GNAS Gene Pseudohypoparathyroidism type 1B Genetic Test
Components: GNAS Gene Pseudohypoparathyroidism type 1B Genetic Test
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 1B NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GNAS Gene Pseudohypoparathyroidism type 1B NGS Genetic DNA Test gene GNAS
Test Details:
The GNAS gene is associated with a condition called pseudohypoparathyroidism type 1B (PHP1B). This genetic test, known as NGS (Next-Generation Sequencing), is used to analyze the GNAS gene for any mutations or variations that may be present. Pseudohypoparathyroidism type 1B is a rare genetic disorder that affects the regulation of calcium and phosphate levels in the body. It is characterized by resistance to the parathyroid hormone, which leads to low levels of calcium and high levels of phosphate in the blood. Symptoms of PHP1B can vary but may include short stature, round face, obesity, and intellectual disability.
NGS is a high-throughput sequencing technology that allows for the simultaneous analysis of multiple genes, including the GNAS gene. This test can detect various types of genetic alterations, such as point mutations, insertions, deletions, and gene rearrangements. It provides a comprehensive assessment of the GNAS gene, helping to identify specific mutations or variations that may be causing pseudohypoparathyroidism type 1B.
The NGS genetic test for GNAS gene analysis is typically performed using a blood or saliva sample. The sample is sent to a specialized laboratory where the DNA is extracted and sequenced using NGS technology. The resulting data is then analyzed, and any genetic variations or mutations in the GNAS gene are identified and reported.
The results of the NGS genetic test can help in confirming a diagnosis of pseudohypoparathyroidism type 1B and guiding appropriate management and treatment options. Genetic testing may also be useful for identifying carriers of the GNAS gene mutation within families and for providing genetic counseling.
It is important to note that the NGS genetic test for GNAS gene analysis is typically performed in specialized genetic testing laboratories and requires a healthcare professional’s order. Genetic counseling is often recommended before and after the test to discuss the implications of the results and to provide support and guidance to individuals and families.
| Test Name | GNAS Gene Pseudohypoparathyroidism type 1B 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 1B NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GNAS Gene Pseudohypoparathyroidism type 1B NGS Genetic DNA Test gene GNAS |
| Test Details | The GNAS gene is associated with a condition called pseudohypoparathyroidism type 1B (PHP1B). This genetic test, known as NGS (Next-Generation Sequencing), is used to analyze the GNAS gene for any mutations or variations that may be present. Pseudohypoparathyroidism type 1B is a rare genetic disorder that affects the regulation of calcium and phosphate levels in the body. It is characterized by resistance to the parathyroid hormone, which leads to low levels of calcium and high levels of phosphate in the blood. Symptoms of PHP1B can vary but may include short stature, round face, obesity, and intellectual disability. NGS is a high-throughput sequencing technology that allows for the simultaneous analysis of multiple genes, including the GNAS gene. This test can detect various types of genetic alterations, such as point mutations, insertions, deletions, and gene rearrangements. It provides a comprehensive assessment of the GNAS gene, helping to identify specific mutations or variations that may be causing pseudohypoparathyroidism type 1B. The NGS genetic test for GNAS gene analysis is typically performed using a blood or saliva sample. The sample is sent to a specialized laboratory where the DNA is extracted and sequenced using NGS technology. The resulting data is then analyzed, and any genetic variations or mutations in the GNAS gene are identified and reported. The results of the NGS genetic test can help in confirming a diagnosis of pseudohypoparathyroidism type 1B and guiding appropriate management and treatment options. Genetic testing may also be useful for identifying carriers of the GNAS gene mutation within families and for providing genetic counseling. It is important to note that the NGS genetic test for GNAS gene analysis is typically performed in specialized genetic testing laboratories and requires a healthcare professional’s order. Genetic counseling is often recommended before and after the test to discuss the implications of the results and to provide support and guidance to individuals and families. |
