HDAC8 Gene Cornelia de Lange Syndrome Type 5 NGS Genetic DNA Test
Introduction to the Test
The HDAC8 Gene Cornelia de Lange Syndrome Type 5 NGS Genetic DNA Test is designed to identify mutations in the HDAC8 gene, which are associated with Cornelia de Lange syndrome (CdLS). This genetic disorder is characterized by a range of developmental and physical anomalies. Understanding the genetic basis of this condition is crucial for early diagnosis and management.
What the Test Measures
This test employs Next Generation Sequencing (NGS) technology to detect specific mutations in the HDAC8 gene. By analyzing the genetic material, healthcare providers can determine if a patient has a genetic predisposition to Cornelia de Lange syndrome Type 5.
Who Should Consider This Test
This test is recommended for individuals who exhibit symptoms of Cornelia de Lange syndrome, such as:
- Growth retardation
- Distinctive facial features
- Intellectual disability
- Limbs and organ malformations
Patients with a family history of CdLS or those who have risk factors for genetic disorders should also consider this test.
Benefits of Taking the Test
Undergoing the HDAC8 Gene Cornelia de Lange Syndrome Type 5 NGS Genetic DNA Test offers several benefits:
- Early diagnosis allows for timely intervention and management.
- Provides clarity for families regarding the genetic nature of the condition.
- Helps in planning for future pregnancies and understanding inheritance patterns.
- Facilitates access to support services and resources for affected individuals.
Understanding Your Results
Results from this test will indicate whether a mutation in the HDAC8 gene is present. A positive result confirms the presence of the genetic disorder, while a negative result suggests that the individual does not carry the mutation. It is important to discuss the results with a genetic counselor to understand the implications fully.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| HDAC8 Gene Cornelia de Lange Syndrome Type 5 NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Booking Your Test
The HDAC8 Gene Cornelia de Lange Syndrome Type 5 NGS Genetic DNA Test can be conducted at any of our branches across Kenya. We also offer home sample collection services for your convenience. To book your test, please call or WhatsApp us at +254746849631.
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 is required, along with a genetic counseling session to draw a pedigree chart of family members affected.
For further inquiries or to schedule your test, do not hesitate to reach out. Your health is our priority!
