Retinoblastoma Sample Preparation

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

Sample Requirements

For US customers please note that If sending extracted DNA for analysis please ensure that DNA sample is provided from a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or the CMS.


  • 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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