YAP1 Gene Coloboma ocular with or without hearing impairment cleft lippalate andor mental retardation Genetic Test
Test Name: YAP1 Gene Coloboma ocular with or without hearing impairment cleft lippalate andor mental retardation 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: Ophthalmology Disorders
Doctor: Ophthalmologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for YAP1 Gene Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with YAP1 Gene Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation NGS Genetic DNA Test gene YAP1
Test Details: The YAP1 gene is associated with a rare genetic disorder called Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation. This disorder is characterized by a missing piece of tissue in the eye (coloboma), hearing loss, and abnormalities of the lip and palate. Mental retardation may also be present in some cases.
NGS genetic testing can be used to detect mutations in the YAP1 gene that may be responsible for this disorder. This test involves sequencing the DNA of an individual to identify any changes or mutations in the YAP1 gene. If a mutation is found, it can help confirm a diagnosis of Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation.
Genetic testing can also help identify carriers of the YAP1 mutation, which can be useful for family planning and genetic counseling. It is important to note that not all individuals with a YAP1 mutation will develop symptoms of the disorder, and the severity of symptoms can vary widely even among individuals with the same mutation.
Test Name | YAP1 Gene Coloboma ocular with or without hearing impairment cleft lippalate andor mental retardation Genetic Test |
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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 | Ophthalmology Disorders |
Doctor | Ophthalmologist |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for YAP1 Gene Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with YAP1 Gene Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation NGS Genetic DNA Test gene YAP1 |
Test Details |
The YAP1 gene is associated with a rare genetic disorder called Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation. This disorder is characterized by a missing piece of tissue in the eye (coloboma), hearing loss, and abnormalities of the lip and palate. Mental retardation may also be present in some cases. NGS genetic testing can be used to detect mutations in the YAP1 gene that may be responsible for this disorder. This test involves sequencing the DNA of an individual to identify any changes or mutations in the YAP1 gene. If a mutation is found, it can help confirm a diagnosis of Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation. Genetic testing can also help identify carriers of the YAP1 mutation, which can be useful for family planning and genetic counseling. It is important to note that not all individuals with a YAP1 mutation will develop symptoms of the disorder, and the severity of symptoms can vary widely even among individuals with the same mutation. |