PEX1 Gene Heimler Syndrome Type 1 Genetic Test
Test Name: PEX1 Gene Heimler Syndrome Type 1 Genetic Test
Components: PEX1 gene
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: Osteology, Dermatology, Immunology Disorders
Doctor: Dermatologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for PEX1 Gene Heimler Syndrome Type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PEX1 Gene Heimler Syndrome Type 1 NGS Genetic DNA Test gene PEX1
Test Details:
PEX1 gene, also known as peroxisomal biogenesis factor 1, is associated with a genetic disorder called Heimler Syndrome Type 1. Heimler Syndrome is a rare autosomal recessive disorder characterized by sensorineural hearing loss, intellectual disability, and various physical abnormalities. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and identify genetic variations or mutations.
In the context of Heimler Syndrome Type 1, NGS genetic testing can be used to sequence the PEX1 gene and identify any pathogenic variants or mutations that may be causing the disorder. By analyzing the PEX1 gene using NGS technology, clinicians can determine if a patient has Heimler Syndrome Type 1 and provide appropriate medical management and genetic counseling. This information can also be helpful for understanding the underlying genetic mechanisms of the disorder and potentially developing targeted therapies in the future.
Test Name | PEX1 Gene Heimler syndrome type 1 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 | Osteology Dermatology Immunology Disorders |
Doctor | Dermatologist |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for PEX1 Gene Heimler syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PEX1 Gene Heimler syndrome type 1 NGS Genetic DNA Test gene PEX1 |
Test Details |
PEX1 gene, also known as peroxisomal biogenesis factor 1, is associated with a genetic disorder called Heimler syndrome type 1. Heimler syndrome is a rare autosomal recessive disorder characterized by sensorineural hearing loss, intellectual disability, and various physical abnormalities. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and identify genetic variations or mutations. In the context of Heimler syndrome type 1, NGS genetic testing can be used to sequence the PEX1 gene and identify any pathogenic variants or mutations that may be causing the disorder. By analyzing the PEX1 gene using NGS technology, clinicians can determine if a patient has Heimler syndrome type 1 and provide appropriate medical management and genetic counseling. This information can also be helpful for understanding the underlying genetic mechanisms of the disorder and potentially developing targeted therapies in the future. |