Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC16A1 gene for Hyperinsulinemic hypoglycemia type 7

PreTest Information

Clinical History of Patient who is going for SLC16A1 Gene Hyperinsulinemic hypoglycemia type 7 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hyperinsulinemic hypoglycemia type 7

Detail Description

SLC16A1 Gene Hyperinsulinemic Hypoglycemia Type 7 NGS Genetic DNA Test

Hyperinsulinemic hypoglycemia (HH) is a rare genetic disorder that affects the way the body produces and regulates insulin, a hormone that controls blood sugar levels. HH is caused by mutations in several genes, one of which is SLC16A1. SLC16A1 gene mutations can lead to hyperinsulinemic hypoglycemia type 7 (HH7), a severe form of HH that can cause seizures, developmental delays, and brain damage if left untreated.

NGS genetic DNA testing is a powerful tool for detecting genetic mutations associated with HH7. This type of testing uses next-generation sequencing technology to analyze the entire SLC16A1 gene, allowing for highly accurate and comprehensive results. NGS genetic DNA testing is the gold standard for diagnosing HH7 and can provide valuable information for treatment planning and genetic counseling.

Symptoms of HH7

The symptoms of HH7 can vary depending on the severity of the condition. Infants with severe HH7 may experience seizures, lethargy, poor feeding, and failure to thrive. Children with milder forms of HH7 may have hypoglycemic episodes that cause irritability, confusion, and shakiness. HH7 can also cause developmental delays, learning disabilities, and other neurological problems if left untreated.

Diagnosing HH7

Diagnosing HH7 can be challenging, as the condition can be mistaken for other disorders that cause hypoglycemia, such as diabetes or adrenal insufficiency. However, NGS genetic DNA testing can provide a definitive diagnosis by identifying mutations in the SLC16A1 gene. Other diagnostic tests, such as glucose tolerance tests and insulin stimulation tests, may also be used to confirm the diagnosis and assess the severity of the condition.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for HH7 can vary depending on the laboratory and the specific tests ordered. At DNA Labs India, we offer comprehensive NGS genetic DNA testing for HH7 at a cost of INR 20,000. This includes sequencing and analysis of the entire SLC16A1 gene, as well as a detailed report of the results.

Conclusion

HH7 is a rare genetic disorder that can cause severe hypoglycemia and neurological problems if left untreated. NGS genetic DNA testing is a powerful tool for diagnosing HH7 and can provide valuable information for treatment planning and genetic counseling. At DNA Labs India, we offer comprehensive NGS genetic DNA testing for HH7 at an affordable cost. Contact us today to learn more about our testing services.