Specimen Handling | Clinical Genomics Laboratory – Cytogenetics

Specimen handling depends on the type of study and specimen. Please refer to the detailed specimen instructions below. Refer to the contact page for sample drop-off locations.

Prenatal
Products of conception (POC)
Constitutional
Cancer

Each specimen must be accompanied by a completed requisition that provides:

Patient’s name, date of birth, gender, address, and insurance information
Specimen type, time/date of specimen collection, and test desired
Clinical indications, history, and therapy
Referring physician’s name (not resident’s), phone/fax/pager numbers, and address

NOTE: improper specimen and incomplete requisition form could cause delay in process or unsuccessful in analysis.

PRENATAL

Amniotic Fluid (Amniocentesis)

Notes	Note the gestational age in weeks; Uniquely identify twins.
Collection	Discard first 2mL of amniotic fluid. Collect 15-25mL in a sterile syringe.
Processing	Use sterile technique to transfer to 15mL sterile screw-top plastic conical tubes for transport. Do not centrifuge.
Shipping	Maintain at room temperature or refrigerate if sample cannot be delivered within 24 hours. Specimen must be received within three days of collection. Send to IOH 4701 Core Lab or SLCH Central Receiving for delivery to Lab ASAP.

Chorionic Villi Sampling (CVS)

Notes	Note the gestational age in weeks; Uniquely identify twins.
Collection	Collect 15-40mg of budding villi in 50mL screw-top plastic conical tubes in sterile transport media (provided by cytogenetics lab)
Processing	Do not centrifuge.
Shipping	Maintain at room temperature or refrigerate if sample cannot be delivered within 24 hours. Specimen must be received within three days of collection. Send to IOH 4701 Core Lab or SLCH Central Receiving for delivery to Lab ASAP.

Percutaneous Umbilical Blood Sampling (PUBS)

Notes	Cordocentesis; periumbilical blood sampling; or fetal blood.
Collection	Collect 1-3mL in sterile, 15mL sodium heparin (green-top) Vacutainer tube. Collect under ultrasound guidance.
Processing	Invert tube immediately upon completion of blood collection to prevent formation of clots.
Shipping	Maintain at room temperature. Send to IOH 4701 Core Lab or SLCH Central Receiving for delivery to Lab ASAP.

PRODUCTS OF CONCEPTION (POC)

NOTE: Prefer dual specimens (villi and fetal tissues); must specify type of specimen submitted.

Skin

Notes	Uniquely identify twins
Collection	Collect 3-4mm² skin biopsy (about the size of a pencil eraser) and place in 50ml tube with transport media (provided by the cytogenetics lab).
Shipping	Maintain at room temperature or refrigerate if sample cannot be delivered within 24 hours. Specimen must be received within three days of collection. Send to IOH 4701 Core Lab or SLCH Central Receiving for delivery to Lab ASAP.

Villi

Notes	Villi are specimen of choice, but amniotic fluid is acceptable; Uniquely identify twins.
Collection	Collect 1 cm² placenta by sterile procedure, and place in 50ml tube with transport media (provided by the cytogenetics lab).
Shipping	Maintain at room temperature or refrigerate if sample cannot be delivered within 24 hours. Specimen must be received within three days of collection. Send to IOH 4701 Core Lab or SLCH Central Receiving for delivery to Lab ASAP.

CONSTITUTIONAL

Peripheral Blood

Notes	For CMA studies both sodium heparin (green-top) AND EDTA (purple-top) tubes are required.
Collection	Infants, 1-2mL; Children, 3-5mL; Adults, 5-10mL; Collected into a sterile sodium heparin (green-top) Vacutainer tube.
Processing	Invert tube immediately upon completion of blood collection to prevent formation of clots.
Shipping	Maintain at room temperature or refrigerate if sample cannot be delivered within 24 hours. Samples should be no more than 48 hours old. Send to IOH 4701 Core Lab or SLCH Central Receiving for delivery to Lab ASAP.

Buccal Swab Sample

Notes	Buccal swabs are accepted for CMA studies only. Please contact us to request a buccal swab kit.
Collection	Instructions for obtaining an adequate sample are included in the kit.
Processing	Return via mailer included in the kit.
Shipping	Maintain at room temperature or refrigerate if sample cannot be delivered within 24 hours. Samples should be no more than 48 hours old. Send to IOH 4701 Core Lab or SLCH Central Receiving for delivery to Lab ASAP.

Skin

Collection	Collect 3-4mm² skin biopsy (about the size of a pencil eraser) and place in 50ml tube with transport media (provided by the cytogenetics lab).
Shipping	Maintain at room temperature or refrigerate if sample cannot be delivered within 24 hours. Send to IOH 4701 Core Lab or SLCH Central Receiving for delivery to Lab ASAP.

CANCER

Hematologic Specimens

Notes	Spicule-rich bone marrow aspirate; peripheral blood; bone core biopsy; lymph node; or effusion. (Bone marrow is specimen of choice for leukemia. Peripheral blood could be the choice for CLL).
Collection	Collect 1-2 mL bone marrow; 5-10 mL blood; 0.5-1 cm² biopsy (bone core; lymph node). Collect bone marrow or blood in a sodium heparin (green-top) Vacutainer.
Processing	Invert tube immediately upon completion of blood collection to prevent formation of clots. For bone marrow it is important that a first draw, spicule-rich sample be collected.
Shipping	Maintain at room temperature or refrigerate overnight if necessary. Send to IOH 4701 Core Lab or SLCH Central Receiving for delivery to Lab ASAP.

Solid Tumor, Neoplastic Tissue

Notes	Inform the lab prior to surgery or needle aspiration to facilitate optimal specimen collections and culture set up.
Collection	Collect 3-4 mm²biopsy (about the size of a pencil eraser) in a sterile, screw-top container filled with transport media (provided by cytogenetics lab).
Processing	Ensure the container is tightly sealed to prevent leakage.
Shipping	Maintain at room temperature or refrigerate if sample cannot be delivered within 24 hours. Send to IOH 4701 Core Lab or SLCH Central Receiving for delivery to Lab ASAP.

Paraffin Embedded Tissue (for FFPE FISH)

Notes	Solid tumors, biopsies, etc.
Collection	Tissue fixed in 10% neutral buffered formalin. Preferred fixation duration of 6-48 hours
Processing	Place pieces of 4-5 micron thick fixed tissue sections on positively charged slides. Deliver 4 unstained slides per test ordered plus 1 H&E slide marked with region(s) of interest per case/biopsy.
Shipping	Maintain at room temperature. Send directly to lab or to BJC IOH Histology laboratory.