COMP Gene Pseudoachondroplasia Genetic Test
Test Name: COMP Gene Pseudoachondroplasia Genetic Test
Components: NGS Technology
Price: 4400.0 AED
Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery: 3 to 4 Weeks
Test Type: Osteology Dermatology Immunology Disorders
Doctor: Dermatologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for COMP Gene Pseudoachondroplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COMP Gene Pseudoachondroplasia NGS Genetic DNA Test gene COMP
Test Details
NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes or even the entire genome. It allows for the rapid and cost-effective analysis of large amounts of genetic data.
In the context of Pseudoachondroplasia, NGS genetic testing can be used to identify mutations in the COMP (Cartilage Oligomeric Matrix Protein) gene. Pseudoachondroplasia is a rare genetic disorder characterized by short stature, joint abnormalities, and early-onset osteoarthritis. It is caused by mutations in the COMP gene, which encodes a protein involved in the formation and maintenance of cartilage.
NGS genetic testing for Pseudoachondroplasia involves sequencing the entire COMP gene or specific regions of interest within the gene. This allows for the detection of various types of mutations, including point mutations, insertions, deletions, and structural rearrangements.
By identifying these mutations, NGS genetic testing can confirm a diagnosis of Pseudoachondroplasia and provide valuable information for genetic counseling and management of the condition.
NGS genetic testing for Pseudoachondroplasia is typically performed using a blood or saliva sample. The DNA from the sample is extracted, and then specific regions of the COMP gene are amplified and sequenced. The resulting sequence data is then analyzed using bioinformatics tools to identify any mutations or genetic variants.
NGS genetic testing has revolutionized the field of genetic testing, allowing for the simultaneous analysis of multiple genes and the detection of rare genetic variants. It offers a more comprehensive and efficient approach to diagnosing genetic disorders like Pseudoachondroplasia. However, it is important to note that NGS genetic testing may not detect all possible mutations, and further confirmatory testing may be required in some cases.
| Test Name | COMP Gene Pseudoachondroplasia 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 COMP Gene Pseudoachondroplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COMP Gene Pseudoachondroplasia NGS Genetic DNA Test gene COMP |
| Test Details |
NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes or even the entire genome. It allows for the rapid and cost-effective analysis of large amounts of genetic data. In the context of Pseudoachondroplasia, NGS genetic testing can be used to identify mutations in the COMP (Cartilage Oligomeric Matrix Protein) gene. Pseudoachondroplasia is a rare genetic disorder characterized by short stature, joint abnormalities, and early-onset osteoarthritis. It is caused by mutations in the COMP gene, which encodes a protein involved in the formation and maintenance of cartilage. NGS genetic testing for Pseudoachondroplasia involves sequencing the entire COMP gene or specific regions of interest within the gene. This allows for the detection of various types of mutations, including point mutations, insertions, deletions, and structural rearrangements. By identifying these mutations, NGS genetic testing can confirm a diagnosis of Pseudoachondroplasia and provide valuable information for genetic counseling and management of the condition. NGS genetic testing for Pseudoachondroplasia is typically performed using a blood or saliva sample. The DNA from the sample is extracted, and then specific regions of the COMP gene are amplified and sequenced. The resulting sequence data is then analyzed using bioinformatics tools to identify any mutations or genetic variants. NGS genetic testing has revolutionized the field of genetic testing, allowing for the simultaneous analysis of multiple genes and the detection of rare genetic variants. It offers a more comprehensive and efficient approach to diagnosing genetic disorders like Pseudoachondroplasia. However, it is important to note that NGS genetic testing may not detect all possible mutations, and further confirmatory testing may be required in some cases. |
