COL4A1 Gene Porencephaly Familial NGS Genetic DNA Test
The COL4A1 Gene Porencephaly Familial NGS Genetic DNA Test is a cutting-edge diagnostic tool that utilizes Next Generation Sequencing (NGS) technology to analyze the COL4A1 gene. This gene is crucial in the development of the brain and its abnormalities can lead to serious conditions, including porencephaly, a rare disorder characterized by cystic cavities in the brain. Understanding the genetic basis of these conditions is vital for effective management and treatment.
What the Test Measures
This test specifically detects mutations in the COL4A1 gene. By identifying these mutations, healthcare providers can better understand the genetic factors contributing to porencephaly in affected individuals.
Who Should Consider This Test
Individuals and families with a history of porencephaly or related dysmorphology symptoms should consider this test. Symptoms may include:
- Developmental delays
- Neurological issues
- Physical abnormalities
Additionally, those with a family history of COL4A1 mutations or unexplained neurological symptoms are encouraged to seek this test.
Benefits of Taking the Test
- Provides clarity on genetic risks for family members.
- Assists in making informed decisions regarding family planning.
- Guides treatment options and management strategies for affected individuals.
- Enables access to genetic counseling and support resources.
Understanding Your Results
Results from the COL4A1 Gene Porencephaly Familial NGS Genetic DNA Test will provide insight into the presence of mutations. A positive result indicates a mutation that may contribute to the condition, while a negative result suggests that the tested individual does not have detectable mutations in the COL4A1 gene. It is essential to discuss the results with a genetic counselor or healthcare provider for a comprehensive understanding.
Test Name and Pricing
| Price Type | Price (KSh) |
|---|---|
| Discount Price | 40,000 |
| Regular Price | 56,000 |
Sample Collection and Instructions
The sample required for this test can be:
- Blood
- Extracted DNA
- One drop of blood on FTA Card
Before the test, it is recommended to have a genetic counseling session to create a pedigree chart of family members affected by the COL4A1 mutation.
Locations and Booking
DNA Labs Kenya has branches across all major cities in Kenya, making it convenient for you to access our services. We also offer home sample collection services for your convenience.
To book your test today, call or WhatsApp us at +254711564616. Don’t wait for answers—take the first step towards understanding your genetic health!
