GNAS Gene Pseudohypoparathyroidism Type 1B NGS Genetic DNA Test
Introduction to the Test
The GNAS Gene Pseudohypoparathyroidism Type 1B NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the GNAS gene, which plays a critical role in parathyroid hormone signaling. This test is particularly important for individuals exhibiting symptoms of pseudohypoparathyroidism, a rare genetic disorder that affects calcium and phosphate metabolism, leading to various health complications.
What the Test Measures
This test utilizes Next-Generation Sequencing (NGS) technology to detect specific mutations in the GNAS gene. By analyzing the genetic material, healthcare providers can determine whether a patient has inherited the genetic changes associated with Pseudohypoparathyroidism Type 1B.
Who Should Consider This Test?
Individuals who may benefit from this test include:
- Patients with a family history of pseudohypoparathyroidism or related endocrine disorders.
- Those exhibiting symptoms such as hypocalcemia, hyperphosphatemia, and resistance to parathyroid hormone.
- Individuals undergoing genetic counseling for hereditary endocrine disorders.
Benefits of Taking the Test
Taking the GNAS Gene Pseudohypoparathyroidism Type 1B NGS Genetic DNA Test provides numerous benefits, including:
- Accurate diagnosis of genetic conditions.
- Informed management of symptoms and health complications.
- Guidance for family planning and genetic counseling.
- Early intervention strategies to mitigate health risks.
Understanding Your Results
Upon completion of the test, results will be analyzed and interpreted by genetic specialists. Understanding these results is crucial for determining the appropriate next steps in management and treatment. A clear explanation will be provided, outlining any detected mutations and their implications for health.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| GNAS Gene Pseudohypoparathyroidism Type 1B NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the GNAS Gene Pseudohypoparathyroidism Type 1B NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website for more information. Our dedicated team is here to assist you with any questions and to schedule your appointment.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: Clinical history of the patient and a genetic counseling session are required to draw a pedigree chart of family members affected with GNAS Gene Pseudohypoparathyroidism Type 1B.
This test falls under the specialties of General Physician, Genetics, and is relevant to the fields of Hepatology, Nephrology, and Endocrinology Disorders.
