Short Description

NGS genetic DNA test detecets for variant and mutation detection in GNAS gene for Pseudohypoparathyroidism type 1A

PreTest 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

Detail Description

Understanding GNAS Gene Pseudohypoparathyroidism type 1A NGS Genetic DNA Test

GNAS gene pseudohypoparathyroidism type 1A is a genetic disorder that affects the regulation of calcium and phosphate in the body. It is caused by a mutation in the GNAS gene, which is responsible for producing a protein that helps regulate hormone activity. The disorder can cause a range of symptoms, including skeletal abnormalities, developmental delays, and hormonal imbalances.

Symptoms of GNAS Gene Pseudohypoparathyroidism type 1A

The symptoms of GNAS gene pseudohypoparathyroidism type 1A can vary widely, depending on the severity of the condition and the age of onset. In some cases, the disorder may be asymptomatic, while in others, it can cause significant health problems.

Some of the most common symptoms of GNAS gene pseudohypoparathyroidism type 1A include:

• Short stature
• Bone abnormalities, such as a curved spine or shortened fingers
• Hypothyroidism
• Delayed puberty
• Obesity
• Developmental delays
• Cognitive impairment

Diagnosis of GNAS Gene Pseudohypoparathyroidism type 1A

Diagnosis of GNAS gene pseudohypoparathyroidism type 1A typically involves a combination of physical exams, blood tests, and genetic testing. The physical exam may include a review of the patient's medical history, as well as a thorough examination of the skeletal system and other body systems.

Blood tests can be used to measure the levels of calcium, phosphate, and other hormones in the body. Genetic testing, such as NGS genetic DNA testing, can be used to identify mutations in the GNAS gene that may be responsible for the disorder.

NGS Genetic DNA Test for GNAS Gene Pseudohypoparathyroidism type 1A

NGS genetic DNA testing is a highly accurate and reliable way to identify mutations in the GNAS gene that may be responsible for GNAS gene pseudohypoparathyroidism type 1A. The test involves analyzing a sample of the patient's DNA to look for specific mutations or changes in the GNAS gene.

The cost of NGS genetic DNA testing for GNAS gene pseudohypoparathyroidism type 1A can vary depending on the provider and the location. In India, the cost of the test is typically around INR 20,000.

Conclusion

GNAS gene pseudohypoparathyroidism type 1A is a genetic disorder that can cause a range of symptoms, including skeletal abnormalities, developmental delays, and hormonal imbalances. Diagnosis typically involves a combination of physical exams, blood tests, and genetic testing, such as NGS genetic DNA testing. The cost of NGS genetic DNA testing in India for GNAS gene pseudohypoparathyroidism type 1A is typically around INR 20,000.

If you suspect that you or a loved one may have GNAS gene pseudohypoparathyroidism type 1A, it is important to speak with a healthcare provider for an accurate diagnosis and appropriate treatment options.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing for GNAS gene pseudohypoparathyroidism type 1A. Our experienced team of genetic counselors and laboratory technicians can help you understand your test results and provide guidance on next steps. Contact us today to learn more.

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Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for GNAS Gene Pseudohypoparathyroidism type 1A NGS Genetic DNA Test