Short Description

NGS genetic DNA test detecets for variant and mutation detection in ZMPSTE24 gene for Restrictive dermopathy, lethal

PreTest Information

Clinical History of Patient who is going for ZMPSTE24 Gene Restrictive dermopathy, lethal NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ZMPSTE24 Gene Restrictive dermopathy, lethal NGS Genetic DNA Test gene ZMPSTE24

Detail Description

ZMPSTE24 Gene Restrictive Dermopathy: Symptoms, Diagnosis and NGS Genetic DNA Test Cost

Restrictive dermopathy is a rare genetic disorder that affects the skin and bones. It is caused by mutations in the ZMPSTE24 gene, which codes for a protein that plays a key role in the processing of a protein called lamin A. This protein is essential for the structural integrity of the nucleus of cells, and mutations in the ZMPSTE24 gene can result in the accumulation of abnormal lamin A in cells, leading to a range of symptoms and complications.

Symptoms of Restrictive Dermopathy

Restrictive dermopathy is typically diagnosed during pregnancy, as affected fetuses often show signs of the condition on ultrasound scans. However, in some cases, symptoms may not become apparent until after birth. Common symptoms of restrictive dermopathy include:

• Very tight, shiny skin that is often described as "waxy" or "leathery"
• Restricted movement of the joints, particularly in the hands and feet
• Delayed growth and development
• Breathing difficulties
• Severe skeletal abnormalities, including thin bones and abnormal curvature of the spine
• Shortened lifespan

Diagnosis of Restrictive Dermopathy

Diagnosis of restrictive dermopathy is typically based on a combination of clinical symptoms and genetic testing. Prenatal diagnosis can be performed using amniocentesis or chorionic villus sampling, which involves taking a sample of the amniotic fluid or placental tissue and analyzing the DNA for mutations in the ZMPSTE24 gene. Postnatal diagnosis can be performed using a blood sample.

NGS Genetic DNA Test Cost for Restrictive Dermopathy

NGS (next-generation sequencing) genetic DNA testing is a powerful tool for diagnosing rare genetic disorders like restrictive dermopathy. NGS technology allows for the analysis of large amounts of genetic data quickly and accurately, making it an ideal tool for diagnosing complex genetic disorders. The cost of an NGS genetic DNA test for restrictive dermopathy in India is typically around INR 20,000.

Conclusion

Restrictive dermopathy is a rare genetic disorder that can have a significant impact on the affected individual and their family. Early diagnosis is essential for managing the symptoms and providing appropriate medical care. NGS genetic DNA testing is a powerful tool for diagnosing restrictive dermopathy and other rare genetic disorders, and the cost of testing is becoming increasingly affordable. If you or a loved one is experiencing symptoms of restrictive dermopathy, speak to your healthcare provider about genetic testing options.

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 ZMPSTE24 Gene Restrictive dermopathy, lethal NGS Genetic DNA Test