The LMM can offer testing for diagnostic genome sequencing and genomic screening. Please contact the lab prior to sending any specimen or to request premade kits.
For all diagnostic, presymptomatic, and carrier testing sample options are:
Blood (preferred): 4-8ml of whole blood collected in a lavender (K2EDTA or K3EDTA)) or pink (K2EDTA) tube
DNA (please send only if blood is not available, and provide origin of sample): 5-10 µg extracted DNA at a concentration of 50 ng/µl in Tris-EDTA (TE) buffer with OD260/280 between 1.8-2.0
If providing DNA, please provide name and CLIA # of lab performing blood extraction
Important: Do not send Formalin-Fixed Autopsy Tissue (lengthy formalin fixation typical of autopsies destroys the DNA). For more specific questions of other types of tissue, please contact the lab at 617-768-8500 or lmm@partners.org.