Short Description

NGS genetic DNA test detecets for variant and mutation detection in GFM1 gene for Combined oxidative phosphorylation deficiency type 1

PreTest Information

Clinical History of Patient who is going for GFM1 Gene Combined oxidative phosphorylation deficiency type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 1

Detail Description

Understanding GFM1 Gene Combined Oxidative Phosphorylation Deficiency Type 1: Symptoms, Diagnosis and NGS Genetic DNA Test Cost in India

GFM1 gene combined oxidative phosphorylation deficiency type 1 is a rare genetic disorder that affects the function of mitochondria in the body. It is caused by mutations in the GFM1 gene, which provides instructions for making a protein that is essential for the production of energy in cells. This disorder can cause a range of symptoms, including muscle weakness, developmental delays, and seizures. In this blog post, we will explore the symptoms, diagnosis, and NGS genetic DNA test cost in India for GFM1 gene combined oxidative phosphorylation deficiency type 1.

Symptoms of GFM1 Gene Combined Oxidative Phosphorylation Deficiency Type 1

The symptoms of GFM1 gene combined oxidative phosphorylation deficiency type 1 can vary widely from person to person. Some individuals may experience only mild symptoms, while others may have severe symptoms that significantly impact their daily lives. Some of the most common symptoms of this disorder include:

• Muscle weakness and wasting
• Developmental delays
• Seizures
• Intellectual disability
• Abnormal eye movements
• Difficulty swallowing
• Respiratory problems
• Hearing loss

These symptoms may appear in infancy or childhood, but in some cases, they may not become apparent until later in life.

Diagnosis of GFM1 Gene Combined Oxidative Phosphorylation Deficiency Type 1

Diagnosing GFM1 gene combined oxidative phosphorylation deficiency type 1 can be challenging because it is a rare disorder, and the symptoms can be similar to those of other conditions. However, there are several tests that can be used to diagnose this disorder, including:

• Genetic testing: This involves analyzing a sample of the patient's DNA to look for mutations in the GFM1 gene.
• Electromyography (EMG): This test measures the electrical activity in muscles and can help identify muscle weakness and wasting.
• Muscle biopsy: This involves taking a small sample of muscle tissue and examining it under a microscope to look for abnormalities.

If a patient is suspected of having GFM1 gene combined oxidative phosphorylation deficiency type 1, they may undergo one or more of these tests to confirm the diagnosis.

NGS Genetic DNA Test Cost in India

NGS genetic DNA testing is a powerful tool for diagnosing genetic disorders like GFM1 gene combined oxidative phosphorylation deficiency type 1. This type of testing can analyze large amounts of genetic data quickly and accurately, making it an essential tool for diagnosing rare disorders.

The cost of NGS genetic DNA testing in India can vary depending on the laboratory and the specific test being performed. However, on average, the cost of NGS genetic DNA testing for GFM1 gene combined oxidative phosphorylation deficiency type 1 is around INR 20,000. It is important to note that this cost may not include additional fees for consultation with a genetic counselor or other healthcare professionals.

Conclusion

GFM1 gene combined oxidative phosphorylation deficiency type 1 is a rare genetic disorder that can cause a range of symptoms, including muscle weakness, developmental delays, and seizures. Diagnosing this disorder can be challenging, but genetic testing and other diagnostic tools can help confirm the diagnosis. NGS genetic DNA testing is an essential tool for diagnosing rare genetic disorders like GFM1 gene combined oxidative phosphorylation deficiency type 1, and the cost of this testing in India is around INR 20,000. If you or a loved one is experiencing symptoms of this disorder, it is essential to speak with a healthcare professional to determine the best course of action.

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 GFM1 Gene Combined oxidative phosphorylation deficiency type 1 NGS Genetic DNA Test