Short Description

NGS genetic DNA test detecets for variant and mutation detection in GPR101 gene for Acromegaly, predisposition to, due to germline GPR101 mutation

PreTest Information

Clinical History of Patient who is going for GPR101 Gene Acromegaly, predisposition to, due to germline GPR101 mutation NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GPR101 Gene Acromegaly, predisposition to, due to germline GPR101 mutation NGS Genetic DNA Test gene GPR101

Detail Description

GPR101 Gene Acromegaly - Predisposition, Symptoms, Diagnosis, and Cost of NGS Genetic DNA Test

Acromegaly is a rare condition that occurs when the pituitary gland produces too much growth hormone, resulting in abnormal growth and enlargement of bones and tissues. While most cases of acromegaly are sporadic, some individuals may be predisposed to the condition due to a germline mutation in the GPR101 gene.

What is the GPR101 Gene?

The GPR101 gene is located on chromosome Xq26.3 and encodes for a G protein-coupled receptor that plays a role in regulating the release of growth hormone. A germline mutation in this gene can result in the overproduction of growth hormone, leading to acromegaly.

Symptoms of Acromegaly

Acromegaly develops slowly and may take several years to become noticeable. The symptoms of acromegaly include:

• Enlargement of the hands, feet, and facial features
• Thickening of the skin
• Deepening of the voice
• Joint pain and stiffness
• Increased sweating and body odor
• Sleep apnea
• Headaches
• Visual disturbances

Diagnosis of Acromegaly

The diagnosis of acromegaly involves a combination of physical examination, medical history, and laboratory tests. The following tests may be used to diagnose acromegaly:

• IGF-1 (insulin-like growth factor 1) test
• GH (growth hormone) suppression test
• MRI (magnetic resonance imaging) of the pituitary gland

NGS Genetic DNA Test for GPR101 Mutation

If there is a suspicion of a germline GPR101 mutation causing acromegaly, a Next-Generation Sequencing (NGS) genetic DNA test can be performed to confirm the presence of the mutation. This test involves the sequencing of the entire GPR101 gene to identify any mutations. The cost of the NGS genetic DNA test for GPR101 mutation is INR 20,000.

Conclusion

Acromegaly is a rare condition that can be caused by a germline mutation in the GPR101 gene. If you or someone you know is experiencing symptoms of acromegaly, it is important to seek medical attention. A diagnosis of acromegaly can be confirmed with laboratory tests, and a genetic DNA test for GPR101 mutation can be performed to identify any predisposition to the condition. At DNA Labs India, we offer NGS genetic DNA testing for GPR101 mutation at a cost of INR 20,000.