ANKH Gene Craniometaphyseal dysplasia Genetic Test
Test Details
ANKH gene craniometaphyseal dysplasia NGS genetic testing is a type of genetic test that looks for mutations or variations in the ANKH gene associated with craniometaphyseal dysplasia. Craniometaphyseal dysplasia is a rare genetic disorder characterized by abnormal bone growth in the skull and facial bones, as well as metaphyseal dysplasia affecting the long bones.
NGS, or next-generation sequencing, is a high-throughput sequencing technology that allows for the simultaneous analysis of multiple genes or the entire exome or genome. In the case of ANKH gene craniometaphyseal dysplasia NGS genetic testing, the ANKH gene is specifically targeted for analysis. The test involves collecting a DNA sample, typically through a blood sample or a cheek swab, and sequencing the ANKH gene using NGS technology.
The sequencing data is then analyzed to identify any mutations or variations in the ANKH gene that may be associated with craniometaphyseal dysplasia. The results of the test can help confirm a diagnosis of craniometaphyseal dysplasia and provide information about the specific genetic mutation involved. This information can be used for genetic counseling, family planning, and potentially for the development of targeted treatments in the future.
Test Name
ANKH Gene Craniometaphyseal dysplasia 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
Dysmorphology
Doctor
Pediatrics
Test Department
Genetics
Pre Test Information
Clinical History of Patient who is going for ANKH Gene Craniometaphyseal dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ANKH Gene Craniometaphyseal dysplasia NGS Genetic DNA Test gene ANKH
Test Name | ANKH Gene Craniometaphyseal dysplasia 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 | Dysmorphology |
Doctor | Pediatrics |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for ANKH Gene Craniometaphyseal dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ANKH Gene Craniometaphyseal dysplasia NGS Genetic DNA Test gene ANKH |
Test Details |
ANKH gene craniometaphyseal dysplasia NGS genetic testing is a type of genetic test that looks for mutations or variations in the ANKH gene associated with craniometaphyseal dysplasia. Craniometaphyseal dysplasia is a rare genetic disorder characterized by abnormal bone growth in the skull and facial bones, as well as metaphyseal dysplasia affecting the long bones. NGS, or next-generation sequencing, is a high-throughput sequencing technology that allows for the simultaneous analysis of multiple genes or the entire exome or genome. In the case of ANKH gene craniometaphyseal dysplasia NGS genetic testing, the ANKH gene is specifically targeted for analysis. The test involves collecting a DNA sample, typically through a blood sample or a cheek swab, and sequencing the ANKH gene using NGS technology. The sequencing data is then analyzed to identify any mutations or variations in the ANKH gene that may be associated with craniometaphyseal dysplasia. The results of the test can help confirm a diagnosis of craniometaphyseal dysplasia and provide information about the specific genetic mutation involved. This information can be used for genetic counseling, family planning, and potentially for the development of targeted treatments in the future. |