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POMT1 Gene Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation Type B1 Genetic Test Cost

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

-21%

The POMT1 gene plays a critical role in the development and maintenance of muscle and brain tissue. Mutations in the POMT1 gene can lead to a rare form of muscular dystrophy-dystroglycanopathy, specifically categorized as congenital with mental retardation type B1. This condition is characterized by severe muscle weakness from birth, brain abnormalities, and, in many cases, intellectual disabilities.

To diagnose this condition, a genetic test is available at DNA Labs UAE, which can identify mutations in the POMT1 gene. The test is crucial for confirming the diagnosis, understanding the disease progression, and making informed decisions regarding the management and care of affected individuals. The cost of the test is 4400 AED, and it involves analyzing the patient’s DNA sample for the presence of mutations in the POMT1 gene that are known to cause the disease. This genetic test is a valuable tool for families seeking answers about this rare condition, offering insights into potential treatments and interventions that can improve the quality of life for those affected.

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POMT1 Gene Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B1 Genetic Test

Test Name: POMT1 Gene Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B1 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 POMT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with POMT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1.

Test Details:

The POMT1 gene is associated with a specific type of muscular dystrophy-dystroglycanopathy called congenital muscular dystrophy with mental retardation, type B1 (MDDGB1). This condition is characterized by muscle weakness and wasting, as well as intellectual disability.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that can analyze multiple genes simultaneously. In the case of POMT1 gene-related MDDGB1, NGS genetic testing can help identify any variations or mutations in the POMT1 gene that may be responsible for the condition. By identifying the specific genetic mutation, NGS genetic testing can provide a definitive diagnosis for individuals suspected to have MDDGB1. This information is crucial for appropriate medical management, genetic counseling, and potentially future treatment options.

Test Name POMT1 Gene Muscular dystrophy-dystroglycanopathy congenital with mental retardation type B1 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 POMT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1
Test Details

The POMT1 gene is associated with a specific type of muscular dystrophy-dystroglycanopathy called congenital muscular dystrophy with mental retardation, type B1 (MDDGB1). This condition is characterized by muscle weakness and wasting, as well as intellectual disability.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that can analyze multiple genes simultaneously. In the case of POMT1 gene-related MDDGB1, NGS genetic testing can help identify any variations or mutations in the POMT1 gene that may be responsible for the condition.

By identifying the specific genetic mutation, NGS genetic testing can provide a definitive diagnosis for individuals suspected to have MDDGB1. This information is crucial for appropriate medical management, genetic counseling, and potentially future treatment options.

SKU: TEST-1761 Category:

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