Cytogenetics Specimen Submission Requirements

Specimen submission requirements for chromosome analysis

Transport all specimen types at room temperature as soon as possible (24 hours for oncology, 24-72 hours for constitutional), avoid temperature extremes to ensure maximum viability.

Reasons for rejection: incorrect collection tube, frozen samples, formalin or other fixed tissue.


Peripheral blood – 5-10ml in sodium heparin green top (REQUIRED)

Amniotic Fluid – 25ml sterile collection

CVS – 10 villi or 10 mg of tissue in sterile saline or transport media

POC – 5-10 mm3 of tissue in sterile saline or transport media, fetal and placental tissue preferred. Include 3cc of maternal blood in EDTA (lavender) for MCC studies (recommended and performed as reflex for normal female chromosome result)

Stillborn – 5-10 mm3 of fetal tissue, preferably several sample types (organ biopsy, cord, placenta, if available amniotic fluid and cord blood produce superior results)

Skin Biopsy – standard skin punch in sterile saline, use alcohol to clean area, do not use iodine


Bone marrow – 2-3 ml of aspirate in sodium heparin,

Leukemic blood – 5ml in sodium heparin, requires >5% blast count

Lymph Node – excision biopsy in sterile normal saline preferred, needle core biopsies accepted yet may not produce results due to small sample size and/or lack of disease.

Specimen submission requirements for microarray testing

Peripheral Blood – 3 ml in EDTA (lavender) and 1 ml in sodium heparin (green), additional green top not required if chromosome analysis is ordered in conjunction

Amniotic Fluid – 15 ml (in addition to sample for chromosome analysis) for direct testing, cultured cells available when testing ordered as reflex for normal chromosome analysis testing

CVS – cultured cells (see chromosome analysis above), direct testing on CVS is not available

POC and stillborn- cultured cells (see chromosome analysis above), paraffin embedded tissue (15 slides) is available for testing non-viable tissue, Maternal Cell Contamination studies are recommended – please include maternal peripheral blood sample of 3 ml in EDTA (lavender)

Oncology arrays – please contact us for appropriate indications and sample requirements

Specimen submission requirements for FISH testing

  • Sample Requirements same as Chromosome Analysis (see above)
  • Additional sample is NOT required when ordered with Chromosome Analysis
  • Acceptable sample types for FISH without Chromosome Analysis
    checkmarkParaffin Slides, Touch Preps (Preferred), peripheral blood or bone marrow in EDTA or ACD tube
    checkmarkUrine – Urovysion ONLY
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