Short Description

NGS genetic DNA test detecets for variant and mutation detection in D2HGDH gene for D-2-hydroxyglutaric aciduria type 1

PreTest Information

Clinical History of Patient who is going for D2HGDH Gene D-2-hydroxyglutaric aciduria type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with D-2-hydroxyglutaric aciduria type 1

Detail Description

D2HGDH Gene: D-2-hydroxyglutaric aciduria type 1 NGS Genetic DNA Test

D-2-hydroxyglutaric aciduria type 1 (D2HGA1) is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the D2HGDH gene, which codes for an enzyme that helps to break down a specific type of amino acid called L-2-hydroxyglutarate (L-2-HG).

The buildup of L-2-HG in the body leads to progressive damage to the brain, resulting in developmental delays, intellectual disability, seizures, and movement disorders. The severity of symptoms can vary widely, even among individuals with the same genetic mutation.

Symptoms

The symptoms of D2HGA1 can vary widely, but may include:

• Delayed development
• Intellectual disability
• Seizures
• Abnormal muscle tone
• Difficulty with movement and coordination
• Behavioral problems

Diagnosis

D2HGA1 can be diagnosed through genetic testing, which looks for mutations in the D2HGDH gene. The test may be recommended for individuals with symptoms of the disorder, as well as for family members of affected individuals who may be at risk of carrying the mutation.

NGS Genetic DNA Test

Next-generation sequencing (NGS) is a powerful tool for genetic testing, allowing for the analysis of multiple genes at once. DNA Labs India offers an NGS Genetic DNA Test for D2HGA1, which can detect mutations in the D2HGDH gene with high accuracy.

Cost

The cost of the D2HGDH Gene D-2-hydroxyglutaric aciduria type 1 NGS Genetic DNA Test at DNA Labs India is INR 20,000. This includes the cost of sample collection, testing, and analysis by a team of experienced geneticists.

Conclusion

D2HGA1 is a rare genetic disorder that can cause significant developmental and neurological problems. Genetic testing, such as the NGS Genetic DNA Test offered by DNA Labs India, can help to diagnose the disorder and provide important information for families and healthcare providers. If you or a loved one are experiencing symptoms of D2HGA1, speak with your healthcare provider about the possibility of genetic testing.