Test Requirements

We strongly encourage Trio Testing (proband AND parental samples) for significantly increased utility of clinical reports. At a minimum, we suggest submission of a parental sample along with the proband sample to perform allele segregation analysis on variants of interest that were found in the proband. Comprehensive patient information on the medical history of the proband and his family are critical for quality variant analysis and interpretation.

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Whole Blood

2-4mL of whole blood in a purple top EDTA tube (2 tubes per patient is preferred). For infants, we require a minimum of 1mL of blood. The tube(s) must be labeled with at least two patient identifiers (patient name/submitter ID number and date of birth). Ship blood tube(s) overnight at room temperature in an insulated container within five (5) days of collection.

Genomic DNA

10µg of purified gDNA with a minimum of 75ng/µL and a 260/280 purity ratio of 1.75-2.0 in a screw cap tube. The tube must be labeled with at least two patient identifiers (patient name/submitter ID number and date of birth). Ship gDNA overnight at room temperature. We do not accept products of genome amplification or other amplification reactions.

Buccal Swabs/Saliva

We accept buccal swabs and saliva samples collected in Oragene◦DxDNA® collection kits following the manufacturer's instructions. To request a test kit please contact Jaime Wendt Andrae at (414) 456-2550 or via email at jwendt@mcw.edu.

Fresh Frozen Tissue Specimens

50mg of fresh tissue frozen within minutes after collection and stored at -80 degrees C. The specimen must be labeled with at least two patient identifiers (patient name/submitter ID number and date of birth). Ship tissue specimen(s) frozen on dry ice to arrive Monday-Friday.

Fresh (Unfixed) Tissue Slides from Biopsy or Autopsy

At least two (2) slides frozen within minutes after collection and stored at -80 degrees C. The specimen must be labeled with at least two patient identifiers (patient name/submitter ID number and date of birth). Ship tissue specimen(s) frozen on dry ice to arrive Monday-Friday. Due to the low yield of DNA derived from slides, testing for no more than two (2) variants is recommended (CCS–PRO or CCS–KFV).

Cultured Cells

2 T25 flasks near confluence, sterile or cell pellets from 2 T25 fresh frozen at -80 degrees C with no media. Live cultures must be topped off with sterile medium immediately before shipping. Please state tissue of origin. Specimen must be labeled with at least two patient identifiers (patient name/submitter ID number and date of birth). Ship flasks with live cultures overnight at room temperature and fresh frozen cell pellets on dry ice to arrive Monday-Friday.

Forms

Sample Submission Form for Diagnostic Sequencing Services (PDF)

Advance Beneficiary Notice of Non-Coverage (ABN) (PDF)

Consent Form for Release of Clinical Sequencing Data (PDF)

Genomic Sciences and Precision Medicine Center (GSPMC)

Test Requirements