HHT Sample Preparation
- 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
- 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.
- Kit available (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).
- 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.
- 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).