CYP21A2 Gene Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency NGS Genetic DNA Test
Introduction
The CYP21A2 Gene Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency NGS Genetic DNA Test is a specialized genetic test designed to detect mutations in the CYP21A2 gene, which is responsible for producing an enzyme crucial for adrenal hormone synthesis. This test is vital for diagnosing congenital adrenal hyperplasia (CAH), a condition that affects the adrenal glands and can lead to serious health issues if left untreated.
What the Test Measures
This test specifically measures the presence of genetic mutations in the CYP21A2 gene that can lead to 21-hydroxylase deficiency. By utilizing Next Generation Sequencing (NGS) technology, this test provides a comprehensive analysis of the gene, ensuring accurate detection of any abnormalities.
Who Should Consider This Test
Individuals who may benefit from this test include:
- Newborns with ambiguous genitalia or adrenal crisis.
- Individuals with a family history of congenital adrenal hyperplasia.
- Patients presenting symptoms such as early onset of puberty, abnormal menstrual cycles, or infertility.
Benefits of Taking the Test
The CYP21A2 Gene Adrenal Hyperplasia Test offers several benefits:
- Early diagnosis of congenital adrenal hyperplasia, allowing for timely intervention.
- Informed family planning through genetic counseling.
- Better management of symptoms related to adrenal insufficiency.
Understanding Your Results
Results from this test will indicate whether mutations are present in the CYP21A2 gene. A positive result suggests a diagnosis of 21-hydroxylase deficiency, while a negative result indicates that no mutations were detected. It is essential to discuss your results with a healthcare provider to understand the implications fully.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| CYP21A2 Gene Adrenal Hyperplasia Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the CYP21A2 Gene Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with the booking process and provide 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 and a Genetic Counseling session to draw a pedigree chart of family members affected with Adrenal hyperplasia due to 21-hydroxylase deficiency is recommended.
Specialty: General Physician
Department: Genetics
Method: NGS Technology
Disease Type: Metabolic Disorders
