RBCK1 Gene Polyglucosan body myopathy type 1 with or without immunodeficiency Genetic Test
Test Name: RBCK1 Gene Polyglucosan body myopathy type 1 with or without immunodeficiency Genetic Test
Components: 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 RBCK1 Gene Polyglucosan body myopathy type 1 with or without immunodeficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RBCK1 Gene Polyglucosan body myopathy type 1 with or without immunodeficiency
Test Details: The RBCK1 gene is associated with a condition called polyglucosan body myopathy type 1 with or without immunodeficiency. This is a genetic disorder characterized by muscle weakness and wasting, as well as an increased risk of infections due to immune system dysfunction. The NGS genetic test refers to Next-Generation Sequencing, which is a high-throughput method used to analyze multiple genes simultaneously. This type of genetic testing can identify mutations or variations in the RBCK1 gene that may be responsible for the development of polyglucosan body myopathy type 1 with or without immunodeficiency. By performing an NGS genetic test, healthcare professionals can determine if a person has mutations in the RBCK1 gene, which can help with diagnosis and provide important information for treatment and management of the condition.
Test Name | RBCK1 Gene Polyglucosan body myopathy type 1 with or without immunodeficiency 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 RBCK1 Gene Polyglucosan body myopathy type 1 with or without immunodeficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RBCK1 Gene Polyglucosan body myopathy type 1 with or without immunodeficiency |
Test Details |
The RBCK1 gene is associated with a condition called polyglucosan body myopathy type 1 with or without immunodeficiency. This is a genetic disorder characterized by muscle weakness and wasting, as well as an increased risk of infections due to immune system dysfunction. The NGS genetic test refers to Next-Generation Sequencing, which is a high-throughput method used to analyze multiple genes simultaneously. This type of genetic testing can identify mutations or variations in the RBCK1 gene that may be responsible for the development of polyglucosan body myopathy type 1 with or without immunodeficiency. By performing an NGS genetic test, healthcare professionals can determine if a person has mutations in the RBCK1 gene, which can help with diagnosis and provide important information for treatment and management of the condition. |