Short Description

NGS genetic DNA test detecets for variant and mutation detection in DARS2 gene for Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation

PreTest Information

Clinical History of Patient who is going for DARS2 Gene Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with DARS2 Gene Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation

Detail Description

DARS2 Gene Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation - NGS Genetic DNA Test

DARS2 Gene Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the DARS2 gene, which provides instructions for making an enzyme called aspartyl-tRNA synthetase.

The DARS2 gene is responsible for the production of a protein that helps in the process of creating new proteins within the body. It plays a crucial role in the formation of myelin, a fatty substance that surrounds nerve fibers and helps them transmit impulses efficiently. Mutations in the DARS2 gene prevent it from functioning properly, leading to the formation of abnormal proteins and the destruction of myelin.

Symptoms of DARS2 Gene Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation

The symptoms of DARS2 Gene Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation can vary greatly among individuals. Some common symptoms include:

• Developmental delays or regression
• Weakness in the limbs or muscles
• Difficulty with balance and coordination
• Speech and language problems
• Seizures
• Vision and hearing problems
• Abnormalities in the brainstem and spinal cord
• Lactate elevation

Diagnosis of DARS2 Gene Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation

The diagnosis of DARS2 Gene Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation is typically made through genetic testing. Next-generation sequencing (NGS) genetic DNA testing is the most effective way to identify the specific genetic mutation responsible for the disorder. This test can detect mutations in the DARS2 gene with high accuracy and can help in providing an accurate diagnosis.

NGS Genetic DNA Test Cost

The cost of NGS Genetic DNA Test for DARS2 Gene Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation is INR 20,000 in DNA Labs India.

Conclusion

DARS2 Gene Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation is a rare genetic disorder that affects the central nervous system. Genetic testing, such as NGS Genetic DNA Test, is essential for an accurate diagnosis. DNA Labs India provides NGS Genetic DNA Test for DARS2 Gene Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation at an affordable cost of INR 20,000. Early diagnosis and treatment can improve the quality of life of individuals with this disorder.

If you suspect that you or a loved one may have DARS2 Gene Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation, it is important to consult a healthcare professional for appropriate genetic testing and management.