Short Description

NGS genetic DNA test detecets for variant and mutation detection in NNT gene for Glucocorticoid deficiency type 4, with or without mineralocorticoid deficiency

PreTest Information

Clinical History of Patient who is going for NNT Gene Glucocorticoid deficiency type 4, with or without mineralocorticoid deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NNT Gene Glucocorticoid deficiency type 4, with or without mineralocorticoid deficiency NGS Genetic DNA Test gene NNT

Detail Description

NNT Gene Glucocorticoid Deficiency Type 4: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Glucocorticoid deficiency type 4 (GCD4) is a rare genetic disorder caused by mutations in the NNT gene. The NNT gene provides instructions for making an enzyme called nicotinamide nucleotide transhydrogenase, which is involved in energy production in the mitochondria of cells. Mutations in this gene can affect the function of the enzyme and lead to GCD4.

Symptoms of GCD4

The symptoms of GCD4 can vary widely, even among members of the same family with the same mutation. Some common symptoms include:

• Low blood sugar (hypoglycemia)
• Dehydration
• Weight loss
• Weakness and fatigue
• Low blood pressure
• Abdominal pain
• Nausea and vomiting
• Increased skin pigmentation

Some people with GCD4 also have mineralocorticoid deficiency, which can cause additional symptoms such as salt cravings, low blood sodium levels, and high blood potassium levels.

Diagnosis of GCD4

GCD4 is typically diagnosed through genetic testing. A blood or saliva sample is collected and analyzed for mutations in the NNT gene. Other tests, such as blood tests for cortisol and aldosterone levels, may also be done to help confirm the diagnosis.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA testing for GCD4 in India is approximately INR 20,000. This cost may vary depending on the specific testing facility and any additional tests that may be required.

Conclusion

GCD4 is a rare genetic disorder caused by mutations in the NNT gene. It can cause a variety of symptoms, including low blood sugar, dehydration, and weakness. Diagnosis is typically done through genetic testing, and the cost of NGS genetic DNA testing in India is approximately INR 20,000. If you or a loved one are experiencing symptoms of GCD4, it is important to talk to a healthcare provider and consider genetic testing for an accurate diagnosis and appropriate treatment.