Short Description

NGS genetic DNA test detecets for variant and mutation detection in TBX19 gene for Adrenocorticotropic hormone deficiency

PreTest Information

Clinical History of Patient who is going for TBX19 Gene Adrenocorticotropic hormone deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TBX19 Gene Adrenocorticotropic hormone deficiency NGS Genetic DNA Test gene TBX19

Detail Description

TBX19 Gene Adrenocorticotropic Hormone Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Adrenocorticotropic hormone (ACTH) deficiency is a rare disorder that affects the adrenal glands. It is caused by a deficiency in the production of ACTH, which stimulates the adrenal glands to produce cortisol. Cortisol is a hormone that helps regulate the body's response to stress and is essential for maintaining normal blood sugar levels, blood pressure, and immune system function.

ACTH deficiency can be caused by genetic mutations, including mutations in the TBX19 gene. The TBX19 gene provides instructions for making a protein that is essential for the development and function of the pituitary gland, which produces ACTH.

Symptoms of TBX19 Gene Adrenocorticotropic Hormone Deficiency

Symptoms of TBX19 gene ACTH deficiency can vary depending on the severity of the condition. In severe cases, symptoms may include:

• Weakness and fatigue
• Weight loss
• Nausea and vomiting
• Low blood pressure
• Low blood sugar
• Loss of appetite
• Darkening of the skin
• Depression
• Increased susceptibility to infections

In milder cases, symptoms may be less severe and may include:

• Weakness and fatigue
• Weight loss
• Nausea and vomiting
• Low blood pressure
• Low blood sugar

Diagnosis of TBX19 Gene Adrenocorticotropic Hormone Deficiency

Diagnosis of TBX19 gene ACTH deficiency typically involves a combination of blood tests and imaging studies. Blood tests can measure cortisol and ACTH levels, as well as other hormones produced by the pituitary gland. Imaging studies, such as magnetic resonance imaging (MRI) or computed tomography (CT) scans, can help identify structural abnormalities in the pituitary gland.

NGS Genetic DNA Test for TBX19 Gene Adrenocorticotropic Hormone Deficiency

Next-generation sequencing (NGS) genetic DNA testing can help identify mutations in the TBX19 gene that may cause ACTH deficiency. This type of testing involves analyzing the DNA sequence of the TBX19 gene to identify any mutations or changes that may be present. NGS testing is a highly accurate and reliable method for identifying genetic mutations.

Cost of NGS Genetic DNA Test for TBX19 Gene Adrenocorticotropic Hormone Deficiency

The cost of NGS genetic DNA testing for TBX19 gene ACTH deficiency can vary depending on the testing provider and the location. In India, the cost of NGS testing for this condition is typically around INR 20,000.

Conclusion

TBX19 gene ACTH deficiency is a rare disorder that can cause a range of symptoms, including weakness, fatigue, weight loss, and low blood pressure. Diagnosis typically involves a combination of blood tests and imaging studies, and NGS genetic DNA testing can help identify mutations in the TBX19 gene that may be responsible for the condition. The cost of NGS testing for this condition in India is typically around INR 20,000.

If you are experiencing symptoms of TBX19 gene ACTH deficiency, it is important to speak with your healthcare provider to receive an accurate diagnosis and appropriate treatment.

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 TBX19 Gene Adrenocorticotropic hormone deficiency NGS Genetic DNA Test