The DNA Resources Core 518 Light Hall Manager: Cara Sutcliffe Faculty Director: Doug Mortlock

You’re collecting patient samples …Now what? DNA extraction from blood or buccal swabs Storage of extracted DNA Secure, but practical database system for managing samples DNA retrieval at a later time, for genotyping samples of interest SNP genotyping service appropriate to your scale and needs Compliant with HIPAA

They are still your samples! Control of samples belongs to the investigator Password-protected, Web-based database Non-authorized personnel cannot access sample information or place requisitions for DNA aliquots “Outsourcing” extraction, storage and organization of DNA samples.

DNA extraction from blood Gentra Puregene reagent system ~350 µg DNA from 10 ml blood Autopure machine Bar coded

DNA archiving DNA tubes: ID #, bar coded Puregene reagent system: Purified DNA is stored dissolved in TE at 4˚. Stable for >10 years

DNA extraction: standard service DNA Extraction from Whole Blood For 10mls (or 20mls) of blood, services include: –logging in and maintenance of sample information in our database, –DNA extraction, –archiving backup blood spot cards and frozen blood aliquots, –DNA quantitation by fluorometry, –one DNA requisition, –storage of extracted DNA for 5 years.

Additional services Lymphoblast immortalization & cell line banking Whole-genome amplification for depleted DNAs Real-time PCR

Genotyping services ABI 7900HT machine (Dan Roden/Pharmacogenetics of Arrythmia Therapy) TaqMan SNP assays Typically >99% accurate Assays-on-demand: Pre-validated SNP assays by ABI Assays-by-design: For “custom” SNPs; need to be validated before use

Genotyping services ABI 7900HT machine (Dan Roden/Pharmacogenetics of Arrythmia Therapy) TaqMan SNP assays Typically >99% accurate Assays-on-demand: Pre-validated SNP assays by ABI Assays-by-design: For “custom” SNPs; need to be validated before use

Genotyping services Service models using the ABI 7900HT genotyping platform: 1. “Full service”: Customer selects Assays-on- demand; core staff set up TaqMan PCR assays in 384 well plates, and scan plates on 7900HT to collect genotypes. ($400 setup + $0.80/genotype) 2. As 1, and core staff assist with designing custom Assays-by-design (inquire) 3. Customer obtains Assays-by-design; core staff perform PCR and scan plates. ($95 setup + $0.80/genotype) 4. Customer is responsible for setting up PCR and scanning plates ($10/plate).

The DNA Resources Core 518 Light Hall Manager: Cara Sutcliffe Faculty Director: Doug Mortlock