Short Description

NGS genetic DNA test detecets for variant and mutation detection in BCS1L gene for Mitochondrial complex III deficiency

PreTest Information

Clinical History of Patient who is going for BCS1L Gene Mitochondrial complex III deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with BCS1L Gene Mitochondrial complex III deficiency

Detail Description

BCS1L Gene Mitochondrial Complex III Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

BCS1L gene mitochondrial complex III deficiency is a rare genetic disorder that affects the energy production in cells. The mitochondria are responsible for producing energy in the form of ATP, which is required for the normal functioning of cells and tissues. Mitochondrial complex III deficiency is caused by mutations in the BCS1L gene, which codes for a protein involved in the assembly of complex III.

Symptoms

The symptoms of mitochondrial complex III deficiency can vary widely depending on the severity of the condition and the specific mutations involved. Some of the common symptoms include:

• Developmental delays
• Muscle weakness and fatigue
• Difficulty breathing
• Seizures
• Abnormalities in the nervous system

Diagnosis

Diagnosis of mitochondrial complex III deficiency typically involves a combination of clinical evaluation, biochemical testing, and genetic testing. Blood and urine tests may be used to evaluate mitochondrial function and detect abnormalities in energy metabolism. Genetic testing, such as NGS genetic DNA testing, can identify mutations in the BCS1L gene and confirm the diagnosis.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for BCS1L gene mitochondrial complex III deficiency at DNA Labs India is INR 20000.

NGS genetic DNA testing uses advanced sequencing technology to analyze the entire genome and identify genetic variations that may be associated with the condition. This type of testing is highly sensitive and can detect even small genetic changes that may be missed by other types of genetic testing.

If you suspect that you or someone you know may have mitochondrial complex III deficiency, it is important to consult with a qualified healthcare provider and consider genetic testing to confirm the diagnosis and develop an appropriate treatment plan.

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 BCS1L Gene Mitochondrial complex III deficiency NGS Genetic DNA Test