ACTB Gene Baraitser-Winter syndrome type 1 Genetic Test
Components: ACTB Gene Baraitser-Winter syndrome type 1 Genetic Test
Price: 4400.0 AED
Sample Condition: Blood
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 ACTB Gene Baraitser-Winter syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ACTB Gene Baraitser-Winter syndrome type 1 NGS Genetic DNA Test gene ACTB
Test Details:
The ACTB gene, also known as Actin Beta, is associated with a rare genetic disorder called Baraitser-Winter syndrome type 1. This syndrome is characterized by a variety of symptoms including intellectual disability, epilepsy, distinctive facial features, brain malformations, and eye abnormalities.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the simultaneous sequencing of multiple genes, including the ACTB gene. This test can identify any genetic variations or mutations in the ACTB gene that may be causing Baraitser-Winter syndrome type 1.
The NGS genetic test for Baraitser-Winter syndrome type 1 involves collecting a sample of DNA, typically through a blood sample or cheek swab. The DNA is then analyzed using advanced sequencing technology to identify any variations in the ACTB gene.
The results of the NGS genetic test can provide a definitive diagnosis of Baraitser-Winter syndrome type 1 if a mutation or variation in the ACTB gene is detected. This can help guide medical management and treatment options for individuals with this syndrome.
It is important to note that genetic testing, including NGS testing, should be performed and interpreted by qualified healthcare professionals, such as geneticists or genetic counselors, who can provide appropriate counseling and support for individuals and families undergoing genetic testing.
Test Name | ACTB Gene Baraitser-Winter syndrome type 1 Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood |
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 ACTB Gene Baraitser-Winter syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ACTB Gene Baraitser-Winter syndrome type 1 NGS Genetic DNA Test gene ACTB |
Test Details |
The ACTB gene, also known as Actin Beta, is associated with a rare genetic disorder called Baraitser-Winter syndrome type 1. This syndrome is characterized by a variety of symptoms including intellectual disability, epilepsy, distinctive facial features, brain malformations, and eye abnormalities. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the simultaneous sequencing of multiple genes, including the ACTB gene. This test can identify any genetic variations or mutations in the ACTB gene that may be causing Baraitser-Winter syndrome type 1. The NGS genetic test for Baraitser-Winter syndrome type 1 involves collecting a sample of DNA, typically through a blood sample or cheek swab. The DNA is then analyzed using advanced sequencing technology to identify any variations in the ACTB gene. The results of the NGS genetic test can provide a definitive diagnosis of Baraitser-Winter syndrome type 1 if a mutation or variation in the ACTB gene is detected. This can help guide medical management and treatment options for individuals with this syndrome. It is important to note that genetic testing, including NGS testing, should be performed and interpreted by qualified healthcare professionals, such as geneticists or genetic counselors, who can provide appropriate counseling and support for individuals and families undergoing genetic testing. |