indicates a genetic mutation; consult a genetic counselor or specialist for management and family planning advice.
Is genetic counseling recommended?
Yes, genetic counseling is recommended before and after testing to understand the implications and provide support.
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

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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