PCNT Gene Microcephalic Osteodysplastic Primordial Dwarfism Type 2 Genetic Test
Test Name:
PCNT Gene Microcephalic Osteodysplastic Primordial Dwarfism 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:
Dysmorphology
Doctor:
Pediatrics
Test Department:
Genetics
Pre Test Information:
Clinical History of Patient who is going for PCNT Gene Microcephalic Osteodysplastic Primordial Dwarfism Type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PCNT Gene Microcephalic Osteodysplastic Primordial Dwarfism Type 2 NGS Genetic DNA Test gene PCNT
Test Details:
The PCNT gene is associated with a rare genetic disorder called microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2). This disorder is characterized by severe growth retardation, microcephaly (small head size), skeletal abnormalities, and developmental delays. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously. In the context of MOPD2, NGS genetic testing can be used to identify mutations or variations in the PCNT gene that are associated with the disorder. NGS genetic testing involves sequencing the DNA of an individual to identify specific variations in the PCNT gene. This can help in confirming a diagnosis of MOPD2 and providing information about the specific genetic mutation present in an individual. The results of NGS genetic testing can be used for various purposes, including genetic counseling, family planning, and potentially guiding treatment decisions. It is important to consult with a healthcare professional or a genetic counselor to understand the implications of the test results and to discuss any further steps or recommendations.
Test Name | PCNT Gene Microcephalic osteodysplastic primordial dwarfism 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 | Dysmorphology |
Doctor | Pediatrics |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for PCNT Gene Microcephalic osteodysplastic primordial dwarfism type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PCNT Gene Microcephalic osteodysplastic primordial dwarfism type 2 NGS Genetic DNA Test gene PCNT |
Test Details |
The PCNT gene is associated with a rare genetic disorder called microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2). This disorder is characterized by severe growth retardation, microcephaly (small head size), skeletal abnormalities, and developmental delays. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously. In the context of MOPD2, NGS genetic testing can be used to identify mutations or variations in the PCNT gene that are associated with the disorder. NGS genetic testing involves sequencing the DNA of an individual to identify specific variations in the PCNT gene. This can help in confirming a diagnosis of MOPD2 and providing information about the specific genetic mutation present in an individual. The results of NGS genetic testing can be used for various purposes, including genetic counseling, family planning, and potentially guiding treatment decisions. It is important to consult with a healthcare professional or a genetic counselor to understand the implications of the test results and to discuss any further steps or recommendations. |