Specimen Requirements

Collect 2–5 mL per tube (minimum 1 mL) in lavender-top EDTA tubes. Two tubes are recommended for identity confirmation.

Gently invert tubes 8–10 times to mix. Do not freeze or refrigerate; keep at room temperature and ship within 24 hours.

Requisition forms must list two identifiers (patient name and DOB or MRN) that match the tube labels.

Whenever possible, submit parental samples alongside the proband to enable trio analysis.

DNA extracted in a CLIA-certified laboratory may be submitted in place of whole blood (minimum 2 μg at 20 ng/μL). Ship in a screw-cap tube clearly labeled with specimen ID.

Saliva may be collected for confirmatory testing using Oragene DX OGD-500 kits only. Ensure the funnel cap is fully closed and the collection date is recorded.

Clearly indicate the specimen type on the requisition form. Non-standard specimen types require pre-approval from the laboratory.

Buccal swabs are accepted only for targeted follow-up testing, not for initial rapid whole genome sequencing.

Use sterile nylon-flocked swabs (two per individual). Rub each swab firmly along the inner cheek for 30 seconds, rotating to maximize cellular collection.

Allow swabs to air-dry for at least 30 minutes before placing them in a labeled, ventilated transport sleeve.

Do not refrigerate or freeze buccal swabs. Ship at ambient temperature within 24 hours of collection.

Include the completed requisition form, consent documents, and any relevant clinical notes with every shipment.

Place tubes inside absorbent material and a secondary leak-proof container. Use insulated packaging with a cold pack Monday–Saturday (samples accepted until 3 pm PT).

Ship via First Overnight service. Email tracking numbers to support@inflectionmedicine.com.

The RCIGM team is available to answer questions about ordering, billing, or case status.

Provide the ordering clinician’s direct contact information on every requisition to ensure rapid communication of provisional results.