6/24/2014 J.E. Invoice: 1. Exome sequencing: This is $1000 each. Right now I only have JE's saliva sample for sequencing. If he wants to submit the kits I provided him with, it will be $1000 for each additional sample. = $1000 (+ $1000 for every additional exome for other people submitting saliva samples) 2. Exome sequencing of JE's fibroblasts: I discussed with JE the research significance of comparing his exome data on blood with his fibroblast cell lines (which I already have frozen down in liquid nitro at Boston Childrens Hospital). Sequencing this cell line would be an additional $1000. I'm going to try my best to get it in with this sequencing run but because they are cells, that may be tricky. (They'll get in the next round if they don't make this one.) = $1000 3. iPS cell lines: We've discussed making adult stem cells from JE's fibroblast cells. If we do this, he, like George Church, would be one of very few people in the world to have this done. With multiple cell passages, the process takes a minimum of 6 months and there's no guarantee it will work — but the failure rate is probably around 1 in 6 or less and eve in those instances, we can still do it — it would just take more time and some additional funds for reagents. Price = $10,000. This is pretty much at cost given the labor and reagents. I only know of 1 commercial group providing this service — and they charge more than $10,0001 induced pluripotent cell line. = $10,000 4. Whole genome sequencing through Illumina: I won't be able to send this on to Illumina until JE completes the second consent form which should be available in 1-2 weeks. If he wants to send it ahead of time though, I guess that's fine. = -411,400 for rapid turnaround I don't know if JE's parents are living — but if he wanted to include them (which greatly aids my genome analysis to have that data to compare), the cost would be $21,000. See: http://www.illumina.corn/clinical/illumina_clinical_laborator