Retinoblastoma Sample Preparation

Retinoblastoma Tumor Collection – Detailed instructions for harvest of fresh retinoblastoma tumor for genetic testing.

Sample Requirements


  • Blood or DNA from blood.
  • Tumor sample if available (fresh or frozen).

Unilateral proband with no family history:

  • Both blood sample and fresh or flash-frozen tumor sample are necessary for complete analysis.

Pre/peri-natal sample options:

  • Cultured amniocytes
  • Direct amniotic fluid
  • DNA extracted from amniocytes
  • CVS tissue
  • DNA extracted from CVS
  • Cord blood.

Maternal blood or DNA from blood (required for all pre/perinatal samples, to be submitted at same time or prior to procedure).

Genetically related family member for known mutation:

  • Blood or DNA from blood;
  • Or buccal swab (select cases only, contact lab directly to confirm if appropriate sample).

If genetic testing has been performed at a lab other than Impact Genetics, please provide copy of relative report.

Sample Preparation Instructions

Blood samples for DNA:

  • 10 mls in yellow-topped ACD tubes or lavender-topped EDTA tubes (for infants 2-5 mls in pediatric or small tubes) at room temperature, to be received within 5 days after

DNA from blood:

  • DNA concentration—100 nanograms/microliter
  • DNA quantity—150 microliters

Blood samples for RNA:

  • 10 mls in lavender-topped EDTA tubes (for infants 2-5 mls in pediatric or small tubes) on 4°C cool packs, to be received within 48 hours after draw.

Buccal swab:

  • Kit available upon request (select cases only contact lab directly to request); follow included instructions.


  • Two T25 flasks of cultured amniotic cells or DNA extracted from amniotic cells at room temperature (100 nanograms/microliter: minimum 20 microliters)

Direct amnio:

  • As much volume as possible in conical tube at room temperature, to be received within 48 hours after draw.


  • Send CVS tissue in sterile tissue-culture medium at room temperature or DNA extracted from CVS tissue at room temperature (100 nanograms/microliter: minimum 20 microliters).

Fresh tumor in medium
(instructions for enucleating surgeon or pathology lab):

    After removal of an eye containing retinoblastoma,

  • Cut off optic nerve and retain as separate specimen for pathology lab.
  • Open globe by pupillary-optic nerve section as in routine eye pathology.
  • Excise or scoop the bulk of the tumor from inside the eye, leaving tumor-optic nerve and tumor-choroidal relationship undisturbed for pathological evaluation.
  • Place fresh retinoblastoma tumor in a sterile tissue culture media, such as RPMI or Alpha MEM with antibiotic added (100U/ml penicillin and 100ug/ml streptomycin) and seal container securely with parafilm.
  • Tumor may be kept at room temperature until it is ready to be shipped. DO NOT FREEZE tumor in tissue culture.
  • Retain the remainder of the eye for pathology.
  • Send tumor sample at room temperature.

Frozen tumor sample preparation:

  • Flash freeze tumor sample and ship on enough dry ice to keep frozen for maximum transit time.

Sample Identification

  • Use Impact Genetics stickers, or your own to label each sample with at least two patient identifiers (e.g. name and date of birth).


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