Short Description

NGS genetic DNA test detecets for variant and mutation detection in UQCC2 gene for Mitochondrial complex III deficiency, nuclear type 7

PreTest Information

Clinical History of Patient who is going for UQCC2 Gene Mitochondrial complex III deficiency, nuclear type 7 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with UQCC2 Gene Mitochondrial complex III deficiency, nuclear type 7

Detail Description

UQCC2 Gene Mitochondrial Complex III Deficiency - Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

DNA Labs India provides a comprehensive range of genetic testing services including NGS genetic DNA testing for UQCC2 gene mitochondrial complex III deficiency, nuclear type 7. This condition is caused by mutations in the UQCC2 gene and results in a deficiency in the mitochondrial complex III enzyme. This deficiency can lead to a range of symptoms including muscle weakness, developmental delay, and neurological problems.

Symptoms of UQCC2 Gene Mitochondrial Complex III Deficiency

The symptoms of UQCC2 gene mitochondrial complex III deficiency can vary widely from person to person and can include:

• Muscle weakness
• Developmental delay
• Seizures
• Neurological problems such as ataxia and dystonia
• Short stature
• Hearing loss
• Cardiac abnormalities

These symptoms can range from mild to severe and can present at any age from infancy to adulthood.

Diagnosis of UQCC2 Gene Mitochondrial Complex III Deficiency

The diagnosis of UQCC2 gene mitochondrial complex III deficiency is typically made through genetic testing. This can involve sequencing the UQCC2 gene to identify any mutations that may be present. In some cases, additional testing may be necessary to confirm the diagnosis or to rule out other possible causes of the symptoms.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for UQCC2 gene mitochondrial complex III deficiency at DNA Labs India is INR 20,000. This test provides a comprehensive analysis of the UQCC2 gene and can identify any mutations that may be present. This information can be used to confirm a diagnosis and to inform treatment decisions.

Conclusion

UQCC2 gene mitochondrial complex III deficiency is a rare genetic condition that can cause a range of symptoms including muscle weakness, developmental delay, and neurological problems. The condition is caused by mutations in the UQCC2 gene and can be diagnosed through genetic testing. NGS genetic DNA testing is available at DNA Labs India for a cost of INR 20,000. This test provides a comprehensive analysis of the UQCC2 gene and can help to confirm a diagnosis and inform treatment decisions.

If you suspect that you or a loved one may have UQCC2 gene mitochondrial complex III deficiency, it is important to speak with a healthcare professional who can provide guidance on testing and treatment options.

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 UQCC2 Gene Mitochondrial complex III deficiency, nuclear type 7 NGS Genetic DNA Test