Short Description

NGS genetic DNA test detecets for variant and mutation detection in TIMM21 gene for Mitochondrial respiratory chain disease, TIMM21 related

PreTest Information

Clinical History of Patient who is going for TIMM21 Gene Mitochondrial respiratory chain disease, TIMM21 related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TIMM21 Gene Mitochondrial respiratory chain disease, TIMM21 related

Detail Description

Understanding TIMM21 Gene and Mitochondrial Respiratory Chain Disease

Tim23, also known as translocase of the inner mitochondrial membrane 21, is a gene that encodes a mitochondrial protein. It plays a crucial role in the import of proteins into the inner mitochondrial membrane. Any mutations in this gene can lead to severe mitochondrial respiratory chain disease.

Mitochondria are the powerhouse of the cells that generate energy for the body. The respiratory chain is a series of proteins and enzymes located in the inner mitochondrial membrane that produce energy by converting food into ATP. Any dysfunction in the respiratory chain can lead to mitochondrial diseases.

Symptoms of TIMM21 Gene Mitochondrial Respiratory Chain Disease

The symptoms of TIMM21 gene mitochondrial respiratory chain disease can vary depending on the severity of the condition. Some of the common symptoms include:

• Seizures
• Developmental delays
• Muscle weakness
• Cardiomyopathy
• Liver disease
• Kidney disease
• Visual and hearing impairments
• Respiratory problems

Diagnosis of TIMM21 Gene Mitochondrial Respiratory Chain Disease

Diagnosis of TIMM21 gene mitochondrial respiratory chain disease involves a combination of clinical evaluation, genetic testing, and biochemical testing. The healthcare provider will evaluate the patient's medical history, symptoms, and physical examination. Blood and urine tests can also help in detecting the underlying mitochondrial disease.

Genetic testing is the most reliable way to diagnose TIMM21 gene mitochondrial respiratory chain disease. Next-generation sequencing (NGS) genetic testing can identify the specific genetic mutation responsible for the condition.

TIMM21 Related NGS Genetic DNA Test Cost in India

The cost of TIMM21 related NGS genetic DNA testing in India can vary depending on the laboratory and the location. On average, the cost of NGS genetic DNA testing in India ranges from INR 15,000 to INR 25,000. DNA Labs India offers TIMM21 related NGS genetic DNA testing at an affordable cost of INR 20,000.

Conclusion

TIMM21 gene mitochondrial respiratory chain disease is a rare genetic disorder that affects the energy-producing mitochondria. Early diagnosis and treatment are crucial for managing the symptoms and preventing complications. DNA Labs India offers TIMM21 related NGS genetic DNA testing at an affordable cost, making it accessible to everyone. Contact DNA Labs India for more information on genetic testing and how it can help in diagnosing and managing mitochondrial diseases.

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 TIMM21 Gene Mitochondrial respiratory chain disease, TIMM21 related NGS Genetic DNA Test