Short Description

NGS genetic DNA test detecets for variant and mutation detection in GCDH gene for Glutaric acidemia type 1

PreTest Information

Clinical History of Patient who is going for GCDH Gene Glutaric acidemia type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glutaric acidemia type 1

Detail Description

GCDH Gene Glutaric Acidemia Type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Glutaric acidemia type 1 (GA1) is a rare genetic disorder that affects the body's ability to break down certain amino acids. This buildup of acids can cause damage to the brain, leading to developmental delays, seizures, and other serious health problems. Fortunately, genetic testing can help identify this disorder early on, allowing for effective treatment and management.

What is the GCDH Gene?

The GCDH gene is responsible for producing an enzyme called glutaryl-CoA dehydrogenase, which helps break down certain amino acids. Mutations in this gene can lead to a buildup of glutaric acid in the body, causing GA1.

What are the Symptoms of GA1?

The symptoms of GA1 can vary widely, but some common signs include:

• Developmental delays
• Seizures
• Unusual movements
• Low muscle tone
• Poor feeding
• Vomiting
• Irritability

If left untreated, GA1 can lead to permanent brain damage and intellectual disability.

How is GA1 Diagnosed?

GA1 is typically diagnosed through a blood or urine test that measures the levels of certain amino acids and organic acids. Genetic testing can also be used to confirm a diagnosis by identifying mutations in the GCDH gene.

What is NGS Genetic DNA Testing?

NGS (next-generation sequencing) is a type of genetic testing that allows for the analysis of multiple genes at once. This technology has revolutionized genetic testing by making it faster, more accurate, and less expensive than traditional methods.

What is the Cost of GCDH Gene NGS Genetic DNA Testing?

The cost of GCDH gene NGS genetic DNA testing in India is typically around INR 20,000.

Conclusion

If you suspect that you or your child may have GA1, it is important to seek medical attention as soon as possible. Early diagnosis and treatment can make a significant difference in managing this disorder and preventing serious complications. Contact DNA Labs India today for more information on genetic testing for GA1 and other rare genetic disorders.