NKX3-2 Gene Spondylo-megaepiphyseal-metaphyseal dysplasia Genetic Test
Cost: 4400.0 AED
Test Name: NKX3-2 Gene Spondylo-megaepiphyseal-metaphyseal dysplasia Genetic Test
Components: 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 NKX3-2 Gene Spondylo-megaepiphyseal-metaphyseal dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NKX3-2 Gene Spondylo-megaepiphyseal-metaphyseal dysplasia NGS Genetic DNA Test gene NKX3-2
Test Details:
The NKX3-2 gene is associated with a rare genetic disorder called spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD). SMMD is characterized by abnormal bone development, particularly in the spine (spondylo), large growth plates at the ends of long bones (megaepiphyseal), and the region between the growth plate and the shaft of the bone (metaphyseal).
NGS genetic testing refers to Next-Generation Sequencing, a high-throughput DNA sequencing technology. It allows for the rapid sequencing of a large number of genes simultaneously. In the context of SMMD, NGS genetic testing can be used to identify mutations or variations in the NKX3-2 gene that may be responsible for the condition. By analyzing the patient’s DNA, NGS genetic testing can provide valuable information about the specific genetic changes that may be causing SMMD. This information can help with diagnosis, prognosis, and potentially guide treatment options for individuals affected by this condition.
Test Name | NKX3-2 Gene Spondylo-megaepiphyseal-metaphyseal 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 NKX3-2 Gene Spondylo-megaepiphyseal-metaphyseal dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NKX3-2 Gene Spondylo-megaepiphyseal-metaphyseal dysplasia NGS Genetic DNA Test gene NKX3-2 |
Test Details |
The NKX3-2 gene is associated with a rare genetic disorder called spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD). SMMD is characterized by abnormal bone development, particularly in the spine (spondylo), large growth plates at the ends of long bones (megaepiphyseal), and the region between the growth plate and the shaft of the bone (metaphyseal). NGS genetic testing refers to Next-Generation Sequencing, a high-throughput DNA sequencing technology. It allows for the rapid sequencing of a large number of genes simultaneously. In the context of SMMD, NGS genetic testing can be used to identify mutations or variations in the NKX3-2 gene that may be responsible for the condition. By analyzing the patient’s DNA, NGS genetic testing can provide valuable information about the specific genetic changes that may be causing SMMD. This information can help with diagnosis, prognosis, and potentially guide treatment options for individuals affected by this condition. |