Short Description

NGS genetic DNA test detecets for variant and mutation detection in POLG2 gene for Progressive external ophthalmoplegia with mitochondrial deletions type 4, autosomal dominant

PreTest Information

Clinical History of Patient who is going for POLG2 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 4, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POLG2 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 4, autosomal dominant

Detail Description

POLG2 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 4, Autosomal Dominant NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Progressive external ophthalmoplegia (PEO) is a rare genetic disorder that affects the muscles that control eye movement. It is characterized by weakness in the muscles that control eye movement, resulting in drooping eyelids and difficulty moving the eyes. PEO can be caused by mutations in several different genes, including the POLG2 gene.

What is the POLG2 Gene?

The POLG2 gene provides instructions for making a protein called DNA polymerase gamma B. This protein is involved in the replication and repair of mitochondrial DNA, which is the DNA found in the mitochondria of cells. Mitochondria are the energy-producing structures within cells, and they have their own DNA separate from the DNA in the cell nucleus.

When the POLG2 gene is mutated, it can lead to a decrease in the amount or function of DNA polymerase gamma B, which can result in mitochondrial DNA damage and dysfunction. This can lead to a variety of health problems, including PEO.

PEO with Mitochondrial Deletions Type 4, Autosomal Dominant

PEO with mitochondrial deletions type 4, autosomal dominant is a form of PEO that is caused by mutations in the POLG2 gene. It is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from one parent in order to develop the condition.

Symptoms of PEO with mitochondrial deletions type 4, autosomal dominant can include:

• Drooping eyelids (ptosis)
• Difficulty moving the eyes (ophthalmoplegia)
• Muscle weakness and wasting
• Fatigue
• Difficulty swallowing (dysphagia)
• Hearing loss
• Speech difficulties

Diagnosis

PEO with mitochondrial deletions type 4, autosomal dominant can be diagnosed through genetic testing. A NGS genetic DNA test can be used to identify mutations in the POLG2 gene. This test analyzes the entire coding region of the gene and can detect both known and novel mutations.

The cost of a NGS genetic DNA test for PEO with mitochondrial deletions type 4, autosomal dominant at DNA Labs India is INR 20,000.

Conclusion

PEO with mitochondrial deletions type 4, autosomal dominant is a rare genetic disorder that can cause weakness in the muscles that control eye movement, as well as other health problems. It is caused by mutations in the POLG2 gene and can be diagnosed through genetic testing. The cost of a NGS genetic DNA test for PEO with mitochondrial deletions type 4, autosomal dominant at DNA Labs India is INR 20,000. If you or a loved one are experiencing symptoms of PEO, it is important to talk to a healthcare provider and consider genetic testing.

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 POLG2 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 4, autosomal dominant NGS Genetic DNA Test