Genetic Sequencing Specimen

Next-generation sequencing is a rapidly evolving and complex methodology that can examine multiple regions of genomic tumor DNA in a single assay. Many hematologic neoplasms are characterized by morphologic or phenotypic similarities but can have characteristic somatic mutations in many genes. In addition, many myeloid neoplasms lack a clonal cytogenetic finding at diagnosis (normal karyotype) but can be diagnosed and classified according to gene mutation profiles. The presence and pattern of gene mutations can provide critical diagnostic, prognostic, and sometimes therapeutic information for the managing physician(s).

Specimen Collections

To obtain optimal service, we request that you provide a complete and accurate patient history on the submission form, including relevant clinical and radiologic images.

Results are generally available within 10 to 15 days of the specimen’s arrival. No specimens are rejected, but physicians are notified upon receipt of inadequate specimens.

Specimen Types

Submit only one specimen type.

Hematology Specimens
Oncoscreen or Oncoplus

Specimen type: peripheral blood
Preferred: lavender top (EDTA)
Specimen volume: 200µL-5 mL
Specimen stability: ambient

Collection instructions:

  1. Invert several times to mix blood.
  2. Label specimen as blood.
  3. Send specimen in original tube.

OR

Specimen type: bone marrow aspirate
Preferred: lavender top (EDTA)
Specimen volume: 200µL-5 mL
Specimen stability: ambient

Collection instructions:

  1. Invert several times to mix bone marrow.
  2. Label specimen as bone marrow.
  3. Send specimen in original tube.

Solid Tumors
OncoScreen

Specimen type: FFPE (formalin-fixed, paraffin-embedded) tissue
Acceptable: paraffin block
Specimen volume: tumor area on slides = 0.1 cm2 total
Specimen stability: ambient

Collection instructions:

  1. Include top and bottom H&E guide slides.
  2. Label specimen as FFPE with source of specimen. 

OR

Specimen type: cytology smear (fine needle aspirate and fluid smears), alcohol fixed or air dried
Acceptable: cell block
Specimen volume: 3,000+ cells minimum proportion of tumor cell 20 percent
Specimen stability: ambient

Collection instructions:

  1. Stain with DiffQuick® or rapid Pap stain.
  2. Do not use a cover slip.
  3. Label specimen as cytology smear with source of specimen.

OR

Specimen type: extracted DNA
Container/tube: 1.5 or 2 mL tube with indication of volume and concentration of DNA
Specimen volume: entire specimen
Specimen stability: frozen/refrigerated/ambient

Collection instructions:

Label specimen as extracted DNA and include source of specimen.

Oncoplus

Specimen type: FFPE (formalin-fixed, paraffin-embedded) tissue
Acceptable: paraffin block
Specimen volume: tumor area on slides = 2 cm2 total
Specimen stability: ambient

Collection instructions:

  • Include top and bottom H&E guide slides.
  • Label specimen as FFPE with source of specimen. 

OR

Specimen type: cytology smear (fine needle aspirate and fluid smears), alcohol fixed or air dried
Acceptable: cell block
Specimen volume: 10,000+ cells, minimum proportion of tumor cell 20 percent
Specimen stability: ambient

Collection instructions:

  • Stain with DiffQuick® or rapid Pap stain.
  • Do not use a cover slip.
  • Label specimen as cytology smear with source of specimen.

OR

Specimen type: extracted DNA
Container/tube: 1.5 or 2 mL tube with indication of volume and concentration of DNA
Specimen volume: entire specimen
Specimen stability: frozen/refrigerated/ambient

Collection instructions:

  • Label specimen as extracted DNA and include source of specimen.

Delivery Instructions

Specimens should be delivered to the Molecular Pathology Laboratory within 48 hours of collection.
The driver should deliver to:

UChicago Medical Laboratories
Molecular Pathology Laboratory
Room J-601
5812 South Ellis St.
Chicago, IL 60637
Phone: 773.702.3611

The delivery information should be on the outside of the package. Include a printed submission form so that the sample can be identified and there is no delay in processing it once it arrives.