Cytogenetics Specimen Requirements

Amniotic Fluid (AF)

• Collect in sterile centrifuge tubes (Corning #430055)
• Transport at room temperature
  Chromosome analysis requires 15-20 mL
  FISH requires 4 mL
  Microarray on uncultured fluid requires: 8 ml

Peripheral Blood

• Draw whole blood in sodium heparin tube (green or tan top)
• Results are NOT guaranteed for blood collected in lithium heparin or EDTA
• Transport at room temperature

For chromosome analysis:

• Infant: 1-2 mL
• Child: 1-3 mL
• Adult: 5 mL

For Fluorescence in situ hybridization (FISH):

• Infant: additional 0.5 mL
• Child: additional 0.5 mL

For microarray: Submit 1 ml regardless of patient age

Percutaneous Umbilical Blood Sample (PUBS)

• Collect in sodium heparin (green or tan top)
• Results are NOT guaranteed for blood collected in lithium heparin or EDTA
• Transport or store at room temperature

• Chromosome analysis requires: 1-2 ml

  FISH requires: 0.5 ml

  Microarray requires: 0.5-1.0 ml

Chorionic Villi (CVS)

Transport at room temperature

Requirements:

• Chromosome analysis: 20 mg
• FISH: 3 mg
• Microarray on uncultured villi: 4 mg

Products of Conception

Submit only viable tissue

Chromosome analysis or microarray:

• Submit fetal tissue, placenta, or villi for chromosome analysis
• Submit 3-5 FFPE scrolls (10-50 um thickness) for microarray
• Collect specimen in sterile saline or conical tube with sterile saline, HBSS, PBS, or transport media
• Same day transport at room temperature or store overnight at 4C

Bone marrow or neoplastic blood

• Collect in sodium heparin
• Transport / store at room temperature
• For chromosome analysis: 2 ml bone marrow or 3 ml blood
• For FISH: 1-3 ml bone marrow or 3 ml blood

Solid tumors

• Collect specimen in sterile saline or conical tube with sterile saline, HBSS, PBS, or transport media
• Transport at room temperature or store overnight at 4C
• For chromosome analysis: Submit fresh, viable tissue
• For FISH: Submit 2 USS (no bakes) and 1 marked H&E slide
• For microarray: Submit 3-5 FFPE scrolls (10-50 um thickness) or 10-15 USS + 1 marked H&E for microarray

• Percentage of tumor nuclei must be indicated on requisition form

Send samples with completed requisitions to:

Brigham and Women's Hospital
Center for Advanced Molecular Diagnostics (CAMD)
Clinical Cytogenetics Laboratory
75 Francis Street
SH5-5032
Boston, MA 02115

Contact Information

• For questions call CAMD at 857-307-1500
• Specimen receipt: Monday - Friday, 7am-6pm and Saturday, 8am-4pm
• After hours, page the Fellow-on-call at 617-732-5700, #13125