Short Description

NGS genetic DNA test detecets for variant and mutation detection in MYH9 gene for Epstein syndrome

PreTest Information

Clinical History of Patient who is going for MYH9 Gene Epstein syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MYH9 Gene Epstein syndrome NGS Genetic DNA Test gene MYH9

Detail Description

MYH9 Gene Epstein Syndrome NGS Genetic DNA Test Cost INR 20000: Symptoms and Diagnosis

Epstein Syndrome is a rare genetic disorder that affects the blood platelets and causes bleeding disorders. It is caused by mutations in the MYH9 gene which codes for the non-muscle myosin heavy chain IIA protein. This protein is essential for the formation and functioning of platelets, which are responsible for blood clotting.

MYH9 Gene Epstein Syndrome can be diagnosed through NGS (Next Generation Sequencing) Genetic DNA testing. This test analyzes the DNA sequence of the MYH9 gene to detect any mutations that may be causing Epstein Syndrome. The cost of this test in India is INR 20000.

Symptoms of MYH9 Gene Epstein Syndrome

MYH9 Gene Epstein Syndrome is characterized by bleeding disorders, including:

• Bruising easily
• Excessive bleeding from cuts and wounds
• Nosebleeds
• Bleeding gums
• Heavy menstrual bleeding in females

Other symptoms of Epstein Syndrome include:

• Hearing loss
• Cataracts
• Kidney problems
• High blood pressure

Some individuals with MYH9 Gene Epstein Syndrome may not experience any symptoms at all.

Diagnosis of MYH9 Gene Epstein Syndrome

The diagnosis of MYH9 Gene Epstein Syndrome is made through a combination of clinical evaluation, genetic testing, and family history. A doctor may perform a physical examination to look for signs of bleeding disorders, such as bruises and petechiae (small red or purple spots on the skin). Blood tests may also be performed to evaluate platelet function and count.

The definitive diagnosis of MYH9 Gene Epstein Syndrome is made through genetic testing. NGS Genetic DNA testing is the most accurate and comprehensive test available for detecting mutations in the MYH9 gene. This test can detect even small changes in the DNA sequence that may be responsible for Epstein Syndrome.

Conclusion

MYH9 Gene Epstein Syndrome is a rare genetic disorder that affects blood platelets and causes bleeding disorders. It can be diagnosed through NGS Genetic DNA testing, which analyzes the DNA sequence of the MYH9 gene to detect any mutations that may be causing the disorder. The cost of this test in India is INR 20000. If you or a loved one is experiencing symptoms of Epstein Syndrome, it is important to seek medical attention and consider genetic testing to receive an accurate diagnosis and appropriate treatment.