Short Description

NGS genetic DNA test detecets for variant and mutation detection in NDUFAF2 gene for Leigh syndrome

PreTest Information

Clinical History of Patient who is going for NDUFAF2 Gene Leigh syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NDUFAF2 Gene Leigh syndrome

Detail Description

NDUFAF2 Gene Leigh Syndrome NGS Genetic DNA Test Cost INR 20,000: Symptoms, Diagnosis

Leigh Syndrome is a severe neurological disorder that typically arises in infancy or early childhood. The disease causes progressive damage to the central nervous system, leading to motor and intellectual disabilities, seizures, and respiratory problems. Leigh Syndrome is caused by mutations in several genes that encode proteins involved in cellular energy production. One such gene is NDUFAF2, which encodes a protein that helps assemble a critical component of the mitochondrial respiratory chain.

NDUFAF2 Gene Leigh Syndrome can be diagnosed through a Next-Generation Sequencing (NGS) Genetic DNA Test. This test is a comprehensive genetic analysis that can identify all known mutations in the NDUFAF2 gene and other genes associated with Leigh Syndrome. The test involves collecting a small sample of DNA from the patient, usually through a blood sample or cheek swab, which is then analyzed in a laboratory.

Symptoms of NDUFAF2 Gene Leigh Syndrome

The symptoms of Leigh Syndrome can vary widely, depending on the specific genetic mutation and the age of onset. However, some common symptoms of NDUFAF2 Gene Leigh Syndrome may include:

• Developmental delays
• Seizures
• Weakness and loss of muscle tone
• Poor appetite and weight loss
• Irritability and behavioral changes
• Respiratory problems

NDUFAF2 Gene Leigh Syndrome is a rare disease, and its symptoms may overlap with other neurological disorders. Therefore, a proper diagnosis is essential to provide appropriate treatment and support to the patient.

Diagnosis of NDUFAF2 Gene Leigh Syndrome

The diagnosis of NDUFAF2 Gene Leigh Syndrome typically involves a combination of clinical evaluation, imaging studies, and genetic testing. The doctor may perform a physical exam and ask about the patient's medical history and symptoms. Imaging studies, such as MRI or CT scans, can help identify structural abnormalities in the brain that may suggest Leigh Syndrome.

However, the definitive diagnosis of NDUFAF2 Gene Leigh Syndrome requires genetic testing. The NGS Genetic DNA Test can identify all known mutations in the NDUFAF2 gene and other genes associated with Leigh Syndrome. The test can be performed on a blood sample or cheek swab, and the results usually take a few weeks to come back.

Cost of NDUFAF2 Gene Leigh Syndrome NGS Genetic DNA Test

The cost of NDUFAF2 Gene Leigh Syndrome NGS Genetic DNA Test in India is around INR 20,000. However, the cost may vary depending on the laboratory and the specific tests performed.

Conclusion

NDUFAF2 Gene Leigh Syndrome is a rare genetic disorder that can cause severe neurological problems in infants and young children. The disease can be diagnosed through a comprehensive genetic analysis, such as NGS Genetic DNA Test. The test can identify all known mutations in the NDUFAF2 gene and other genes associated with Leigh Syndrome, allowing for early diagnosis and appropriate treatment. If you suspect that your child may have Leigh Syndrome, consult a doctor or genetic counselor for proper evaluation and 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 NDUFAF2 Gene Leigh syndrome NGS Genetic DNA Test