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KAT6A Gene Mental retardation, autosomal dominant type 32 NGS Genetic Test

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KAT6A Gene Mental retardation, autosomal dominant type 32 NGS Genetic Test

Short Name: KAT6A NGS Genetic Test

Also known as: KAT6A gene sequencing, Autosomal dominant mental retardation type 32 genetic test, KAT6A-related intellectual disability NGS test

KAT6A Gene Mental retardation, autosomal dominant type 32 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 will be issued in 3 to 4 weeks after the laboratory receives the sample.. Free home collection in 300+ cities across India.

NGS Genetic TestPaediatric and adult🏠 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 NGS genetic test is to identify a pathogenic or likely pathogenic variant in the KAT6A gene, which supports or confirms a clinical diagnosis of autosomal dominant mental retardation type 32. It also helps in genetic counselling, recurrence-risk assessment and family member testing.

Test Code
4248
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports will be issued in 3 to 4 weeks after the laboratory receives the sample.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting or special preparation is required. A detailed clinical history, genetic counselling and informed consent are recommended before testing. The referring doctor should document the patient's developmental history, neurological findings and family pedigree.

Method: Venipuncture or dried blood spot on FTA card or DNA submission

Step 2

Laboratory Analysis

During sample collection, a small amount of blood is drawn by a trained phlebotomist, or a dried blood spot is prepared on an FTA card. For extracted DNA, the sample tube is submitted at the collection centre. The procedure is quick and does not require sedation.

Step 3

Report Delivery

After collection, the sample is transported at room temperature or as instructed by the laboratory. You may return to normal activities immediately. The laboratory will send the report to the referring physician once results are ready.

Timeline: Reports will be issued in 3 to 4 weeks after the laboratory receives the sample.

Patient Instructions

1
Before the Test:Before the test, the referring doctor should discuss the reason for testing, expected results and limitations. A genetic counselling session is included to document the family history and obtain informed consent.
2
During the Test:During sample collection, a small amount of blood is drawn by a trained phlebotomist, or a dried blood spot is prepared on an FTA card. For extracted DNA, the sample tube is submitted at the collection centre. The procedure is quick and does not require sedation.
3
After the Test:After collection, the sample is transported at room temperature or as instructed. You may return to normal activities immediately. The laboratory will send the report to your referring physician once results are ready.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify a pathogenic or likely pathogenic variant in the KAT6A gene, which supports or confirms a clinical diagnosis of autosomal dominant mental retardation type 32. It also helps in genetic counselling, recurrence-risk assessment and family member testing.

How to Prepare

  • Please carry any previous genetic test reports, if available
  • A valid doctor's referral is recommended
  • Ensure the sample is labelled with the patient's full name and date of birth
  • Sample should be transported at ambient room temperature unless stated otherwise

Doctor's Notes

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

"This test is best interpreted in the context of a complete clinical evaluation. The referring doctor should document the developmental phenotype, obtain a three-generation pedigree, and counsel the family about possible outcomes before testing."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL venous blood; or 1 FTA blood spot; or extracted DNA as required
ContainerEDTA vacutainer / sterile DNA tube / FTA card
Collection MethodVenipuncture or dried blood spot on FTA card or DNA submission

Sample Stability

Whole blood in EDTA
Extracted DNA
FTA card blood spot
Sample Rejection Criteria:
  • Clotted EDTA blood sample
  • Grossly haemolysed or contaminated sample
  • Inadequate sample volume or insufficient DNA quantity
  • Mislabelled sample or missing patient identification

Understanding Your Results

The clinical report will be reviewed by a clinical geneticist. Variants are classified using international standards. Interpretation must always be combined with clinical findings and family history.
📊

Positive - Pathogenic/likely pathogenic variant detected

The result is consistent with a clinical diagnosis of KAT6A-related mental retardation type 32. Genetic counselling and family testing should be offered.

📊

Negative - No pathogenic/likely pathogenic variant detected

A mutation in KAT6A was not identified by this NGS test. This does not exclude all genetic causes; further testing may be considered depending on the clinical picture.

