IGBP1 Gene Corpus Callosum Agenesis with Mental Retardation Ocular Coloboma and Micrognathia Genetic Test
Test Name: IGBP1 Gene Corpus Callosum Agenesis with Mental Retardation Ocular Coloboma and Micrognathia 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: Neurological Disorders
Doctor: Neurologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for IGBP1 Gene Corpus Callosum Agenesis with Mental Retardation Ocular Coloboma and Micrognathia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with IGBP1 Gene Corpus Callosum Agenesis with Mental Retardation Ocular Coloboma and Micrognathia.
Test Details: The IGBP1 gene is associated with a rare genetic disorder called corpus callosum agenesis, with mental retardation, ocular coloboma, and micrognathia. This disorder is characterized by the absence or underdevelopment of the corpus callosum, which is a band of nerve fibers that connects the two hemispheres of the brain. This leads to various neurological and developmental problems, including intellectual disability, delayed speech and motor skills, seizures, and behavioral issues. In addition to the brain abnormalities, individuals with this disorder also have ocular coloboma, which is a gap or hole in one of the structures of the eye, and micrognathia, which is an abnormally small jaw. These features can cause vision and feeding problems, respectively. NGS genetic testing can be used to diagnose this disorder by sequencing the IGBP1 gene and identifying any mutations or variations that may be causing the condition. This can help with early diagnosis and management of the disorder, as well as provide important information for genetic counseling and family planning.
Test Name | IGBP1 Gene Corpus callosum agenesis of with mental retardation ocular coloboma and micrognathia 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 IGBP1 Gene Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with IGBP1 Gene Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia |
Test Details | The IGBP1 gene is associated with a rare genetic disorder called corpus callosum agenesis, with mental retardation, ocular coloboma, and micrognathia. This disorder is characterized by the absence or underdevelopment of the corpus callosum, which is a band of nerve fibers that connects the two hemispheres of the brain. This leads to various neurological and developmental problems, including intellectual disability, delayed speech and motor skills, seizures, and behavioral issues. In addition to the brain abnormalities, individuals with this disorder also have ocular coloboma, which is a gap or hole in one of the structures of the eye, and micrognathia, which is an abnormally small jaw. These features can cause vision and feeding problems, respectively. NGS genetic testing can be used to diagnose this disorder by sequencing the IGBP1 gene and identifying any mutations or variations that may be causing the condition. This can help with early diagnosis and management of the disorder, as well as provide important information for genetic counseling and family planning. |