KMT2D Gene Kabuki Syndrome Type 1 NGS Genetic DNA Test
Introduction
The KMT2D Gene Kabuki Syndrome Type 1 NGS Genetic DNA Test is a cutting-edge diagnostic tool that utilizes Next Generation Sequencing (NGS) technology to analyze genetic material. This test is pivotal for identifying mutations in the KMT2D gene, which are associated with Kabuki Syndrome, a condition characterized by distinctive facial features, growth delays, and various health challenges.
What the Test Measures
This genetic test specifically detects alterations in the KMT2D gene. By examining the DNA, healthcare professionals can determine if a patient has mutations that could lead to Kabuki Syndrome, enabling early intervention and management of associated symptoms.
Who Should Consider This Test
Individuals exhibiting symptoms such as:
- Distinctive facial features
- Growth delays
- Intellectual disability
- Cardiac defects
are encouraged to consider this test. Additionally, family members of individuals diagnosed with Kabuki Syndrome may also benefit from testing to understand their genetic risks.
Benefits of Taking the Test
- Provides clarity on genetic conditions affecting the patient.
- Enables personalized treatment plans based on genetic findings.
- Helps in family planning by identifying potential genetic risks.
- Facilitates access to specialized care and support services.
Understanding Your Results
Results from the KMT2D Gene Kabuki Syndrome Type 1 NGS Genetic DNA Test will be provided in a comprehensive report. It is essential to discuss these results with a healthcare provider or genetic counselor, who can help interpret the findings and recommend further steps.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| KMT2D Gene Kabuki Syndrome Type 1 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the KMT2D Gene Kabuki Syndrome Type 1 NGS Genetic DNA Test, please contact us at +2348077798758. Our team is here to assist you with scheduling your appointment and providing any additional information you may need.
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 who is undergoing the test is required, along with a genetic counselling session to draw a pedigree chart of family members affected by the KMT2D gene.
This test falls under the Pediatrics specialty, within the Genetics department, and is essential for diagnosing Dysmorphology-related conditions.
