Specimen Collection Instructions

Submitting a sample for Molecular Studies
(DNA-based testing)

Please send ONE of the following types of specimens:

  • PREFERRED:  EDTA whole blood (purple top): 7 cc (3 cc for newborns).  Whole blood may be stored at 4°C until shipped and is stable for 3-5 days in the refrigerator.
  • Extracted DNA:  See table below for minimum requirements

Extracted DNA Requirements

Sequence analysis requested Amount of DNA needed Minimum concentration
Single site (known familial mutation or variant) 5 µg ≥200 ng/µl
Single gene, +/- array (del/dup) 5 µg
Gene panels, +/- array (del/dup) 10 µg

Testing may not be initiated on submitted samples that are below the minimum amount and/or concentration.

Blood samples (or DNA) should be well labeled with patient’s full name and an identifying number.

Ship overnight (Monday through Friday delivery) at room temperature.

Note: Skin biopsies are accepted, but additional paperwork is required as cells are cultured through the UW Medicine Cytogenetics LaboratoryPlease complete the Cytogenetics Test Requisition Form (select “Grow cell cultures for sendout”) and submit with the skin biopsy.  Please contact us for more information about sending a skin biopsy or cultured fibroblasts.

Submitting a sample for Prenatal Testing:

Amniocytes: Two confluent T-25 flasks of cultured amniocytes, well-labeled as Prenatal Sample.   Please call ahead to notify the CDL that a prenatal sample will be coming.

Please note that if amniocytes need to be cultured before DNA extraction this will delay the testing by one or two weeks.
CVS Cells:  Two confluent T-25 flasks of cultured CVS cells, well-labeled as Prenatal Sample.

For all samples:

Please be sure that patient identification is clearly labeled directly on every sample tube and that it matches the requisition form.

For extracted DNA samples please include volume and concentration.

All sample types can be shipped at ambient temperature via an overnight courier.