CHST14 Gene Ehlers-Danlos Syndrome Musculocontractural Type 1 Genetic Test
At DNA Labs UAE, we offer the CHST14 Gene Ehlers-Danlos syndrome musculocontractural type 1 Genetic Test at a cost of AED 4400.0.
Test Details
The CHST14 gene is associated with a rare genetic disorder called Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1). This syndrome is characterized by joint hypermobility, contractures, distinctive facial features, and developmental delays.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that can sequence multiple genes simultaneously, providing a comprehensive analysis of an individual’s genetic makeup. In the context of EDSMC1, NGS genetic testing can be used to identify mutations or variants in the CHST14 gene that are associated with this specific type of Ehlers-Danlos syndrome.
By identifying these genetic changes, NGS testing can help confirm a diagnosis of EDSMC1 and provide valuable information for genetic counseling and management of the condition. It can also be used for carrier testing in family members of affected individuals.
It is important to note that genetic testing for EDSMC1 and other genetic conditions should be done under the guidance of a healthcare professional with expertise in genetics. They can help interpret the results and provide appropriate counseling and support.
Test Components
- Price: AED 4400.0
- 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
Before undergoing the CHST14 Gene Ehlers-Danlos syndrome musculocontractural type 1 Genetic Test, it is important to provide the clinical history of the patient. A Genetic Counselling session may be conducted to draw a pedigree chart of family members affected with CHST14 Gene Ehlers-Danlos syndrome, musculocontractural type 1 NGS Genetic DNA Test gene CHST14.
This information will help in the accurate interpretation of the test results and provide a comprehensive understanding of the genetic condition.
For more information or to schedule an appointment, please contact our Genetics Test Department.
Test Name | CHST14 Gene Ehlers-Danlos syndrome musculocontractural type 1 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 CHST14 Gene Ehlers-Danlos syndrome, musculocontractural type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CHST14 Gene Ehlers-Danlos syndrome, musculocontractural type 1 NGS Genetic DNA Test gene CHST14 |
Test Details |
The CHST14 gene is associated with a rare genetic disorder called Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1). This syndrome is characterized by joint hypermobility, contractures, distinctive facial features, and developmental delays. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that can sequence multiple genes simultaneously, providing a comprehensive analysis of an individual’s genetic makeup. In the context of EDSMC1, NGS genetic testing can be used to identify mutations or variants in the CHST14 gene that are associated with this specific type of Ehlers-Danlos syndrome. By identifying these genetic changes, NGS testing can help confirm a diagnosis of EDSMC1 and provide valuable information for genetic counseling and management of the condition. It can also be used for carrier testing in family members of affected individuals. It is important to note that genetic testing for EDSMC1 and other genetic conditions should be done under the guidance of a healthcare professional with expertise in genetics. They can help interpret the results and provide appropriate counseling and support. |