KDM6A Gene Kabuki Syndrome Type 2 NGS Genetic DNA Test
Introduction to the Test
The KDM6A Gene Kabuki Syndrome Type 2 NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the KDM6A gene, which are associated with Kabuki syndrome, a rare genetic disorder characterized by developmental delays, distinctive facial features, and neurological disorders. This test employs Next Generation Sequencing (NGS) technology to provide accurate and comprehensive genetic analysis.
What the Test Measures
This genetic test specifically measures alterations in the KDM6A gene. By analyzing the DNA from a blood sample or extracted DNA, the test can detect pathogenic variants that may contribute to the clinical features of Kabuki syndrome.
Who Should Consider This Test
Individuals who exhibit symptoms such as developmental delays, distinctive facial features, or have a family history of Kabuki syndrome should consider this test. Additionally, those with risk factors for neurological disorders may benefit from genetic counseling and testing.
Benefits of Taking the Test
- Provides clarity on genetic conditions affecting the patient.
- Assists in making informed decisions regarding treatment and management.
- Aids in family planning by identifying potential genetic risks for future children.
- Offers peace of mind through understanding one’s genetic health.
Understanding Your Results
Once the test is completed, results will be provided along with guidance on interpretation. A positive result indicates the presence of mutations in the KDM6A gene, while a negative result suggests no identifiable mutations. It is crucial to discuss results with a healthcare provider for proper context and implications.
Test Name and Price
| Test Name | Discount Price | Regular Price |
|---|---|---|
| KDM6A Gene Kabuki Syndrome Type 2 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book the Test
To book the KDM6A Gene Kabuki Syndrome Type 2 NGS Genetic DNA Test, please contact us today at +2348077798758 via call or WhatsApp. Our team is ready to assist you in your journey towards understanding your genetic health.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: A clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with KDM6A Gene Kabuki syndrome type 2 are required.
Consult with a neurologist or geneticist for further understanding and guidance regarding this test.
