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POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation Type B3 Genetic Test Cost

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

-21%

The POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation Type B3 genetic test is a specialized diagnostic procedure available at DNA Labs UAE. This test is designed to identify mutations in the POMGNT1 gene, which are linked to a rare form of muscular dystrophy known as dystroglycanopathy congenital with mental retardation type B3. This condition is characterized by congenital muscular dystrophy accompanied by intellectual disabilities and, in some cases, structural brain anomalies.

The test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory for the presence of specific genetic mutations in the POMGNT1 gene. The results of this test can provide crucial information for the diagnosis, management, and treatment planning for affected individuals and their families.

The cost of the POMGNT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation Type B3 genetic test at DNA Labs UAE is 4400 AED. This price may vary depending on additional services or consultations required. Early diagnosis through this genetic test can significantly impact the management of the condition, offering insights into potential therapies and interventions that can improve the quality of life for those affected.

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POMGNT1 Gene Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B3 Genetic Test

Test Name: POMGNT1 Gene Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B3 Genetic Test

Components: Blood or Extracted DNA or One drop Blood on FTA Card

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 POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3.

Test Details: The POMGNT1 gene is associated with a specific type of muscular dystrophy called muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3. This genetic disorder is characterized by muscle weakness and wasting, intellectual disability, and various brain abnormalities. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously, providing a comprehensive assessment of an individual’s genetic makeup. In the context of POMGNT1 gene testing, NGS can be used to identify mutations or variations in the POMGNT1 gene that may be responsible for the development of muscular dystrophy-dystroglycanopathy, type B3. NGS genetic testing can help with the diagnosis of this condition, provide information about the specific genetic variant causing the disease, and assist in determining the inheritance pattern within a family. This information is crucial for genetic counseling, family planning, and potentially guiding treatment options. It’s important to note that genetic testing should be performed and interpreted by qualified healthcare professionals, such as geneticists or genetic counselors, who can provide accurate and personalized information based on an individual’s specific circumstances.

Test Name POMGNT1 Gene Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B3 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 POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3
Test Details

The POMGNT1 gene is associated with a specific type of muscular dystrophy called muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3. This genetic disorder is characterized by muscle weakness and wasting, intellectual disability, and various brain abnormalities.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously, providing a comprehensive assessment of an individual’s genetic makeup. In the context of POMGNT1 gene testing, NGS can be used to identify mutations or variations in the POMGNT1 gene that may be responsible for the development of muscular dystrophy-dystroglycanopathy, type B3.

NGS genetic testing can help with the diagnosis of this condition, provide information about the specific genetic variant causing the disease, and assist in determining the inheritance pattern within a family. This information is crucial for genetic counseling, family planning, and potentially guiding treatment options.

It’s important to note that genetic testing should be performed and interpreted by qualified healthcare professionals, such as geneticists or genetic counselors, who can provide accurate and personalized information based on an individual’s specific circumstances.