Short Description

NGS genetic DNA test detecets for variant and mutation detection in maternal UPD chr. 7 gene for Silver-Russell syndrome

PreTest Information

Clinical History of Patient who is going for maternal UPD chr. 7 Gene Silver-Russell syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with maternal UPD chr. 7 Gene Silver-Russell syndrome NGS Genetic DNA Test gene maternal UPD chr. 7

Detail Description

Maternal UPD Chr. 7 Gene Silver-Russell Syndrome NGS Genetic DNA Test

Silver-Russell Syndrome is a rare genetic disorder that affects growth and development. It is caused by the loss of genetic material on chromosome 7 or the presence of two copies of chromosome 7 inherited from the mother. This is known as maternal uniparental disomy (UPD) of chromosome 7.

Symptoms of Silver-Russell Syndrome

The symptoms of Silver-Russell Syndrome vary widely and can include:

• Low birth weight and poor growth
• Delayed growth and development
• Short stature
• Facial asymmetry
• Small head size
• Clinodactyly (curved fifth fingers)
• Café-au-lait spots

Diagnosis of Silver-Russell Syndrome

Silver-Russell Syndrome is diagnosed based on a combination of clinical features and genetic testing. Genetic testing can confirm the presence of maternal UPD of chromosome 7 or other genetic abnormalities associated with the syndrome.

Maternal UPD Chr. 7 Gene Silver-Russell Syndrome NGS Genetic DNA Test

The Maternal UPD Chr. 7 Gene Silver-Russell Syndrome NGS Genetic DNA Test is a specialized genetic test that can detect maternal UPD of chromosome 7 and other genetic abnormalities associated with Silver-Russell Syndrome. The test uses next-generation sequencing (NGS) technology to analyze the DNA for specific genetic markers.

Cost of Maternal UPD Chr. 7 Gene Silver-Russell Syndrome NGS Genetic DNA Test

The cost of the Maternal UPD Chr. 7 Gene Silver-Russell Syndrome NGS Genetic DNA Test in India is INR 20,000.

Benefits of Maternal UPD Chr. 7 Gene Silver-Russell Syndrome NGS Genetic DNA Test

• Accurate diagnosis of Silver-Russell Syndrome
• Identification of maternal UPD of chromosome 7
• Early detection of genetic abnormalities
• Improved patient care and management

Conclusion

The Maternal UPD Chr. 7 Gene Silver-Russell Syndrome NGS Genetic DNA Test is an important tool for the diagnosis and management of Silver-Russell Syndrome. It is a specialized genetic test that can accurately detect maternal UPD of chromosome 7 and other genetic abnormalities associated with the syndrome. The cost of the test in India is INR 20,000. Early detection and accurate diagnosis can help improve patient care and management.