Short Description

NGS genetic DNA test detecets for variant and mutation detection in RRM2B gene for Progressive external ophthalmoplegia with mitochondrial deletions type 5, autosomal dominant

PreTest Information

Clinical History of Patient who is going for RRM2B Gene Progressive external ophthalmoplegia with mitochondrial deletions type 5, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RRM2B Gene Progressive external ophthalmoplegia with mitochondrial deletions type 5, autosomal dominant

Detail Description

RRM2B Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 5, Autosomal Dominant NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Progressive external ophthalmoplegia (PEO) is a rare genetic disorder that affects the muscles that control eye movement. Mitochondrial deletions type 5, autosomal dominant (PEO-A) is a subtype of PEO that is caused by mutations in the RRM2B gene. This gene provides instructions for making a protein that is essential for the replication of mitochondrial DNA.

PEO-A is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated RRM2B gene from one parent to develop the condition. Symptoms of PEO-A usually appear in adulthood, and they can include:

• Weakness in the muscles that control eye movement
• Drooping eyelids (ptosis)
• Difficulty moving the eyes in different directions (ophthalmoplegia)
• Weakness in other muscles, such as those in the arms and legs

The diagnosis of PEO-A involves a variety of tests, including:

• A physical exam to assess muscle strength and eye movement
• Blood tests to measure the levels of certain enzymes that are released when muscle tissue is damaged
• An electromyogram (EMG) to measure the electrical activity of muscles
• An MRI or CT scan to look for evidence of muscle damage
• A muscle biopsy to examine muscle tissue under a microscope

NGS genetic DNA testing is a powerful tool for diagnosing PEO-A. This test uses next-generation sequencing technology to analyze a person's DNA and look for mutations in the RRM2B gene. NGS testing is highly accurate and can detect mutations that other tests may miss.

The cost of an NGS genetic DNA test for PEO-A can vary depending on the provider and the specific tests that are included. At DNA Labs India, the cost of an NGS genetic DNA test for PEO-A is INR 20,000. This test includes a comprehensive analysis of the RRM2B gene and other relevant genes that may be associated with PEO.

In conclusion, PEO-A is a rare genetic disorder that can cause weakness in the muscles that control eye movement and other muscles throughout the body. Diagnosis involves a variety of tests, including NGS genetic DNA testing, which is highly accurate and can detect mutations that other tests may miss. The cost of an NGS genetic DNA test for PEO-A at DNA Labs India is INR 20,000.

If you suspect that you or a loved one may have PEO-A, it is important to seek medical attention and talk to a genetic counselor about the best course of action.

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 RRM2B Gene Progressive external ophthalmoplegia with mitochondrial deletions type 5, autosomal dominant NGS Genetic DNA Test