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ACTB Gene Baraitser-Winter Syndrome Type 1 Genetic Test

Name: ACTB Gene Baraitser-Winter Syndrome Type 1 Genetic Test
SKU: TEST-3997
Price: 4400 AED
Availability: InStock

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The ACTB Gene Baraitser-Winter Syndrome Type 1 Genetic Test is a specialized diagnostic assessment available at DNA Labs UAE, designed to detect mutations in the ACTB gene, which are responsible for Baraitser-Winter Syndrome Type 1. This rare genetic disorder is characterized by distinctive facial features, intellectual disability, and various developmental anomalies. The test, priced at 4400 AED, involves analyzing the patient’s DNA to identify specific genetic alterations in the ACTB gene, offering crucial information for accurate diagnosis, management, and understanding the risk of passing the condition to future generations. Conducted in the state-of-the-art facilities of DNA Labs UAE, this test is a critical tool for families and individuals dealing with the implications of this syndrome, providing them with the necessary genetic insights to navigate the condition.

Description

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.