Short Description

NGS genetic DNA test detecets for variant and mutation detection in NDUFS6 gene for Mitochondrial complex I deficiency

PreTest Information

Clinical History of Patient who is going for NDUFS6 Gene Mitochondrial complex I deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NDUFS6 Gene Mitochondrial complex I deficiency

Detail Description

NDUFS6 Gene Mitochondrial Complex I Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

NDUFS6 gene is a mitochondrial gene that encodes a subunit of the complex I protein in the electron transport chain. Complex I is responsible for the first step of oxidative phosphorylation, which generates energy for the cells. Mitochondrial complex I deficiency caused by mutations in the NDUFS6 gene is a rare genetic disorder that affects the functioning of mitochondria. This disorder can lead to a range of symptoms, including muscle weakness, developmental delay, seizures, and intellectual disability.

Symptoms of NDUFS6 Gene Mitochondrial Complex I Deficiency

The symptoms of NDUFS6 gene mitochondrial complex I deficiency can vary widely, depending on the severity of the condition. Some of the common symptoms include:

• Muscle weakness
• Developmental delay
• Seizures
• Intellectual disability
• Abnormal muscle tone
• Visual impairment
• Hearing loss
• Encephalopathy
• Respiratory distress

It is important to note that not all individuals with NDUFS6 gene mitochondrial complex I deficiency will experience all of these symptoms. Some individuals may only experience a few of these symptoms, while others may experience all of them.

Diagnosis of NDUFS6 Gene Mitochondrial Complex I Deficiency

The diagnosis of NDUFS6 gene mitochondrial complex I deficiency is typically made through a combination of clinical evaluation, biochemical testing, and genetic testing. Clinical evaluation involves a physical examination and a review of the patient's medical history and symptoms. Biochemical testing involves measuring the levels of various enzymes and metabolites in the blood and urine. Genetic testing involves analyzing the patient's DNA to look for mutations in the NDUFS6 gene.

NGS Genetic DNA Test Cost for NDUFS6 Gene Mitochondrial Complex I Deficiency

NGS genetic DNA testing for NDUFS6 gene mitochondrial complex I deficiency typically costs around INR 20000. This test involves sequencing the patient's DNA to identify any mutations in the NDUFS6 gene. The results of this test can help confirm a diagnosis of NDUFS6 gene mitochondrial complex I deficiency and can also provide information about the severity of the condition.

Conclusion

NDUFS6 gene mitochondrial complex I deficiency is a rare genetic disorder that can cause a range of symptoms, including muscle weakness, developmental delay, seizures, and intellectual disability. The condition is caused by mutations in the NDUFS6 gene, which encodes a subunit of the complex I protein in the electron transport chain. Diagnosis of NDUFS6 gene mitochondrial complex I deficiency typically involves a combination of clinical evaluation, biochemical testing, and genetic testing. NGS genetic DNA testing for NDUFS6 gene mitochondrial complex I deficiency typically costs around INR 20000.

If you suspect that you or a loved one may have NDUFS6 gene mitochondrial complex I deficiency, it is important to speak with a healthcare professional. They can help provide a diagnosis and develop a treatment plan tailored to your specific needs.

At DNA Labs India, we offer NGS genetic DNA testing for NDUFS6 gene mitochondrial complex I deficiency and a range of other genetic disorders. Contact us today to learn more.