Skip to main content
DNA Labs India

KDM6A Gene Kabuki syndrome type 2 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

KDM6A Gene Kabuki syndrome type 2 NGS Genetic Test

Short Name: KDM6A Gene NGS Test

Also known as: Kabuki Syndrome Type 2 Genetic Test, KDM6A Gene Mutation Test, KDM6A Next Generation Sequencing, Kabuki Syndrome Type 2 NGS Panel

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 issued within 3 to 4 weeks of the sample reaching the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 confirm or exclude disease-causing mutations in the KDM6A gene in individuals showing clinical features of Kabuki syndrome type 2. Genetic confirmation supports clinical management, helps assess associated health risks, and enables family members to understand recurrence risks.

Test Code
4160
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
Reports are issued within 3 to 4 weeks of the sample reaching the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting or special preparation is needed. Please bring a valid doctor’s prescription, clinical summary, and relevant family history. A genetic counseling session is included and should be completed to draw a pedigree and explain the test.

Method: Peripheral blood draw / Dried blood spot

Step 2

Laboratory Analysis

A small blood sample is collected in an EDTA tube. If using an FTA card, one drop of blood is placed on the card and allowed to air-dry.

Step 3

Report Delivery

The sample is transported to the genetics laboratory under standard conditions. After sequencing, the clinical report and raw data files are shared within 3 to 4 weeks.

Timeline: Reports are issued within 3 to 4 weeks of the sample reaching the laboratory.

Patient Instructions

1
Before the Test:No special preparation is required. Pre-test genetic counseling is recommended to discuss the purpose, limitations, and possible results of the test before the sample is collected.
2
During the Test:The test involves a simple blood sample collection or dried blood spot on FTA card. For the included genetic counseling session, a pedigree chart and detailed family history will be discussed.
3
After the Test:After the test, the laboratory will process the sample. The referring physician and genetic counselor will explain the clinical report, raw data files, and implications of the result. Genetic counseling is available after the report is delivered.

About This Test

Who Should Get This Test

The purpose of this test is to confirm or exclude disease-causing mutations in the KDM6A gene in individuals showing clinical features of Kabuki syndrome type 2. Genetic confirmation supports clinical management, helps assess associated health risks, and enables family members to understand recurrence risks.

How to Prepare

  • For FTA card samples, ensure the blood spot is completely dry before storing.
  • Label the sample clearly with patient name, date of birth, and unique identification number.
  • Inform the laboratory if the patient has had a recent blood transfusion or bone marrow transplant.

Doctor's Notes

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

"KDM6A-related Kabuki syndrome testing should be offered alongside formal genetic counselling, especially when reproductive planning is being discussed."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One Drop Blood on FTA Card
Sample VolumeNot applicable/As required for FTA spot
ContainerEDTA vacutainer / DNA vial / FTA card
Collection MethodPeripheral blood draw / Dried blood spot

Sample Stability

Whole blood in EDTA: 48-72 hours at 2-8°C
Extracted DNA: stable for months at -20°C
FTA card blood spot: stable at ambient temperature for several days
Sample Rejection Criteria:
  • Missing or mismatched patient identification
  • Clotted blood sample collected in EDTA tube
  • Hemolyzed or leaking sample
  • Insufficient blood volume or unreadable FTA card spots

Understanding Your Results

The NGS genetic test analyzes the KDM6A gene and reports variants according to standard classification guidelines. Results must be interpreted by a clinical geneticist in the context of the patient’s clinical features and family history.
📊

Pathogenic or likely pathogenic variant in KDM6A

Consistent with the diagnosis of Kabuki syndrome type 2

📊

Variant of uncertain significance (VUS)

Does not confirm or exclude the diagnosis; parental segregation and further clinical correlation are needed

📊

No disease-causing variant detected

Does not exclude Kabuki syndrome type 2; other genetic causes should be considered

⚠️ When to Consult a Doctor:

People with unexplained developmental delay, intellectual disability, congenital heart defects, cleft palate, short stature, seizures, or typical facial features of Kabuki syndrome should consult a clinical geneticist for evaluation and pre-test counseling before undergoing genetic testing.

Limitations

  • ⚠NGS may not detect large deletions, duplications, deep intronic variants, or structural rearrangements without additional testing
  • ⚠A negative result does not exclude Kabuki syndrome type 2 if clinical suspicion remains high
  • ⚠A variant of uncertain significance does not confirm or rule out the diagnosis
  • ⚠Mosaic variants below the assay detection limit may not be identified

Risks & Considerations

  • ●Minimal risks from blood draw including bruising, bleeding, or infection
  • ●Psychological stress related to genetic results or uncertainty

Interfering Factors

  • ●Poor quality or degraded DNA sample
  • ●Incorrect sample labelling
  • ●Contamination during sample collection
  • ●Low-level mosaicism for the KDM6A variant
  • ●Variant of uncertain significance requiring additional family studies

Compare With Similar Tests

TestKDM6A Gene Kabuki syndrome type 2 NGS Genetic TestKDM6A Gene NGS TestWhole Exome SequencingChromosomal Microarray
ComparisonKDM6A Gene Kabuki syndrome type 2 NGS Genetic Test

Frequently Asked Questions

What is Kabuki syndrome type 2?
Kabuki syndrome type 2 is a rare genetic disorder caused by mutations in the KDM6A gene. It affects multiple body systems and is characterized by distinctive facial features, developmental delay, intellectual disability, heart defects, short stature, cleft palate, and other congenital anomalies.
What does the KDM6A NGS genetic test detect?
The test detects pathogenic or likely pathogenic variants in the coding regions and splice-site regions of the KDM6A gene using next-generation sequencing technology.
What sample is required for this test?
The test can be done on a blood sample, extracted DNA, or one drop of blood on an FTA card.
What is the cost of the KDM6A gene Kabuki syndrome type 2 NGS test?
The test cost is Rs 20000.0 (INR 20,000), which includes genetic counseling and free home sample collection in eligible cities.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
How long does the KDM6A NGS genetic test take?
The test report is generally delivered within 3 to 4 weeks from the time the sample reaches the laboratory.
Who should get tested for Kabuki syndrome type 2?
People with clinical features such as characteristic facial appearance, developmental delay, intellectual disability, cleft palate, heart defects, short stature, seizures, or a family history suggestive of Kabuki syndrome should be evaluated for genetic testing.
Can this test be done in children and infants?
Yes, this genetic test can be performed at any age, including newborns and children, when there is clinical suspicion of Kabuki syndrome type 2.
Why is genetic counseling included with this test?
Genetic counseling helps patients and families understand the test purpose, possible results, inheritance pattern, recurrence risk, and medical implications of a confirmed KDM6A mutation.
Will I receive raw data files with my test report?
Yes, DNA Labs India shares raw data files, FASTQ files, and VCF files along with the clinical report for transparency and possible secondary analysis.
What does a negative KDM6A test result mean?
A negative result means no disease-causing variant was detected in the KDM6A gene. It does not completely rule out Kabuki syndrome type 2; a clinical geneticist may recommend additional tests such as whole exome sequencing or chromosomal microarray.
What are the limitations of this NGS genetic test?
The test may not detect large deletions or duplications, deep intronic variants, structural rearrangements, or low-level mosaicism. Variants of uncertain significance may require additional family studies and clinical interpretation.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.