HHT Sample Preparation

Sample Requirements

Proband:

  • Blood or DNA from blood.

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 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 draw.

DNA from blood:

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

Blood samples for RNA (only if requested):

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

Amniocytes:

  • 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.

CVS:

  • Send CVS tissue in sterile tissue-culture medium at room temperature.

Sample Identification

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

 

HHT Forms   >>