Stanford’s Molecular Genetic Pathology Laboratory provides a full range of diagnostic services for inherited genetic disorders, hematolymphoid malignancies, solid tumors, and genetic risk factors via analysis of the nucleic acids (DNA and/or RNA).
Our test offerings include: diagnostic assays and carrier screening assays for inherited genetic disorders, as well as prenatal diagnostics. In addition, the laboratory performs assays for thrombophilia risk factors, solid tumors, and for acquired hematolymphoid disorders such as leukemias and lymphomas.
Inherited Genetic Diseases and Prenatal Diagnostics
Stanford’s Molecular Pathology Lab offers a full range of diagnosis for inherited diseases, including Cystic Fibrosis, the most common life threatening autosomal recessive disorder in Caucasians. Our screening detects 39 CFTR mutations, including the 23 mutations currently recommended by the American Board of Medical Genetics (ABMG) and the American College of Obstetricians and Gynecologists (ACOG).
We also offer testing for Fragile X for mutations causing mental retardation, Connexin 26 and 30 for mutations causing hearing loss and deafness, and Duchenne and Becker muscular dystrophies (DMD and BMD).
Next Generation Sequencing
Stanford’s Next Generation Sequencing assays provide molecular analysis of solid tumor and hematologic malignancies, including mutation profiling for targeted therapies. Our lab developed testing focuses on identifying DNA mutations known to contain clinically significant somatic mutations. This focus provides actionable information that can be immediately utilized for diagnosis, prognostic assessment, patient risk stratification and eligibility for clinical trials. Our assays include:
Targeted Solid Tumor Assays
We offer a wide range of discrete testing to inform therapeutic treatment. These rapid testing offerings performed via a single base primer extension test (SnapShot methodology) include POLE mutation, KRAS, EGFR, NRAS, IDH and IDH2. KIT and BRAF hotspot mutations are also available by target-specific PCR testing.