PABPN1 Gene Muscular Dystrophy Oculopharyngeal Genetic Test
Cost: AED 4400.0
Test Components:
- 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 PABPN1 Gene Muscular Dystrophy, Oculopharyngeal NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PABPN1 Gene Muscular Dystrophy, Oculopharyngeal.
Test Details:
The PABPN1 gene is associated with a type of muscular dystrophy called oculopharyngeal muscular dystrophy (OPMD). OPMD is a rare genetic disorder characterized by muscle weakness and wasting in the muscles of the eyes (oculo-) and throat (pharyngeal).
Next-generation sequencing (NGS) is a genetic testing method that allows for the simultaneous analysis of multiple genes or even the entire genome. In the case of OPMD, an NGS genetic test can be used to analyze the PABPN1 gene for any mutations or variations that may be causing the disease.
The NGS genetic test for OPMD involves obtaining a DNA sample from the individual, typically through a blood sample. The DNA is then sequenced using NGS technology, which identifies any changes or mutations in the PABPN1 gene. These changes can help in diagnosing OPMD and determining the specific genetic cause of the disease.
NGS genetic testing for OPMD can be useful for individuals with symptoms of muscle weakness and wasting in the eyes and throat, as well as for individuals with a family history of OPMD. It can provide a definitive diagnosis and help guide treatment and management strategies for the disease.
| Test Name | PABPN1 Gene Muscular dystrophy oculopharyngeal 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 PABPN1 Gene Muscular dystrophy, oculopharyngeal NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PABPN1 Gene Muscular dystrophy, oculopharyngeal |
| Test Details |
The PABPN1 gene is associated with a type of muscular dystrophy called oculopharyngeal muscular dystrophy (OPMD). OPMD is a rare genetic disorder characterized by muscle weakness and wasting in the muscles of the eyes (oculo-) and throat (pharyngeal). Next-generation sequencing (NGS) is a genetic testing method that allows for the simultaneous analysis of multiple genes or even the entire genome. In the case of OPMD, an NGS genetic test can be used to analyze the PABPN1 gene for any mutations or variations that may be causing the disease. The NGS genetic test for OPMD involves obtaining a DNA sample from the individual, typically through a blood sample. The DNA is then sequenced using NGS technology, which identifies any changes or mutations in the PABPN1 gene. These changes can help in diagnosing OPMD and determining the specific genetic cause of the disease. NGS genetic testing for OPMD can be useful for individuals with symptoms of muscle weakness and wasting in the eyes and throat, as well as for individuals with a family history of OPMD. It can provide a definitive diagnosis and help guide treatment and management strategies for the disease. |
