Short Description

NGS genetic DNA test detecets for variant and mutation detection in NDUFA2 gene for Leigh syndrome

PreTest Information

Clinical History of Patient who is going for NDUFA2 Gene Leigh syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NDUFA2 Gene Leigh syndrome

Detail Description

NDUFA2 Gene Leigh Syndrome NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Leigh syndrome is a rare genetic disorder that affects the central nervous system. The disease is named after Dr. Archibald Denis Leigh, who first described the condition in 1951. The disease is caused by mutations in the mitochondrial DNA or nuclear DNA. NDUFA2 is one of the nuclear genes that are associated with Leigh syndrome. In this blog, we will discuss the NDUFA2 gene, Leigh syndrome, its symptoms, diagnosis, and the cost of the NGS genetic DNA test in India.

NDUFA2 Gene

The NDUFA2 gene is located on chromosome 18 and encodes a subunit of complex I of the mitochondrial respiratory chain. Complex I is the first complex in the electron transport chain, which is responsible for generating energy in the form of ATP. Mutations in the NDUFA2 gene can cause Leigh syndrome, which is characterized by progressive neurological symptoms.

Leigh Syndrome

Leigh syndrome is a progressive neurological disorder that typically begins in infancy or early childhood. The disease is caused by mutations in mitochondrial or nuclear DNA that affect the function of the mitochondrial respiratory chain. As a result, the affected cells cannot generate enough energy, which leads to cell death and progressive neurological symptoms.

Symptoms of Leigh Syndrome

The symptoms of Leigh syndrome can vary widely depending on the affected individual. Some of the common symptoms include:

• Developmental delay
• Weakness and fatigue
• Poor feeding and vomiting
• Seizures
• Loss of motor skills
• Respiratory failure
• Visual and hearing impairment

Diagnosis of Leigh Syndrome

The diagnosis of Leigh syndrome involves a combination of clinical evaluation, laboratory tests, and imaging studies. The clinical evaluation may include a thorough medical history, physical examination, and neurological assessment. Laboratory tests may include blood tests, urine tests, and genetic testing to identify mutations in mitochondrial or nuclear DNA. Imaging studies such as MRI and CT scans may also be performed to evaluate the brain and other organs.

NGS Genetic DNA Test Cost in India

The cost of the NGS genetic DNA test for Leigh syndrome in India may vary depending on the laboratory and location. However, on average, the cost of the test may range from INR 15,000 to INR 25,000. It is important to note that some insurance companies may cover the cost of genetic testing, so it is always recommended to check with your insurance provider before undergoing any genetic testing.

Conclusion

Leigh syndrome is a rare genetic disorder that can be caused by mutations in the NDUFA2 gene. The disease is characterized by progressive neurological symptoms that can be diagnosed through a combination of clinical evaluation, laboratory tests, and imaging studies. The cost of the NGS genetic DNA test for Leigh syndrome in India may vary, but it is an important tool for early diagnosis and management of the disease. If you suspect that you or a family member may have Leigh syndrome, it is important to consult a genetic counselor or healthcare professional for further evaluation and testing.

For more information on genetic testing and DNA labs in India, visit 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 NDUFA2 Gene Leigh syndrome NGS Genetic DNA Test