Short Description

NGS genetic DNA test detecets for variant and mutation detection in NDUFAF1 gene for Leigh syndrome

PreTest Information

Clinical History of Patient who is going for NDUFAF1 Gene Leigh syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NDUFAF1 Gene Leigh syndrome

Detail Description

DNA Labs India: NDUFAF1 Gene Leigh Syndrome NGS Genetic DNA Test Cost INR 20,000 Symptoms Diagnosis

Leigh syndrome is a rare genetic disorder that affects the central nervous system. It is caused by mutations in genes that are involved in energy production in cells. One such gene is NDUFAF1, which encodes a protein involved in complex I of the mitochondrial respiratory chain. Mutations in this gene can lead to Leigh syndrome.

Symptoms of Leigh Syndrome

The symptoms of Leigh syndrome can vary from person to person. Some common symptoms include:

• Delayed development
• Loss of previously acquired skills
• Weakness
• Poor coordination
• Seizures
• Respiratory failure

These symptoms can appear in infancy or early childhood and can worsen over time. In some cases, the disease can be fatal.

Diagnosis of Leigh Syndrome

Diagnosis of Leigh syndrome usually involves a combination of clinical evaluation, imaging studies, and genetic testing. Brain MRI can reveal characteristic changes in the basal ganglia and brainstem. Genetic testing can identify mutations in genes associated with Leigh syndrome, including NDUFAF1.

NGS Genetic DNA Test Cost INR 20,000

DNA Labs India offers NGS Genetic DNA testing for Leigh syndrome caused by mutations in the NDUFAF1 gene. This test uses next-generation sequencing (NGS) technology to analyze the entire coding region of the NDUFAF1 gene. The cost of this test is INR 20,000.

The test requires a blood sample from the patient, which is sent to the laboratory for analysis. The results of the test can help confirm a diagnosis of Leigh syndrome and identify the specific genetic mutation responsible for the disease.

Conclusion

Leigh syndrome is a rare and serious genetic disorder that can be caused by mutations in the NDUFAF1 gene. DNA Labs India offers NGS Genetic DNA testing for Leigh syndrome caused by mutations in this gene at a cost of INR 20,000. Early diagnosis and genetic testing can help provide better management and treatment options for patients with Leigh syndrome.

If you suspect that you or someone you know may have Leigh syndrome, it is important to consult a healthcare professional for evaluation and testing.

For more information about NGS Genetic DNA testing for Leigh syndrome, please contact DNA Labs India.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for NDUFAF1 Gene Leigh syndrome NGS Genetic DNA Test