Short Description

NGS genetic DNA test detecets for variant and mutation detection in GHRHR gene for Growth hormone deficiency

PreTest Information

Clinical History of Patient who is going for GHRHR Gene Growth hormone deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GHRHR Gene Growth hormone deficiency NGS Genetic DNA Test gene GHRHR

Detail Description

Understanding GHRHR Gene and Growth Hormone Deficiency: NGS Genetic DNA Test Cost INR 20000, Symptoms, Diagnosis

Growth hormone deficiency (GHD) is a medical condition that occurs when the pituitary gland fails to produce enough growth hormone. This can lead to a variety of health problems, including short stature, delayed puberty, and decreased bone density. GHD can be caused by a variety of factors, including genetic mutations. One such gene that is associated with GHD is the GHRHR gene. In this blog, we will explore the GHRHR gene and how NGS genetic DNA testing can help diagnose GHD.

What is the GHRHR Gene?

The GHRHR gene, also known as the growth hormone-releasing hormone receptor gene, provides instructions for making a protein called the growth hormone-releasing hormone receptor. This protein is found on the surface of cells in the pituitary gland and plays a crucial role in the release of growth hormone. Mutations in the GHRHR gene can lead to a decrease in the number or function of growth hormone-releasing hormone receptors, which can cause GHD.

Symptoms of Growth Hormone Deficiency

The symptoms of GHD can vary depending on the age of onset and severity of the condition. In children, the most common symptom is short stature. Children with GHD may also experience delayed puberty, a slower rate of growth, and a higher risk of fractures. In adults, GHD can cause a variety of symptoms, including:

• Fatigue and lack of energy
• Decreased muscle mass and strength
• Increased fat mass, particularly around the waist
• Decreased bone density and increased risk of fractures
• Decreased libido and sexual function

Diagnosing Growth Hormone Deficiency

Diagnosing GHD can be challenging because the symptoms can be similar to other medical conditions. However, there are several tests that can be used to diagnose GHD, including:

• Growth hormone stimulation test: This test involves measuring the level of growth hormone in the blood before and after a stimulus, such as exercise or medication. A decrease in growth hormone levels after the stimulus may indicate GHD.
• Insulin-like growth factor 1 (IGF-1) test: This test measures the level of IGF-1, a hormone that is produced in response to growth hormone. Low levels of IGF-1 may indicate GHD.
• NGS genetic DNA testing: Next-generation sequencing (NGS) is a type of genetic testing that can identify mutations in the GHRHR gene. This test can help diagnose GHD and identify the underlying genetic cause.

NGS Genetic DNA Test Cost INR 20000

The cost of NGS genetic DNA testing for GHD can vary depending on the laboratory and location. In India, the cost of this test is typically around INR 20000. However, it is important to note that this test may not be covered by insurance and may require out-of-pocket expenses.

Conclusion

Growth hormone deficiency can have a significant impact on an individual's health and quality of life. Understanding the role of the GHRHR gene and utilizing diagnostic tests such as NGS genetic DNA testing can help identify the underlying cause of GHD and inform treatment options. If you are experiencing symptoms of GHD or have a family history of the condition, speak with your healthcare provider about the appropriate diagnostic tests and treatment options.

For more information on NGS genetic DNA testing for GHD, contact DNA Labs India.

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 GHRHR Gene Growth hormone deficiency NGS Genetic DNA Test