SMC1A Gene Cornelia de Lange syndrome 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 SMC1A Gene Cornelia de Lange syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SMC1A Gene Cornelia de Lange syndrome type 2 NGS Genetic DNA Test gene SMC1A.
Test Details
The SMC1A gene is associated with Cornelia de Lange syndrome type 2 (CdLS2). CdLS is a genetic disorder that affects multiple organ systems and is characterized by intellectual disability, distinctive facial features, growth retardation, and limb abnormalities.
NGS (Next-Generation Sequencing) genetic testing is a method used to sequence and analyze multiple genes simultaneously. It allows for the identification of genetic variants or mutations that may be associated with specific disorders or conditions. In the context of CdLS2, an NGS genetic test targeting the SMC1A gene would involve sequencing the entire coding region of the gene to identify any potential disease-causing mutations or variants.
This type of test can help confirm a diagnosis of CdLS2 in individuals suspected of having the condition. It is important to note that genetic testing for CdLS and other genetic disorders should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate genetic counseling.
| Test Name | SMC1A Gene Cornelia de Lange syndrome 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 SMC1A Gene Cornelia de Lange syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SMC1A Gene Cornelia de Lange syndrome type 2 NGS Genetic DNA Test gene SMC1A |
| Test Details |
The SMC1A gene is associated with Cornelia de Lange syndrome type 2 (CdLS2). CdLS is a genetic disorder that affects multiple organ systems and is characterized by intellectual disability, distinctive facial features, growth retardation, and limb abnormalities. NGS (Next-Generation Sequencing) genetic testing is a method used to sequence and analyze multiple genes simultaneously. It allows for the identification of genetic variants or mutations that may be associated with specific disorders or conditions. In the context of CdLS2, an NGS genetic test targeting the SMC1A gene would involve sequencing the entire coding region of the gene to identify any potential disease-causing mutations or variants. This type of test can help confirm a diagnosis of CdLS2 in individuals suspected of having the condition. It is important to note that genetic testing for CdLS and other genetic disorders should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate genetic counseling. |
