Short Description

NGS genetic DNA test detecets for variant and mutation detection in POLG gene for Progressive external ophthalmoplegia with mitochondrial deletions type 1, autosomal dominant

PreTest Information

Clinical History of Patient who is going for POLG Gene Progressive external ophthalmoplegia with mitochondrial deletions type 1, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POLG Gene Progressive external ophthalmoplegia with mitochondrial deletions type 1, autosomal dominant

Detail Description

POLG Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 1, Autosomal Dominant NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

DNA Labs India offers the latest and most accurate genetic testing for POLG Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 1, Autosomal Dominant. This test is conducted using Next Generation Sequencing (NGS) technology and is available at a cost of INR 20000.

Symptoms of POLG Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 1, Autosomal Dominant

Progressive external ophthalmoplegia (PEO) is a rare disorder that affects the muscles that control eye movement. It is caused by mutations in the POLG gene, which is responsible for producing an enzyme called DNA polymerase gamma. This enzyme is essential for the replication and repair of mitochondrial DNA.

The symptoms of PEO include:

• Weakness in the eye muscles
• Drooping eyelids
• Double vision
• Difficulty moving the eyes
• Difficulty swallowing
• Muscle weakness
• Fatigue
• Exercise intolerance
• Loss of sensation and coordination in the limbs

Diagnosis of POLG Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 1, Autosomal Dominant

The diagnosis of PEO is usually made based on the patient's symptoms and a physical examination. A blood test can be done to look for mutations in the POLG gene. In some cases, a muscle biopsy may be necessary to confirm the diagnosis.

NGS Genetic DNA Test for POLG Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 1, Autosomal Dominant

DNA Labs India offers a highly accurate and reliable NGS genetic DNA test for PEO caused by mutations in the POLG gene. This test can detect all known mutations in the POLG gene and can provide a definitive diagnosis for patients with PEO.

The cost of this test is INR 20000, and results are typically available within two weeks. The test can be done using a blood or saliva sample, and it is non-invasive and painless.

Conclusion

If you or someone you know is experiencing symptoms of PEO, it is important to seek medical attention as soon as possible. The NGS genetic DNA test for PEO caused by mutations in the POLG gene offered by DNA Labs India is a highly accurate and reliable way to diagnose this rare disorder. Contact DNA Labs India today to schedule an appointment or learn more about this test.

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 POLG Gene Progressive external ophthalmoplegia with mitochondrial deletions type 1, autosomal dominant NGS Genetic DNA Test