GNAS Gene Pseudohypoparathyroidism type 1A Genetic Test
Test Name: GNAS Gene Pseudohypoparathyroidism type 1A Genetic Test
Components: NGS Technology
Price: 4400.0 AED
Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery: 3 to 4 Weeks
Test Type: Hepatology Nephrology Endocrinology Disorders
Doctor: General Physician
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for GNAS Gene Pseudohypoparathyroidism type 1A NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GNAS Gene Pseudohypoparathyroidism type 1A NGS Genetic DNA Test gene GNAS
Test Details
The GNAS gene is responsible for producing a protein called the alpha subunit of the stimulatory G protein (Gs). This protein plays a crucial role in signaling pathways that regulate hormone production and cell function. Pseudohypoparathyroidism type 1A (PHP1A) is a genetic disorder caused by mutations in the GNAS gene. This condition is characterized by resistance to the action of parathyroid hormone (PTH), which leads to low levels of calcium in the blood (hypocalcemia) and high levels of phosphate (hyperphosphatemia). Additionally, PHP1A can cause short stature, obesity, round face, and other physical features.
Next-generation sequencing (NGS) is a genetic testing method that allows for the simultaneous analysis of multiple genes, including the GNAS gene. This test can identify mutations or variations in the GNAS gene that may be responsible for PHP1A. By performing an NGS genetic test for PHP1A, healthcare professionals can accurately diagnose individuals with this condition. This information is crucial for appropriate management and treatment planning for affected individuals.
Test Name | GNAS Gene Pseudohypoparathyroidism type 1A Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Hepatology Nephrology Endocrinology Disorders |
Doctor | General Physician |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for GNAS Gene Pseudohypoparathyroidism type 1A NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GNAS Gene Pseudohypoparathyroidism type 1A NGS Genetic DNA Test gene GNAS |
Test Details |
The GNAS gene is responsible for producing a protein called the alpha subunit of the stimulatory G protein (Gs). This protein plays a crucial role in signaling pathways that regulate hormone production and cell function. Pseudohypoparathyroidism type 1A (PHP1A) is a genetic disorder caused by mutations in the GNAS gene. This condition is characterized by resistance to the action of parathyroid hormone (PTH), which leads to low levels of calcium in the blood (hypocalcemia) and high levels of phosphate (hyperphosphatemia). Additionally, PHP1A can cause short stature, obesity, round face, and other physical features. Next-generation sequencing (NGS) is a genetic testing method that allows for the simultaneous analysis of multiple genes, including the GNAS gene. This test can identify mutations or variations in the GNAS gene that may be responsible for PHP1A. By performing an NGS genetic test for PHP1A, healthcare professionals can accurately diagnose individuals with this condition. This information is crucial for appropriate management and treatment planning for affected individuals. |