Short Description

NGS genetic DNA test detecets for variant and mutation detection in TUFM gene for Combined oxidative phosphorylation deficiency type 4

PreTest Information

Clinical History of Patient who is going for TUFM Gene Combined oxidative phosphorylation deficiency type 4 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 4

Detail Description

TUFM Gene Combined Oxidative Phosphorylation Deficiency Type 4 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

DNA Labs India offers a comprehensive genetic DNA test for TUFM gene combined oxidative phosphorylation deficiency type 4. This genetic disorder affects the mitochondria, which are responsible for producing energy for the body. It is caused by mutations in the TUFM gene, which provides instructions for making a protein involved in the production of ATP, the primary energy source for cells.

Symptoms of TUFM Gene Combined Oxidative Phosphorylation Deficiency Type 4

The symptoms of TUFM gene combined oxidative phosphorylation deficiency type 4 can vary widely depending on the severity of the condition and the age of onset. Common symptoms include:

• Muscle weakness and wasting
• Poor muscle tone
• Vision loss
• Hearing loss
• Movement disorders
• Developmental delay
• Intellectual disability

Some individuals with TUFM gene combined oxidative phosphorylation deficiency type 4 may also experience seizures, breathing difficulties, and heart abnormalities.

Diagnosis of TUFM Gene Combined Oxidative Phosphorylation Deficiency Type 4

Diagnosis of TUFM gene combined oxidative phosphorylation deficiency type 4 typically involves a combination of clinical evaluation, imaging studies, and genetic testing. Imaging studies may include MRI and CT scans to evaluate the brain and muscles. Genetic testing can confirm a diagnosis by identifying mutations in the TUFM gene.

NGS Genetic DNA Test for TUFM Gene Combined Oxidative Phosphorylation Deficiency Type 4

The NGS genetic DNA test for TUFM gene combined oxidative phosphorylation deficiency type 4 offered by DNA Labs India is a comprehensive genetic analysis that can identify mutations in the TUFM gene. This test uses next-generation sequencing technology to analyze the entire TUFM gene and can detect both known and novel mutations.

The cost of the NGS genetic DNA test for TUFM gene combined oxidative phosphorylation deficiency type 4 is INR 20,000.

Conclusion

TUFM gene combined oxidative phosphorylation deficiency type 4 is a rare genetic disorder that affects the mitochondria and can cause a wide range of symptoms. Diagnosis typically involves a combination of clinical evaluation, imaging studies, and genetic testing. The NGS genetic DNA test for TUFM gene combined oxidative phosphorylation deficiency type 4 offered by DNA Labs India is a comprehensive genetic analysis that can identify mutations in the TUFM gene and help confirm a diagnosis. The cost of this test is INR 20,000.

If you suspect you or a loved one may have TUFM gene combined oxidative phosphorylation deficiency type 4, it is important to speak with a healthcare provider to discuss testing options and potential treatment options.

Contact DNA Labs India today to learn more about our genetic testing services and how we can help you get the answers you need.