B4GAT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A13 Genetic Test
At DNA Labs UAE, we offer the B4GAT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A13 Genetic Test. This test is designed to diagnose and analyze the B4GAT1 gene, which is associated with a rare genetic disorder known as muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13.
Test Components and Price
The cost of the B4GAT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A13 Genetic Test is 4400.0 AED. The test requires a sample condition of blood, extracted DNA, or one drop of blood on an FTA card.
Report Delivery and Method
The report delivery time for this test is approximately 3 to 4 weeks. The method used for the test is NGS (Next-Generation Sequencing) technology. NGS allows for the rapid and efficient sequencing of large amounts of DNA, making it an ideal tool for genetic testing.
Test Type and Doctor
The B4GAT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A13 Genetic Test falls under the category of neurological disorders. It is recommended to consult with a neurologist for this test.
Test Department and Pre-Test Information
The test is conducted in the Genetics department. Before undergoing the B4GAT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A13 Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session is advised to draw a pedigree chart of family members affected by this disorder.
Test Details
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 is a rare genetic disorder characterized by muscle weakness and wasting, brain malformations, and eye abnormalities. The B4GAT1 gene is associated with this disorder.
NGS genetic testing, or next-generation sequencing, allows for the analysis of multiple genes simultaneously. This makes it a valuable tool for diagnosing genetic disorders like muscular dystrophy-dystroglycanopathy. The B4GAT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies Type A13 Genetic Test involves obtaining a DNA sample, typically through a blood sample or cheek swab, and sequencing the DNA to identify any mutations or variations in the B4GAT1 gene.
The results of this test can confirm a diagnosis of muscular dystrophy-dystroglycanopathy, type A13, and provide valuable information for treatment and management options for affected individuals and their families.
Test Name | B4GAT1 Gene Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A13 Genetic Test |
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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 B4GAT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with B4GAT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 |
Test Details |
The B4GAT1 gene is associated with a rare genetic disorder called muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13. This disorder is characterized by muscle weakness and wasting, brain malformations, and eye abnormalities. NGS genetic testing refers to next-generation sequencing, a high-throughput sequencing technology that allows for the rapid and efficient sequencing of large amounts of DNA. In the context of genetic testing, NGS can be used to analyze multiple genes simultaneously, making it a useful tool for diagnosing genetic disorders like muscular dystrophy-dystroglycanopathy. The NGS genetic test for B4GAT1 gene mutations involves obtaining a DNA sample, typically through a blood sample or cheek swab, and sequencing the DNA to identify any mutations or variations in the B4GAT1 gene. The results of this test can help confirm a diagnosis of muscular dystrophy-dystroglycanopathy, type A13 and guide treatment and management options for affected individuals and their families. |