Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC25A1 gene for Combined D-2- and L-2-hydroxyglutaric aciduria

PreTest Information

Clinical History of Patient who is going for SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric aciduria NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined D-2- and L-2-hydroxyglutaric aciduria

Detail Description

Understanding SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric Aciduria NGS Genetic DNA Test

D-2- and L-2-hydroxyglutaric aciduria is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the SLC25A1 gene, which encodes for a mitochondrial citrate transporter protein. This protein is responsible for the transport of citrate across the mitochondrial membrane, which is essential for the production of energy in the cell.

Symptoms of SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric Aciduria

The symptoms of this condition can vary widely between individuals and may include:

• Developmental delay
• Seizures
• Weak muscle tone (hypotonia)
• Intellectual disability
• Abnormal movements
• Speech difficulties
• Uncontrolled muscle contractions (dystonia)
• Behavioral problems

Diagnosis of SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric Aciduria

Diagnosis of this condition can be challenging due to the wide range of symptoms and the rarity of the disease. A genetic test is required to confirm the presence of mutations in the SLC25A1 gene. This can be done using next-generation sequencing (NGS) technology, which allows for the sequencing of the entire gene in a single test.

SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric Aciduria NGS Genetic DNA Test Cost

The cost of the SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric Aciduria NGS Genetic DNA Test in India is INR 20,000. This test is available at DNA Labs India, a leading genetic testing laboratory in the country.

Conclusion

SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric Aciduria is a rare genetic disorder that can cause a wide range of symptoms. Diagnosis of this condition requires genetic testing using NGS technology. DNA Labs India provides this test at an affordable cost, allowing for early detection and treatment of this condition.