Short Description

NGS genetic DNA test detecets for variant and mutation detection in ERCC4 gene for XFE progeroid syndrome

PreTest Information

Clinical History of Patient who is going for ERCC4 Gene XFE progeroid syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC4 Gene XFE progeroid syndrome NGS Genetic DNA Test gene ERCC4

Detail Description

ERCC4 Gene XFE Progeroid Syndrome NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Progeroid syndromes are a group of rare genetic disorders that cause accelerated aging. XFE progeroid syndrome, also known as Cockayne syndrome type II, is one of the most severe forms of progeria, with a life expectancy of only a few years. It is caused by mutations in the ERCC4 gene, which is responsible for repairing damaged DNA.

Symptoms of XFE Progeroid Syndrome

XFE progeroid syndrome is characterized by a variety of symptoms that affect multiple organ systems. These include:

• Severe growth retardation
• Developmental delays
• Microcephaly (small head size)
• Premature aging
• Skin photosensitivity
• Eye abnormalities
• Hearing loss
• Neurological abnormalities

These symptoms typically appear in early childhood and progressively worsen over time, leading to a shortened life expectancy.

Diagnosis of XFE Progeroid Syndrome

XFE progeroid syndrome is diagnosed based on clinical features and genetic testing. A physical examination may reveal characteristic facial features, such as a small jaw and a beaked nose. Imaging studies may show brain atrophy and calcifications. Blood tests may reveal anemia and abnormal liver function. Genetic testing can confirm the diagnosis by identifying mutations in the ERCC4 gene.

NGS Genetic DNA Test for XFE Progeroid Syndrome

Next-generation sequencing (NGS) is a powerful tool for identifying genetic mutations. It allows for the rapid and cost-effective analysis of large numbers of genes, making it an ideal method for diagnosing rare genetic disorders like XFE progeroid syndrome. DNA Labs India offers an NGS genetic DNA test for XFE progeroid syndrome that can detect mutations in the ERCC4 gene with high accuracy.

Cost of XFE Progeroid Syndrome NGS Genetic DNA Test

The cost of the XFE progeroid syndrome NGS genetic DNA test is INR 20,000. This includes the cost of sample collection, DNA sequencing, and interpretation of results. The test can be performed using a blood sample or a saliva sample, depending on the patient's preference.

Conclusion

XFE progeroid syndrome is a rare and devastating genetic disorder that causes premature aging and a shortened life expectancy. Early diagnosis is crucial for managing symptoms and improving quality of life. DNA Labs India offers an NGS genetic DNA test for XFE progeroid syndrome that is accurate, reliable, and affordable. If you suspect that you or a loved one may have XFE progeroid syndrome, talk to your doctor about genetic testing.

For more information about the XFE progeroid syndrome NGS genetic DNA test, contact DNA Labs India today.