Symptoms and Testing information for GNAS Gene Pseudohypoparathyroidism type 1B Genetic Test

Symptoms and Testing information for GNAS Gene Pseudohypoparathyroidism type 1B Genetic Test

Pseudohypoparathyroidism type 1B (PHP1B) is a rare genetic disorder that affects the body’s ability to regulate calcium and phosphate levels, leading to various physical and developmental symptoms. DNA Labs UAE offers a comprehensive genetic test for the GNAS gene, which is associated with PHP1B, to help diagnose this condition accurately. The cost of the test is 4400 AED.

Symptoms of Pseudohypoparathyroidism Type 1B

Pseudohypoparathyroidism type 1B is characterized by a range of symptoms that can vary significantly in severity among individuals. These symptoms are primarily due to the body’s resistance to the action of parathyroid hormone (PTH), leading to low calcium levels and high phosphate levels in the blood. The most common symptoms include:

  • Physical Development Issues: Individuals with PHP1B may experience short stature, a round face, and sometimes obesity.
  • Calcium Deficiency: Symptoms related to low calcium levels in the blood, such as muscle cramps, tingling in the fingertips, and generalized seizures, are common.
  • Resistance to PTH: Despite the presence of normal or elevated PTH levels, the body shows resistance to its effects, leading to the symptoms associated with hypocalcemia and hyperphosphatemia.
  • Developmental Delays: Some individuals with PHP1B may experience developmental delays or learning disabilities.
  • Skeletal Abnormalities: Abnormal bone development, including short bones and sometimes dental issues, can occur.

It is important to note that not all individuals with PHP1B will experience all of these symptoms, and the severity can vary widely.

Diagnosing Pseudohypoparathyroidism Type 1B

Diagnosing PHP1B can be challenging due to the variability in symptoms and their similarity to other conditions. Genetic testing of the GNAS gene plays a crucial role in confirming the diagnosis. DNA Labs UAE offers a specialized GNAS Gene Pseudohypoparathyroidism Type 1B Genetic Test that can accurately identify mutations in the GNAS gene, providing a definitive diagnosis for individuals suspected of having PHP1B. This test is particularly important for individuals who exhibit symptoms of PHP1B or have a family history of the condition.

Cost of the Genetic Test

The cost of the GNAS Gene Pseudohypoparathyroidism Type 1B Genetic Test at DNA Labs UAE is 4400 AED. This cost includes the full analysis of the GNAS gene to detect any mutations associated with PHP1B. The test is conducted by experienced geneticists using state-of-the-art technology to ensure accurate and reliable results.

Conclusion

Pseudohypoparathyroidism type 1B is a complex condition that requires accurate diagnosis and management. The GNAS Gene Pseudohypoparathyroidism Type 1B Genetic Test offered by DNA Labs UAE provides a crucial tool in diagnosing this condition, enabling affected individuals to receive appropriate treatment and management strategies. If you or a family member are experiencing symptoms associated with PHP1B or have a family history of the condition, consider speaking with a healthcare professional about the possibility of undergoing genetic testing.

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