Short Description

NGS genetic DNA test detecets for variant and mutation detection in GLUD1 gene for Hyperinsulinemic hypoglycemia type 6

PreTest Information

Clinical History of Patient who is going for GLUD1 Gene Hyperinsulinemic hypoglycemia type 6 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hyperinsulinemic hypoglycemia type 6

Detail Description

GLUD1 Gene Hyperinsulinemic Hypoglycemia Type 6 NGS Genetic DNA Test

Hyperinsulinemic hypoglycemia type 6 (HH6) is a rare genetic condition that affects the regulation of blood sugar levels in the body. It is caused by mutations in the GLUD1 gene, which codes for the enzyme glutamate dehydrogenase. This enzyme plays a key role in the regulation of insulin secretion.

People with HH6 have low blood sugar levels (hypoglycemia) that can lead to seizures, developmental delays, and other neurological problems if left untreated. The symptoms of HH6 can vary depending on the severity of the condition, but they typically include:

• Low blood sugar levels
• Irritability
• Fatigue
• Seizures
• Developmental delays
• Difficulty gaining weight

Diagnosing HH6 can be challenging, as the symptoms can be similar to other conditions. However, a genetic test can confirm whether or not someone has the GLUD1 gene mutation that causes HH6. This test is known as the GLUD1 Gene Hyperinsulinemic Hypoglycemia Type 6 NGS Genetic DNA Test.

The GLUD1 Gene Hyperinsulinemic Hypoglycemia Type 6 NGS Genetic DNA Test is a next-generation sequencing (NGS) test that analyzes a person's DNA to identify mutations in the GLUD1 gene. The test is performed using a blood sample, and the results are usually available within a few weeks.

The cost of the GLUD1 Gene Hyperinsulinemic Hypoglycemia Type 6 NGS Genetic DNA Test in India is approximately INR 20,000. This cost may vary depending on the laboratory that performs the test.

If you or a loved one is experiencing symptoms of HH6, it is important to seek medical attention. A healthcare professional can help determine whether genetic testing is necessary and can provide guidance on treatment options.

Conclusion

Hyperinsulinemic hypoglycemia type 6 is a rare genetic condition that can have serious consequences if left untreated. The GLUD1 Gene Hyperinsulinemic Hypoglycemia Type 6 NGS Genetic DNA Test is a valuable tool for diagnosing this condition and can help healthcare professionals provide appropriate treatment. If you suspect that you or a loved one may have HH6, it is important to seek medical attention and discuss the possibility of genetic testing.