Short Description

NGS genetic DNA test detecets for variant and mutation detection in TMEM70 gene for Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2

PreTest Information

Clinical History of Patient who is going for TMEM70 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM70 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2

Detail Description

TMEM70 Gene Mitochondrial Complex V (ATP Synthase) Deficiency: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

TMEM70 gene mitochondrial complex V (ATP synthase) deficiency is a rare genetic disorder that affects the energy-producing organelles called mitochondria in the human body. This condition is caused by mutations in the TMEM70 gene, which is responsible for encoding a protein that plays a crucial role in the assembly and function of mitochondrial complex V.

Symptoms of TMEM70 Gene Mitochondrial Complex V (ATP Synthase) Deficiency

The symptoms of TMEM70 gene mitochondrial complex V (ATP synthase) deficiency can vary widely in severity and onset, depending on the specific mutation involved. Some of the most common symptoms include:

• Severe muscle weakness
• Poor muscle tone
• Developmental delays
• Intellectual disability
• Respiratory distress
• Heart problems
• Lactic acidosis

Diagnosis of TMEM70 Gene Mitochondrial Complex V (ATP Synthase) Deficiency

Diagnosis of TMEM70 gene mitochondrial complex V (ATP synthase) deficiency usually involves a combination of clinical evaluation, genetic testing, and biochemical assays. A doctor may suspect this condition based on the presence of symptoms and a family history of the disorder. Genetic testing can confirm the diagnosis by identifying mutations in the TMEM70 gene. Biochemical assays can also be used to measure the levels of certain compounds in the blood or urine that are indicative of mitochondrial dysfunction.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for TMEM70 gene mitochondrial complex V (ATP synthase) deficiency in India is approximately INR 20,000. This test uses next-generation sequencing (NGS) technology to analyze the entire coding region of the TMEM70 gene and identify any mutations that may be present. This test can provide a definitive diagnosis of the condition and help guide treatment and management decisions.

Conclusion

TMEM70 gene mitochondrial complex V (ATP synthase) deficiency is a rare genetic disorder that can cause severe muscle weakness, developmental delays, and other serious health problems. Diagnosis of this condition typically involves a combination of clinical evaluation, genetic testing, and biochemical assays. NGS genetic DNA testing is available in India at a cost of approximately INR 20,000 and can provide a definitive diagnosis of the condition.

If you suspect that you or a loved one may have TMEM70 gene mitochondrial complex V (ATP synthase) deficiency, speak to your doctor about the possibility of genetic testing.

For more information about genetic testing and DNA labs in India, contact 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 TMEM70 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 NGS Genetic DNA Test