KDM6A Gene Kabuki syndrome type 2 NGS Genetic Test
Short Name: KDM6A NGS
Also known as: Kabuki Syndrome Type 2 Genetic Test, KDM6A Gene Sequencing, NGS for Kabuki Syndrome
KDM6A Gene Kabuki syndrome type 2 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 Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 3, 2026
Overview
The purpose of this test is to identify pathogenic variants in the KDM6A gene that cause Kabuki syndrome type 2. It is used to confirm a clinical diagnosis, differentiate from other genetic conditions with overlapping features, and provide information for family planning and genetic counseling.
- Test Code
- 5805
- CPT Code
- 81407
- ICD Code
- Q87.1
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No specific aftercare is needed. The sample is sent to the laboratory for processing.
Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the KDM6A gene that cause Kabuki syndrome type 2. It is used to confirm a clinical diagnosis, differentiate from other genetic conditions with overlapping features, and provide information for family planning and genetic counseling.
How to Prepare
- For blood sample: Use EDTA tube, mix gently to prevent clotting
- For FTA card: Apply one drop of blood onto the designated circle, air dry for at least 30 minutes
- Label the sample with patient's name, date of birth, and collection date
- Transport at room temperature within 24 hours
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Kabuki syndrome type 2 is a rare but clinically significant condition. Early genetic confirmation is crucial for appropriate management and family counseling. This NGS test provides a definitive molecular diagnosis."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Kabuki syndrome type 2. Genetic counseling is recommended for the family.
Variant of uncertain significance (VUS)
Further testing or family studies may be needed to clarify the significance.
No pathogenic variant detected
Does not rule out Kabuki syndrome type 2; consider other genetic causes or re-evaluation.
Consult a clinical geneticist or pediatrician if the patient exhibits features suggestive of Kabuki syndrome, such as distinctive facial features, developmental delay, or multiple congenital anomalies. Genetic testing should be considered to confirm the diagnosis.
Limitations
- ⚠This test does not detect large deletions/duplications or deep intronic variants
- ⚠Variants of uncertain significance may be reported; additional testing may be required
- ⚠Negative result does not exclude Kabuki syndrome type 2 if clinical suspicion is high; other genetic causes should be considered
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving a genetic diagnosis
- ●Potential for variants of uncertain significance causing anxiety
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Presence of maternal cell contamination in prenatal samples
- ●Incomplete clinical information may affect interpretation
Compare With Similar Tests
| Test | KDM6A Gene Kabuki syndrome type 2 NGS Genetic Test | KMT2D Gene Sequencing | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | KDM6A Gene Kabuki syndrome type 2 NGS Genetic Test |
Frequently Asked Questions
What is Kabuki syndrome type 2?
How is Kabuki syndrome type 2 diagnosed?
What is the cost of the KDM6A gene NGS test in India?
What sample is required for this test?
Is fasting required before the test?
How long does it take to get the results?
Can this test be done for children?
What does a positive result mean?
What if the result is negative?
Is genetic counseling included?
Do you offer home sample collection?
Is this test covered by insurance?
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₹20,000Reference 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.
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✓ 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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