For all diagnostic and presymptomatic full gene or panel testing, sample requirements are either:
4-8 ml of whole blood (3–5ml for an infant) in a lavender top tube (K2EDTA or K3EDTA)
10 ug of DNA at a minimum concentration of 25 ng/ul (please provide DNA concentration)
If providing DNA, please provide name and CLIA # of lab performing blood extraction
For familial known variant and carrier testing, sample requirements are either:
4-8 ml of whole blood (3–5ml for an infant) in a lavender top tube (K2EDTA or K3EDTA)
10 ug of DNA at a minimum concentration of 25 ng/ul (please provide DNA concentration)
If providing DNA, please provide name and CLIA # of lab performing blood extraction
A saliva or buccal swab sample. Please contact the lab at 617-768-8500 or lmm@partners.org for collection kits.