Short Description

NGS genetic DNA test detecets for variant and mutation detection in L2HGDH gene for L-2-hydroxyglutaric aciduria

PreTest Information

Clinical History of Patient who is going for L2HGDH Gene L-2-hydroxyglutaric aciduria NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with L-2-hydroxyglutaric aciduria

Detail Description

L2HGDH Gene L-2-hydroxyglutaric aciduria NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

L-2-hydroxyglutaric aciduria is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the L2HGDH gene, which encodes an enzyme that is responsible for breaking down L-2-hydroxyglutaric acid in the body. When this enzyme is not functioning correctly, L-2-hydroxyglutaric acid accumulates in the brain and other tissues, causing damage over time.

Symptoms of L-2-hydroxyglutaric aciduria

The symptoms of L-2-hydroxyglutaric aciduria can vary widely and may include:

• Delayed development
• Seizures
• Muscle weakness and stiffness
• Intellectual disability
• Movement disorders
• Speech difficulties
• Behavioral problems
• Vision and hearing problems

The severity of symptoms can also vary, even among people with the same genetic mutation.

Diagnosis of L-2-hydroxyglutaric aciduria

L-2-hydroxyglutaric aciduria is typically diagnosed through genetic testing, which can identify mutations in the L2HGDH gene. Other tests, such as magnetic resonance imaging (MRI) and spectroscopy (MRS), can help to confirm the diagnosis and assess the extent of brain damage.

L2HGDH Gene L-2-hydroxyglutaric aciduria NGS Genetic DNA Test

The L2HGDH gene L-2-hydroxyglutaric aciduria NGS genetic DNA test is a type of genetic testing that uses next-generation sequencing (NGS) technology to analyze the L2HGDH gene. This test can identify mutations in the gene that cause L-2-hydroxyglutaric aciduria, allowing for an accurate diagnosis of the condition.

Cost of L2HGDH Gene L-2-hydroxyglutaric aciduria NGS Genetic DNA Test

The cost of the L2HGDH gene L-2-hydroxyglutaric aciduria NGS genetic DNA test can vary depending on the testing facility and location. In India, the cost of the test is typically around INR 20,000.

Conclusion

L-2-hydroxyglutaric aciduria is a rare genetic disorder that can cause a range of symptoms, including delayed development, seizures, and intellectual disability. The L2HGDH gene L-2-hydroxyglutaric aciduria NGS genetic DNA test is a useful tool for diagnosing the condition and identifying the specific genetic mutation that is responsible. If you or a loved one is experiencing symptoms of L-2-hydroxyglutaric aciduria, talk to your doctor about whether genetic testing may be appropriate.