MMP14 Gene Winchester Syndrome Genetic Test
Cost: AED 4400.0
Symptoms and Diagnosis
Winchester syndrome is a rare genetic disorder characterized by progressive joint stiffness and deformities, short stature, hearing loss, and bone abnormalities. The MMP14 gene is associated with Winchester syndrome.
Test Details
The MMP14 Gene Winchester Syndrome Genetic Test is a type of NGS (Next-Generation Sequencing) genetic testing. It uses high-throughput sequencing technologies to analyze multiple genes simultaneously.
For Winchester syndrome, this test specifically looks for mutations or variations in the MMP14 gene that are associated with the condition. It involves collecting a DNA sample, typically through a blood sample or saliva sample, and analyzing the DNA using NGS technology.
The DNA sequence is compared to a reference sequence to identify any variations or mutations in the MMP14 gene that may be causing or contributing to the development of Winchester syndrome.
Components and Price
The cost of the MMP14 Gene Winchester Syndrome Genetic Test is AED 4400.0. The test can be performed on blood or extracted DNA, or even one drop of blood on an FTA card.
Report Delivery
The report for the MMP14 Gene Winchester Syndrome Genetic Test is typically delivered within 3 to 4 weeks.
Test Type and Department
The MMP14 Gene Winchester Syndrome Genetic Test falls under the category of Osteology Dermatology Immunology Disorders. It is conducted in the Genetics department.
Doctor and Pre Test Information
A dermatologist is the recommended doctor for this test. Prior to the test, it is important to provide the clinical history of the patient who is going for the MMP14 Gene Winchester Syndrome NGS Genetic DNA Test. A genetic counseling session may also be conducted to draw a pedigree chart of family members affected with the gene.
Importance and Benefits
NGS genetic testing for Winchester syndrome can help confirm a diagnosis, provide information about disease progression and prognosis, and guide treatment decisions. It can also be used for genetic counseling and to identify other family members who may be at risk of developing the condition.
It is important to note that NGS genetic testing is a complex and specialized procedure that requires the expertise of geneticists and genetic counselors. The results of the test should be interpreted by a healthcare professional familiar with Winchester syndrome and genetic testing.
Test Name | MMP14 Gene Winchester Syndrome 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 MMP14 Gene Winchester Syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MMP14 Gene Winchester Syndrome NGS Genetic DNA Test gene MMP14 |
Test Details |
The MMP14 gene is associated with Winchester syndrome, also known as MMP14-related Winchester syndrome. Winchester syndrome is a rare genetic disorder characterized by progressive joint stiffness and deformities, short stature, hearing loss, and bone abnormalities. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses high-throughput sequencing technologies to analyze multiple genes simultaneously. In the context of Winchester syndrome, NGS genetic testing can be used to identify mutations or variations in the MMP14 gene that are associated with the condition. NGS genetic testing for Winchester syndrome involves collecting a DNA sample, typically through a blood sample or saliva sample, and analyzing the DNA using NGS technology. The DNA sequence is compared to a reference sequence to identify any variations or mutations in the MMP14 gene that may be causing or contributing to the development of Winchester syndrome. NGS genetic testing can help confirm a diagnosis of Winchester syndrome, provide information about disease progression and prognosis, and guide treatment decisions. It can also be used for genetic counseling and to identify other family members who may be at risk of developing the condition. It is important to note that NGS genetic testing is a complex and specialized procedure that requires the expertise of geneticists and genetic counselors. The results of the test should be interpreted by a healthcare professional familiar with Winchester syndrome and genetic testing. |