Test Blood (EDTA) Saliva (Oragene) Extracted DNA
DNA Extraction and Storage X X
Clinical Genome Sequencing + Interpretation X X
Global Screening Array + Interpretation X X X
Targeted Variant Sequencing (Sanger) X X

Blood or DNA samples may be submitted for analysis for whole genome sequencing.

Blood Sample Requirements

  1. Collect 2-4 ml of whole blood in EDTA (lavender top) tube. 2 EDTA tubes containing 2-4 ml of whole blood per patient preferred.
  2. For infants, collect a minimum of 1 ml of blood.
  3. Label the specimen with at least two identifiers; patient name and date of birth are preferred.
  4. Ship blood in tubes at room temperature in an insulated container.
  5. The specimen should be submitted within 48 hours of collection. Every attempt will be made to process samples older than 48 hours.

Possible reason for sample rejection:  

Coagulated sample, quantity less than one ml, specimen collected in wrong tube or unlabeled sample.

DNA Sample Requirements

DNA Samples are ONLY accepted from CLIA-certified laboratories. You can find more information on CLIA labs here.

Required: CLIA License Number (Federal and state, if applicable)

  • DNA quantitated via spectrometry. Submit a screw cap tube of at least 5ug of purified DNA at a concentration of at least 60ng/ul with a 260/280 purity ratio of 1.75 – 2.0.
  • DNA quantitated via fluorometric assay (PicoGreen). Submit a screw cap tube of at least 3 ug of purified DNA at a concentration of at least 50 ng/ul
  • DNA may be shipped at room temperature. Label the specimen with at least two identifiers; patient name and date of birth are preferred. To maintain clinical level testing, genomic DNA from CLIA laboratories is required. Products of whole genome amplification reactions or other amplification reactions.

Possible reason for sample rejection:  

Degraded sample, sample not extracted in CLIA laboratory or low DNA concentration.