Short Description

NGS genetic DNA test detecets for variant and mutation detection in NDUFAF4 gene for Mitochondrial complex I deficiency

PreTest Information

Clinical History of Patient who is going for NDUFAF4 Gene Mitochondrial complex I deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NDUFAF4 Gene Mitochondrial complex I deficiency

Detail Description

NDUFAF4 Gene Mitochondrial Complex I Deficiency NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

DNA Labs India is a leading diagnostic laboratory that offers a wide range of genetic tests. One such test is the NDUFAF4 Gene Mitochondrial Complex I Deficiency NGS Genetic DNA Test. In this blog post, we will discuss the symptoms, diagnosis, and cost of this genetic test.

What is NDUFAF4 Gene Mitochondrial Complex I Deficiency?

NDUFAF4 Gene Mitochondrial Complex I Deficiency is a rare genetic disorder that affects the mitochondria, which are the energy-producing structures in cells. This disorder is caused by mutations in the NDUFAF4 gene, which encodes a protein that is necessary for the proper function of complex I of the mitochondrial respiratory chain.

Complex I is the first step in the process of generating energy in the form of ATP (adenosine triphosphate) in the mitochondria. When complex I is not functioning properly, it can lead to a buildup of toxic byproducts and a decrease in ATP production, which can cause a variety of symptoms.

Symptoms of NDUFAF4 Gene Mitochondrial Complex I Deficiency

The symptoms of NDUFAF4 Gene Mitochondrial Complex I Deficiency can vary depending on the severity of the condition and the age of onset. Some of the common symptoms include:

• Muscle weakness
• Lactic acidosis (a buildup of lactic acid in the body)
• Developmental delay
• Intellectual disability
• Seizures
• Cardiomyopathy (heart muscle disease)

Diagnosis of NDUFAF4 Gene Mitochondrial Complex I Deficiency

The diagnosis of NDUFAF4 Gene Mitochondrial Complex I Deficiency is typically made through genetic testing. Specifically, a next-generation sequencing (NGS) genetic test can be used to identify mutations in the NDUFAF4 gene. This test can be performed on a blood sample or a cheek swab.

If a mutation is identified, additional testing may be necessary to confirm the diagnosis and assess the severity of the condition. This may include a muscle biopsy to look for signs of mitochondrial dysfunction or additional genetic testing to look for other mutations that may be contributing to the symptoms.

Cost of NDUFAF4 Gene Mitochondrial Complex I Deficiency NGS Genetic DNA Test

The cost of the NDUFAF4 Gene Mitochondrial Complex I Deficiency NGS Genetic DNA Test at DNA Labs India is INR 20000. This test is not typically covered by insurance, so patients should be prepared to pay out of pocket.

While the cost of genetic testing may seem high, it is important to remember that a correct diagnosis can be invaluable in terms of guiding treatment and helping patients and families understand the underlying cause of their symptoms.

Conclusion

NDUFAF4 Gene Mitochondrial Complex I Deficiency is a rare genetic disorder that can cause a variety of symptoms. A next-generation sequencing genetic test can be used to diagnose this condition, and the cost of the test at DNA Labs India is INR 20000. If you or a loved one is experiencing symptoms of NDUFAF4 Gene Mitochondrial Complex I Deficiency, talk to your doctor about whether genetic testing may be appropriate.

At DNA Labs India, we are committed to providing accurate and timely genetic testing services to our patients. Contact us today to learn more about our services or to schedule a consultation.

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 NDUFAF4 Gene Mitochondrial complex I deficiency NGS Genetic DNA Test