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IGBP1 Gene Corpus Callosum Agenesis of with Mental Retardation Ocular Coloboma and Micrognathia Genetic Test

4,400 د.إ

-21%

The “IGBP1 Gene Corpus Callosum Agenesis with Mental Retardation, Ocular Coloboma, and Micrognathia Genetic Test” is a specialized diagnostic tool available at DNA Labs UAE. This test is designed to detect mutations in the IGBP1 gene, which have been associated with a rare congenital condition characterized by the absence or underdevelopment of the corpus callosum (the part of the brain that connects the two hemispheres), intellectual disabilities, ocular coloboma (a defect in the eye’s iris or retina), and micrognathia (a condition where the jaw is significantly smaller than normal).

The test plays a crucial role in the early diagnosis and management of the condition, providing essential information for healthcare providers and families. By understanding the genetic underpinnings of these symptoms, medical professionals can offer more personalized care plans, anticipate potential complications, and provide genetic counseling to affected families.

The cost of the test is 4400 AED, reflecting the advanced technology and expertise required to accurately identify mutations in the IGBP1 gene. Conducted at DNA Labs UAE, a facility known for its state-of-the-art genetic testing services, patients and healthcare providers can expect reliable and comprehensive results that can significantly impact the management of this rare condition.

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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.