DSE Gene Ehlers-Danlos Syndrome Musculocontractural Type 2 Genetic Test
Test Name: DSE Gene Ehlers-Danlos Syndrome Musculocontractural Type 2 Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
Report Delivery: 3 to 4 Weeks
Method: NGS Technology
Test Type: Osteology Dermatology Immunology Disorders
Doctor: Dermatologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for DSE Gene Ehlers-Danlos Syndrome, Musculocontractural Type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DSE Gene Ehlers-Danlos Syndrome, Musculocontractural Type 2 NGS Genetic DNA Test gene DSE
Test Details: DSE Gene Ehlers-Danlos Syndrome, Musculocontractural Type 2 NGS Genetic Test is a genetic test that analyzes the DSE gene for mutations associated with Ehlers-Danlos Syndrome, Musculocontractural Type 2 (EDSMC2). EDSMC2 is a rare genetic disorder characterized by joint hypermobility, contractures (limited joint movement), muscle atrophy, and characteristic facial features. It is caused by mutations in the DSE gene, which provides instructions for producing an enzyme called dermatan sulfate epimerase. This enzyme plays a crucial role in the production of dermatan sulfate, a component of connective tissues such as skin, tendons, and cartilage.
The NGS (Next-Generation Sequencing) genetic test involves analyzing the DNA sequence of the DSE gene to identify any mutations or variations that may be present. This test helps in confirming a diagnosis of EDSMC2 and can also be used for carrier testing or prenatal diagnosis in families with a known DSE gene mutation. By identifying the specific genetic mutation causing EDSMC2, this test can help in providing a more accurate diagnosis, guiding appropriate medical management, and offering genetic counseling to affected individuals and their families.
Test Name | DSE Gene Ehlers-Danlos syndrome musculocontractural type 2 Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Osteology Dermatology Immunology Disorders |
Doctor | Dermatologist |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for DSE Gene Ehlers-Danlos syndrome, musculocontractural type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DSE Gene Ehlers-Danlos syndrome, musculocontractural type 2 NGS Genetic DNA Test gene DSE |
Test Details |
DSE Gene Ehlers-Danlos syndrome, musculocontractural type 2 NGS Genetic Test is a genetic test that analyzes the DSE gene for mutations associated with Ehlers-Danlos syndrome, musculocontractural type 2 (EDSMC2). EDSMC2 is a rare genetic disorder characterized by joint hypermobility, contractures (limited joint movement), muscle atrophy, and characteristic facial features. It is caused by mutations in the DSE gene, which provides instructions for producing an enzyme called dermatan sulfate epimerase. This enzyme plays a crucial role in the production of dermatan sulfate, a component of connective tissues such as skin, tendons, and cartilage. The NGS (Next-Generation Sequencing) genetic test involves analyzing the DNA sequence of the DSE gene to identify any mutations or variations that may be present. This test helps in confirming a diagnosis of EDSMC2 and can also be used for carrier testing or prenatal diagnosis in families with a known DSE gene mutation. By identifying the specific genetic mutation causing EDSMC2, this test can help in providing a more accurate diagnosis, guiding appropriate medical management, and offering genetic counseling to affected individuals and their families. |