Short Description

NGS genetic DNA test detecets for variant and mutation detection in TSFM gene for Combined oxidative phosphorylation deficiency type 3

PreTest Information

Clinical History of Patient who is going for TSFM Gene Combined oxidative phosphorylation deficiency type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 3

Detail Description

TSFM Gene Combined Oxidative Phosphorylation Deficiency Type 3 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

TSFM gene combined oxidative phosphorylation deficiency type 3 is a rare genetic disorder that affects the mitochondria, which are the energy-producing structures within the cells. This disorder is caused by mutations in the TSFM gene, which provides instructions for making a protein that is important for the assembly of mitochondrial ribosomes.

Individuals with TSFM gene combined oxidative phosphorylation deficiency type 3 may experience a wide range of symptoms, including:

• Developmental delays
• Muscle weakness
• Difficulty swallowing
• Respiratory problems
• Heart abnormalities
• Seizures

Diagnosis of TSFM gene combined oxidative phosphorylation deficiency type 3 is typically done through genetic testing, specifically through next-generation sequencing (NGS) genetic DNA testing. This type of testing looks for mutations in the TSFM gene and can confirm a diagnosis of TSFM gene combined oxidative phosphorylation deficiency type 3.

If you or a loved one is experiencing symptoms of TSFM gene combined oxidative phosphorylation deficiency type 3, it is important to speak with a medical professional. They can help determine if genetic testing is necessary and provide guidance on next steps.

DNA Labs India offers TSFM gene combined oxidative phosphorylation deficiency type 3 NGS genetic DNA testing at a cost of INR:20000. This test can provide important information for diagnosis and treatment planning.

Don't wait to get the answers you need. Contact DNA Labs India today to learn more about TSFM gene combined oxidative phosphorylation deficiency type 3 NGS genetic DNA 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 TSFM Gene Combined oxidative phosphorylation deficiency type 3 NGS Genetic DNA Test