Short Description

NGS genetic DNA test detecets for variant and mutation detection in NDUFAF6 gene for Leigh syndrome

PreTest Information

Clinical History of Patient who is going for NDUFAF6 Gene Leigh syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NDUFAF6 Gene Leigh syndrome

Detail Description

NDUFAF6 Gene Leigh Syndrome NGS Genetic DNA Test Cost INR 20,000: Symptoms and Diagnosis

Leigh syndrome is a rare and severe neurological disorder that usually appears in infancy or early childhood. It is caused by a dysfunction in the mitochondria, which are responsible for producing energy in our cells. Leigh syndrome can be caused by mutations in different genes, including the NDUFAF6 gene.

The NDUFAF6 gene provides instructions to make a protein that is essential for the function of complex I, one of the five complexes that make up the mitochondrial respiratory chain. Mutations in the NDUFAF6 gene can lead to a deficiency in complex I and a buildup of lactic acid in the body, which can cause damage to the brain and other organs.

The symptoms of Leigh syndrome can vary depending on the age of onset and the severity of the disease. However, some of the most common symptoms include:

• Developmental delays
• Weakness
• Poor feeding and vomiting
• Seizures
• Respiratory problems
• Loss of motor control
• Optic atrophy
• Encephalopathy

Diagnosing Leigh syndrome can be challenging because the symptoms can be similar to other neurological disorders. However, genetic testing can help identify mutations in the NDUFAF6 gene and confirm a diagnosis of Leigh syndrome.

Next-generation sequencing (NGS) is a powerful tool that can analyze multiple genes simultaneously and detect mutations that may be missed by other methods. DNA Labs India offers an NGS genetic DNA test for Leigh syndrome that includes analysis of the NDUFAF6 gene. The cost of this test is INR 20,000.

Getting a diagnosis of Leigh syndrome as early as possible is crucial for providing appropriate treatment and support. If you or a loved one is experiencing symptoms of Leigh syndrome, talk to your healthcare provider about genetic testing.

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 NDUFAF6 Gene Leigh syndrome NGS Genetic DNA Test