Short Description

NGS genetic DNA test detecets for variant and mutation detection in ISCA2 gene for Multiple mitochondrial dysfunctions syndrome type 4

PreTest Information

Clinical History of Patient who is going for ISCA2 Gene Multiple mitochondrial dysfunctions syndrome type 4 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ISCA2 Gene Multiple mitochondrial dysfunctions syndrome type 4

Detail Description

ISCA2 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 4 NGS Genetic DNA Test

ISCA2 gene multiple mitochondrial dysfunctions syndrome type 4 (MMDS4) is a rare genetic disorder that affects the mitochondria, the powerhouses of the cell. It is caused by mutations in the ISCA2 gene, which provides instructions for making a protein that is involved in the formation of iron-sulfur clusters, which are essential for the function of many proteins in the mitochondria.

MMDS4 is characterized by a wide range of symptoms, which can vary greatly from person to person. Some of the most common symptoms include:

• Developmental delay
• Intellectual disability
• Weak muscle tone (hypotonia)
• Seizures
• Abnormal eye movements (nystagmus)
• Abnormalities in the white matter of the brain (leukoencephalopathy)

The diagnosis of MMDS4 is typically made through genetic testing, specifically Next-Generation Sequencing (NGS) of the ISCA2 gene. This test allows for the detection of mutations in the gene, which can confirm a diagnosis of the disorder.

The cost of the ISCA2 gene NGS genetic DNA test in India is approximately INR 20,000. This cost may vary depending on the testing facility and any additional fees that may be associated with the test.

If you or a loved one is experiencing symptoms of MMDS4, it is important to speak with a healthcare professional to determine if genetic testing is necessary. Early diagnosis and treatment can help to manage symptoms and improve quality of life for those affected by this rare disorder.

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 ISCA2 Gene Multiple mitochondrial dysfunctions syndrome type 4 NGS Genetic DNA Test