📊

Variant of Uncertain Significance (VUS)

The clinical significance is unclear. Segregation testing in family members, additional laboratory evidence, or future reclassification may be helpful.

⚠️ When to Consult a Doctor:

Consult a doctor or clinical geneticist if you or a family member has developmental delay, intellectual disability, speech delay, seizures, or behaviour problems, especially when a genetic cause is suspected.

Limitations

  • ⚠NGS may not detect all types of genetic variations such as large copy-number changes, repeat expansions, deep intronic variants or mitochondrial variants
  • ⚠A negative result does not exclude all genetic causes of intellectual disability
  • ⚠A variant of uncertain significance may require additional family segregation studies
  • ⚠Variant classification may change over time as new evidence becomes available

Risks & Considerations

  • ●No significant physical risk beyond routine blood collection
  • ●Possible temporary bruising at the venipuncture site
  • ●Genetic testing can have psychological and family implications

Interfering Factors

  • ●Contamination during sample collection or processing
  • ●Significant DNA degradation or insufficient DNA quantity
  • ●Prior allogeneic haematopoietic stem cell transplantation may affect the result
  • ●Large deletions, repeat expansions, deep intronic variants or structural rearrangements may not be detected by standard NGS

Compare With Similar Tests

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ComparisonKAT6A Gene Mental retardation, autosomal dominant type 32 NGS Genetic Test

Frequently Asked Questions

What is KAT6A gene-related mental retardation?
KAT6A gene-related mental retardation, also called autosomal dominant mental retardation type 32, is a rare inherited condition caused by pathogenic variants in the KAT6A gene. It is associated with developmental delay, intellectual disability, speech/language delay, behavioural issues and seizures. Clinical features vary between individuals.
What are the common symptoms of KAT6A gene mental retardation?
Common symptoms include motor, language and social developmental delays, intellectual disability ranging from mild to severe, speech and language problems, behavioural problems such as hyperactivity or aggression, and seizures. Not every affected individual has all symptoms.
What does the KAT6A NGS genetic test detect?
This test uses next-generation sequencing to analyse the KAT6A gene for pathogenic or likely pathogenic sequence variants, including small insertions/deletions and splice-site variants. It is designed to help confirm a clinical diagnosis of KAT6A-related disorder.
Do I need to fast before the KAT6A NGS test?
No fasting is required. The test can be done at any time of the day.
What sample is needed for the KAT6A NGS test?
The sample can be venous blood, extracted DNA, or one drop of blood on an FTA card. The appropriate sample type should be confirmed with the laboratory.
How long will the KAT6A NGS test reports take?
Reports are generally available in 3 to 4 weeks after the laboratory receives the sample.
What is the cost of the KAT6A NGS genetic test in India?
The price of the KAT6A NGS genetic test is Rs 20000 in India. DNA Labs India also provides free home sample collection for online bookings.
Is home sample collection available for this test?
Yes, free home sample collection is offered for patients in many cities across India, including major metro cities. Please confirm availability when booking.
Who should order this test?
This test should be ordered by a neurologist, paediatrician, clinical geneticist or another qualified doctor after clinical evaluation and genetic counselling. It is not recommended as a self-ordered screening test.
Can a negative result rule out all genetic causes of intellectual disability?
No. A negative KAT6A NGS result means no clinically significant KAT6A variant was detected, but it does not exclude other genetic causes. Further genetic tests may be needed depending on the clinical picture.
What does a variant of uncertain significance mean?
A variant of uncertain significance is a DNA change whose effect on health is not yet known. The laboratory will report it when there is insufficient evidence to classify it as pathogenic or benign. Additional family studies and clinical correlation are often required.
Will insurance cover this genetic test?
Coverage varies. Government schemes such as PMJAY/CGHS/ECHS/ESIC may or may not cover genetic testing, and private insurance depends on the individual policy. Please check with your insurer.
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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