Advanced Genetic Testing (old page)

Rare diseases or difficult diagnoses are frequently best understood with genetics. Patient stratification by pharmacogenetic profiling or other methods (e.g., custom gene panels) can maximize the odds of a successful clinical trial. We also build custom assays for difficult genetic elements such as pseudogenes, tandem repeats, and structural variants (including deletions, duplications, inversions, translocations, and insertions). We know that human clinical genetics can be quite complex due to the different types of inheritance (e.g., recessive, dominant, X-linked, mitochondrial, partial penetrance), variants and terminology (e.g., indels, copy number variants, single nucleotide variants, polymorphisms, mutations) and many different methods and platforms available for analyses. We offer clinical genetic consulting services to 1) help our clients understand the literature relevant to their patients or their disorders of interest, and 2) to demystify the different detection methods available with their respective costs/benefits along with our recommendations. Additionally, we also provide bioinformatic services or variant analyses to clients who already have their own data.