Cytogenomic Specimen Submission Requirements

Specimen submission requirements for chromosome analysis

Chromosome Analysis, FISH and Microarray Specimen Requirements – Fresh Samples

Transport all specimen types at room temperature as soon as possible (24 hours for oncology, 24-72 hours for constitutional); Avoid temperature extremes to ensure maximum viability.

FISH and Microarray testing specimen requirements on fresh samples are the same as Chromosome Analysis – Additional specimen is not required when Chromosome Analysis is also ordered.

Reasons for rejection: incorrect collection tube, frozen samples, formalin or other fixed tissue

Peripheral blood for constitutional/reproductive disorders (Sodium heparin required) – 5-10ml in sodium heparin green top (adults), 1-3 ml for (infants) –– All other specimen collection containers may be rejected. Contact the laboratory if there are questions about specimen collection.

Amniotic Fluid – 15-25 ml sterile collection; Include 3 ml of maternal blood in EDTA (lavender) for MCC studies (required for all samples with molecular DNA or microarray testing ordered and recommended for all amniotic fluid samples with the possibility of maternal contamination during specimen collection).

CVS – 10 villi or 10 mg of tissue in sterile saline or transport media

Products of Conception (POC)  – 5-10 mm3 of tissue in sterile transport media, fetal and placental tissue preferred. Include 3 ml of maternal blood in EDTA (lavender) for MCC studies (required for all POC chromosome analyses and microarray testing)

Stillborn – 5-10 mm3 of fetal tissue, preferably several sample types (organ biopsy, cord, placenta, if available amniotic fluid and cord blood produce superior results)

Skin Biopsy – standard skin punch in sterile saline; Use alcohol to clean area. Do not use iodine.

Bone marrow – 2-3 ml of aspirate in sodium heparin

Leukemic blood – 5ml in sodium heparin; When possible, it is beneficial to do chromosome studies for neoplastic hematologic disorders on bone marrow. Bone marrow studies are more sensitive thus the chances of finding clonal anomalies are more likely. When it is not possible to collect bone marrow, chromosome studies on blood may be useful.

Lymph Node – excision biopsy in sterile transport media; needle core biopsies are accepted yet may not produce results due to small sample size and/or lack of disease

Urine (FISH Only): 30-60 ml of Urine with equal volume of preservative (PreservCyt, 50% Ethanol, CytoLyt); Specimens sent in Saccomanno’s fixative are not recommended.

Extracted DNA –10-20 ul of >25 ng/ul extracted DNA – requires CLIA lab certificate of submitting laboratory and verified method of DNA extraction

Testing may be performed on sample types not listed above. Please contact the laboratory concerning other specimens that may require Cytogenomic testing.


FISH and Microarray Specimen Requirements for Fixed Tissues

Formalin-Fixed Paraffin Embedded Samples

Microarray: 5-10 slides cut 5-10 microns in thickness from the formalin-fixed paraffin block; An H&E stained slide with areas of fetal tissue or tumor is recommended.

Touch Preparations/Smears

FISH: 3-5 slides with touch imprints of lymph node/tumor samples or bone marrow/leukemic blood smears

Bile Tract Malignancy

FISH: Bile tract brushing collected in CytoLyt – deliver to Cytology with Cytogenomics FISH orders/request form

Extracted DNA –10-20 ul of >12 ng/ul extracted DNA – requires CLIA lab certificate of submitting laboratory and verified method of DNA extraction


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