Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC25A4 gene for Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal dominant

PreTest Information

Clinical History of Patient who is going for SLC25A4 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC25A4 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal dominant

Detail Description

SLC25A4 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2, Autosomal Dominant NGS Genetic DNA Test

Progressive external ophthalmoplegia (PEO) with mitochondrial deletions type 2 is a rare genetic disorder that affects the muscles that control eye movement and other skeletal muscles. This disorder is caused by mutations in the SLC25A4 gene, which encodes for a protein called adenine nucleotide translocator 1 (ANT1) that is involved in the transport of ATP, the main source of energy for cells, across the mitochondrial inner membrane.

Symptoms

The symptoms of PEO with mitochondrial deletions type 2 typically begin in adulthood and gradually worsen over time. The most common symptom is weakness of the eye muscles, which leads to drooping eyelids (ptosis) and difficulty moving the eyes (ophthalmoplegia). Other symptoms may include:

• Muscle weakness in the arms and legs
• Difficulty swallowing (dysphagia)
• Difficulty speaking (dysarthria)
• Generalized weakness and fatigue

Diagnosis

PEO with mitochondrial deletions type 2 is diagnosed based on clinical symptoms and genetic testing. A muscle biopsy may be performed to confirm the diagnosis and to assess the extent of mitochondrial DNA deletions. Genetic testing can identify mutations in the SLC25A4 gene.

NGS Genetic DNA Test

The SLC25A4 gene PEO with mitochondrial deletions type 2 NGS genetic DNA test is a next-generation sequencing (NGS) test that identifies mutations in the SLC25A4 gene. This test is performed on a blood or saliva sample and can detect both inherited and de novo mutations. The cost of this test is INR 20000.

Conclusion

PEO with mitochondrial deletions type 2 is a rare genetic disorder that affects the muscles that control eye movement and other skeletal muscles. The SLC25A4 gene PEO with mitochondrial deletions type 2 NGS genetic DNA test is a valuable tool for the diagnosis of this disorder. Early diagnosis can lead to appropriate management and treatment of symptoms.

At DNA Labs India, we offer a wide range of genetic testing services, including the SLC25A4 gene PEO with mitochondrial deletions type 2 NGS genetic DNA test. Our state-of-the-art laboratory facilities and experienced geneticists ensure accurate and reliable results. Contact us to learn more about our genetic testing services.

Note: This blog is for informational purposes only and should not be considered as medical advice. Please consult a healthcare professional for any medical concerns.

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 SLC25A4 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal dominant NGS Genetic DNA Test