CytoGenX offers molecular testing options that can be added to any of our core testing services. This molecular testing examines alterations in one or more genes by analyzing the arrangement of DNA nucleotides within an individual’s genetic makeup, a process referred to as DNA sequencing, which can differ in its extent.
The targeted single variant test focuses on identifying a particular variant within a single gene associated with a disorder (e.g. Sickle Cell disease) This test evaluates family members of an individual with the identified variant to determine if they carry the hereditary condition.
Single-gene tests investigate genetic changes in one gene to either confirm or exclude a specific diagnosis, especially in instances where multiple variants in that gene could lead to the suspected condition. Some example are Cystic Fibrosis, Fragile X, and SMA.
Gene panel tests search for variants across several genes to establish a diagnosis when a patient presents symptoms that might align with various conditions or when numerous gene variants could be responsible for the suspected issue (e.g. Noonan Syndrome).
Whole-exome sequencing (WES) or whole-genome sequencing (WGS) examines the majority of an individual’s DNA to identify genetic variations. This method is beneficial when single-gene or panel tests fail to yield a diagnosis or when the suspected condition or genetic origin is ambiguous.
These additional expanded testing options can be arranged in collaboration with our genetic counselors to maximize the diagnostic effectiveness and guarantee that all required samples are provided for the quickest possible turnaround time.
Please call our genetic team to ensure proper sample submission and expedited testing 1-888-GENE-MED.