Congenital Adrenal Hyperplasia Panel NGS Genetic DNA Test
Introduction
The Congenital Adrenal Hyperplasia Panel NGS Genetic DNA Test is a specialized genetic test that plays a crucial role in diagnosing congenital adrenal hyperplasia (CAH), a group of inherited disorders affecting the adrenal glands. These glands produce essential hormones, and any dysfunction can lead to severe health issues. This test utilizes Next Generation Sequencing (NGS) technology to identify mutations in the genes responsible for CAH, ensuring timely diagnosis and management of the condition.
What the Test Measures
This test specifically detects genetic mutations in key genes such as CYP11A1, CYP11B1, CYP17A1, CYP21A2, HSD3B2, POR, PRKAR1A, and STAR. These mutations are critical indicators of adrenal gland function and hormonal balance.
Who Should Consider This Test
Individuals who may benefit from this genetic test include:
- Newborns showing signs of adrenal insufficiency or ambiguous genitalia.
- Individuals with a family history of CAH or related endocrine disorders.
- Patients experiencing symptoms such as early puberty, abnormal menstrual cycles, or infertility.
Benefits of Taking the Test
Undergoing the Congenital Adrenal Hyperplasia Panel NGS Genetic DNA Test offers numerous benefits, including:
- Early detection of CAH, allowing for prompt treatment and management.
- Informed family planning and genetic counseling for at-risk families.
- Personalized treatment plans based on genetic findings.
- Peace of mind for patients and families regarding their genetic health.
Understanding Your Results
Results from the Congenital Adrenal Hyperplasia Panel NGS Genetic DNA Test will indicate the presence or absence of specific genetic mutations. A positive result may necessitate further clinical evaluation and management by a healthcare professional specializing in genetics or endocrinology. It is essential to discuss your results with your doctor to understand their implications fully.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
Congenital Adrenal Hyperplasia Panel NGS Genetic DNA Test | 40,000 KSh | 60,000 KSh |
Sample Type and Instructions
The sample type required for this test can be:
- Blood
- Extracted DNA
- One drop of blood on an FTA Card
Pre-test instructions include a clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected by the relevant genes.
Book Your Test Today!
We have branches across Kenya, making it convenient for you to access our services. To book the Congenital Adrenal Hyperplasia Panel NGS Genetic DNA Test, please call or WhatsApp us at +254711564616. Don’t wait for your health; take action today!