KMT2D Gene Kabuki syndrome type 1 NGS Genetic Test
Short Name: KMT2D Kabuki NGS
Also known as: Kabuki Syndrome Gene Test, KMT2D Mutation Analysis, NGS Genetic Test for Kabuki Syndrome
KMT2D Gene Kabuki syndrome type 1 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic mutations in the KMT2D gene that cause Kabuki syndrome type 1. It is indicated for individuals with clinical features suggestive of Kabuki syndrome, such as characteristic facial dysmorphism, developmental delay, intellectual disability, and congenital anomalies. Genetic confirmation helps in establishing a definitive diagnosis, enabling appropriate medical surveillance, early intervention, and genetic counseling for the family.
- Test Code
- 5807
- 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 clinical history and genetic counseling session is recommended before the test.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No specific aftercare is needed. You can resume normal activities immediately.
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 mutations in the KMT2D gene that cause Kabuki syndrome type 1. It is indicated for individuals with clinical features suggestive of Kabuki syndrome, such as characteristic facial dysmorphism, developmental delay, intellectual disability, and congenital anomalies. Genetic confirmation helps in establishing a definitive diagnosis, enabling appropriate medical surveillance, early intervention, and genetic counseling for the family.
How to Prepare
- Ensure the patient's clinical history and pedigree chart are provided.
- Use EDTA vacutainer for blood collection; mix gently to prevent clotting.
- If using FTA card, apply one drop of blood to the designated circle and air dry.
- Label the sample with patient's name, date of birth, and collection date.
- Transport the sample to the laboratory at ambient temperature.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Kabuki syndrome type 1 often presents with characteristic facial features and developmental delays. Early genetic confirmation is crucial for appropriate management and family counseling."
Last medically reviewed: September 7, 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
Positive (Pathogenic variant detected)
Confirms the diagnosis of Kabuki syndrome type 1. Genetic counseling is recommended for the family.
Action: Initiate appropriate medical management and surveillance.
Negative (No pathogenic variant)
No mutation found in KMT2D gene. Kabuki syndrome type 1 is less likely, but other genetic causes may be considered.
Action: Consider testing for KDM6A gene or other differential diagnoses.
Variant of Uncertain Significance (VUS)
A genetic variant was found, but its clinical significance is unknown.
Action: Further family segregation studies or functional assays may be needed.
If your child has been diagnosed with Kabuki syndrome type 1 or has symptoms suggestive of the condition, consult a pediatrician or clinical geneticist for comprehensive management and genetic counseling.
Limitations
- ⚠This test detects mutations in the KMT2D gene only; mutations in other genes (e.g., KDM6A) causing Kabuki syndrome type 2 will not be identified.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variants of uncertain significance may require further family studies.
- ⚠Negative result does not completely rule out Kabuki syndrome if clinical suspicion is high; other genetic causes may exist.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●No significant medical risks associated with the test
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Presence of maternal cell contamination in prenatal samples
- ●Incomplete coverage of certain gene regions due to technical limitations
Compare With Similar Tests
| Test | KMT2D Gene Kabuki syndrome type 1 NGS Genetic Test | KMT2D Gene Sequencing (Sanger) | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | KMT2D Gene Kabuki syndrome type 1 NGS Genetic Test |
Frequently Asked Questions
What is Kabuki syndrome type 1?
How is the KMT2D gene test performed?
What is the cost of the KMT2D gene test in India?
How long does it take to get the results?
Is fasting required for this test?
What sample types are accepted?
Can this test detect all types of Kabuki syndrome?
Is home sample collection available?
What is the turnaround time for reports?
Will insurance cover this test?
What does a positive result mean?
What should I do if the result is negative?
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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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