• How long does it take to get the genetic sequencing results?

Due to the complexity of genetic analysis, results typically take between 2 to 4 weeks.

• Can the test determine the severity of the syndrome's symptoms?

The test confirms the genetic mutation, but symptom severity varies and cannot be precisely predicted by genetics alone.

Book KDM6A Gene Test | Lahalak Medical Platform

Lahalak Medical PlatformDifferentiate Care

Medical notice: this information is for education and service understanding. It is not a diagnosis or a recommendation for an unnecessary procedure.

About this service

DNA sequence analysis of the KDM6A gene's coding regions. It is used to diagnose Kabuki syndrome type 2 by identifying genetic mutations with high precision in a laboratory or home setting.

Clinical Significance

Confirming the diagnosis of Kabuki Syndrome Type 2.
Identifying causative mutations in the KDM6A gene.
Assisting families with genetic counseling and recurrence risk assessment.

Procedure Overview

A simple blood sample is drawn from the vein.
The sample is sent to the lab for DNA extraction.
Coding regions of the KDM6A gene are sequenced with high accuracy.

When to Perform the Test?

Presence of distinctive facial features associated with the syndrome.
Unexplained developmental delay or intellectual disability.
Known family history of Kabuki syndrome.

What is included?

✓Blood sample collection
✓DNA extraction
✓Gene sequence analysis
✓Detailed genetic report

Conditions and notices

Fasting is not required
Previous medical reports are preferred if available
Fasting is not required before the test

Frequently Asked Questions

Short answers to the FAQs published with this service.

• What is the KDM6A gene and its link to Kabuki syndrome?

The KDM6A gene produces a protein that regulates gene activity; mutations in it cause Kabuki syndrome type 2.

• How is the sample collected for this genetic test?

A simple venous blood sample is collected, which can be done in the lab or via home collection services.

• Does the KDM6A gene test require fasting?

No, this genetic test does not require fasting or any specific dietary preparations.

• What is the difference between Kabuki syndrome type 1 and type 2?

Service resources and references

References and additional resources

Reference material and files associated with this service when available.

Scientific references

National Organization for Rare Disorders (NORD)
Human Gene Mutation Database (HGMD)

Precise KDM6A Kabuki Syndrome Test

About this service

Clinical Significance

Procedure Overview

When to Perform the Test?

What is included?

Conditions and notices

Frequently Asked Questions

References and additional resources

Scientific references

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