CASK Gene Mental Retardation and Microcephaly Genetic Test
Test Name: CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia Genetic Test
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: Neurological Disorders
Doctor: Neurologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia
About CASK Gene Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia
The CASK gene is associated with a rare genetic disorder called Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia (MICPCH). This disorder primarily affects brain development, resulting in intellectual disability, small head size (microcephaly), and underdevelopment of the pons (part of the brainstem) and cerebellum.
About NGS Technology
NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to examine multiple genes simultaneously. In the case of MICPCH, NGS can be used to analyze the CASK gene for any potential mutations or abnormalities. By identifying mutations in the CASK gene, NGS testing can help confirm a diagnosis of MICPCH. It can also provide information about the specific mutation present, which can aid in understanding the severity and prognosis of the disorder.
NGS testing is a valuable tool in genetic diagnosis as it allows for the analysis of multiple genes simultaneously, providing a more comprehensive view of a patient’s genetic makeup. This can be particularly helpful in cases where the genetic cause is not immediately apparent or when multiple genes may be involved in a particular disorder, such as in MICPCH.
| Test Name | CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Neurological Disorders |
| Doctor | Neurologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia |
| Test Details |
The CASK gene is associated with a rare genetic disorder called Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia (MICPCH). This disorder primarily affects brain development, resulting in intellectual disability, small head size (microcephaly), and underdevelopment of the pons (part of the brainstem) and cerebellum. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to examine multiple genes simultaneously. In the case of MICPCH, NGS can be used to analyze the CASK gene for any potential mutations or abnormalities. By identifying mutations in the CASK gene, NGS testing can help confirm a diagnosis of MICPCH. It can also provide information about the specific mutation present, which can aid in understanding the severity and prognosis of the disorder. NGS testing is a valuable tool in genetic diagnosis as it allows for the analysis of multiple genes simultaneously, providing a more comprehensive view of a patient’s genetic makeup. This can be particularly helpful in cases where the genetic cause is not immediately apparent or when multiple genes may be involved in a particular disorder, such as in MICPCH. |
