Sample requirements and preanalytics for genetic testing
Collection, packaging, transport and stability requirements for each sample type across our testing portfolio
This page sets out the sample material, volume, packaging and stability requirements for genetic and genomic testing referred to Medicover Genetics. Requirements are organised by test category and by sample type.
Why can most samples be transported at room temperature?
DNA is chemically stable, so the sample material for most molecular genetic tests can be stored and shipped at room temperature for several days without loss of diagnostic quality.
What sample material and quantity are required for each test category?
Test category | Sample material | Quantity | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Molecular genetic testing, postnatal | EDTA blood | 1–3 ml | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Molecular genetic testing, prenatal | Amniotic fluid Chorionic villi | 15–20 ml 10–30 mg | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Molecular genetic diagnostics, leukaemia and lymphoma | EDTA bone marrow or EDTA blood | 2–5 ml (minimum 10 ml EDTA blood for follow-up examinations) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Molecular genetic diagnostics of solid tumours | Biopsy tissue in formalin (4%, buffered); FFPE tumour block, FFPE slides or FFPE rolls; DNA/RNA from tumour tissue | See sample type requirements below | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Postnatal cytogenetic testing | Heparinised blood | 2–5 ml | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prenatal cytogenetic testing | Amniotic fluid Chorionic villi | 15–20 ml 10–30 mg | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tumour cytogenetics | Heparinised blood or heparinised bone marrow | 5–10 ml | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Molecular genetic diagnostics, HLA markers, KIR diagnostics | EDTA blood | 1 ml | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
What are the collection, packaging and stability requirements by sample type?
Sample type | Collection | Packaging and shipping | Stability |
| EDTA blood (DNA extraction and sequencing) | Collect 1–3 ml blood in EDTA tube (minimum 1 ml for small infants) | Do not freeze. Ship with a frozen ice pack, tightly packed; place a paper towel between the ice pack and the tube if necessary. In sub-zero conditions, include an unfrozen ice pack in the shipping container as insulation. | 48 hours at room temperature (15–25°C); up to 7 days at 4°C |
| BCT tube (cell-free DNA extraction / liquid biopsy) | Collect 20 ml blood in BCT tube | Do not freeze. Ship with an unfrozen gel pack to maintain ambient temperature. | Up to 6 days at room temperature |
| Dried blood spots | Collect 1–3 ml whole blood; place 5–10 drops on each designated circle on the filter paper | Do not freeze. Ship at room temperature. | Up to 6 days at room temperature |
| Buccal swab | Collect using the provided buccal swab collection kit (Copan) | Do not freeze. Ship at room temperature. | Long-term stability at room temperature |
| FFPE tissue (blocks, rolls or slides) | Blocks, rolls, or sliced sections on a slide with the tumour area marked | Do not freeze. Ship at room temperature. | Stable at room temperature |
| DNA extracted from tumour tissue | 100–250 ng total DNA in a maximum volume of 50 µl | Do not freeze. Ship at room temperature. | Stable at room temperature |
| DNA extracted from peripheral blood | 20–50 ng/µl in a 50 µl volume | Do not freeze. Ship at room temperature. | Stable at room temperature |
What are the requirements for cytogenetic, reproductive genetic and haematology-oncology samples?
These disciplines often require culture of living cells. Samples should be sent within 24 hours, via courier service wherever possible, as prolonged storage impairs sample quality. Cooling at 4°C is advantageous but not essential. Samples must not be frozen under any circumstances.
What are the requirements for Rh factor testing samples?
Rh factor analysis is performed on EDTA blood. Samples must reach the laboratory within 48 hours, transported at +2°C to +25°C. Haemolysed samples increase the risk of a false-negative result. If transit will exceed 48 hours, the sample can instead be sent in a Streck tube (Cell-Free DNA BCT) at room temperature.
What are the requirements for NIPT and invasive prenatal diagnostic samples?
NIPT samples can be sent at room temperature and must not be frozen. For invasive prenatal diagnostics performed on chorionic villi or amniotic fluid cell cultures, the maximum shipping time from sample collection is 1–2 days; samples are transported at room temperature and must not be frozen or refrigerated.
What are the requirements for buccal swab and microbiome (ebiom) samples?
Copan buccal swabs are stable at room temperature for the long term. For ebiom samples (Abbott multi-collect swabs and collection tubes), swabs can be stored at room temperature; sample tubes must also be transported at room temperature and must arrive at the laboratory within 7 days of collection.
What is required for preimplantation genetic testing (PGT) samples?
Kits are provided for the partners undergoing testing. Each kit includes specific instructions for sample collection and transport.
Certified laboratories
