Molecular Diagnostics Lab Specimen Information

Collection Specifications for Chromosome Analysis and FISH (see specifications for microarray analyses below):

Amniotic Fluid (AF)

• Collect in sterile centrifuge tubes (Corning #430055)
• Collect 15-20 mL for chromosome analysis
• Collect an additional 5 mL for FISH
• Ship specimen at room temperature

Peripheral Blood

• Draw whole blood in sodium heparin tube (green or tan top)
• Ship specimen at room temperature
• Do not use lithium heparin or EDTA tubes as they can be toxic to cells and reduce the probability of a successful result

For chromosome analysis:

• Infant: 1-2 mL blood
• Child: 1-3 mL blood
• Adult: 5 mL blood

Fluorescence in situ hybridization (FISH):

• Infant: additional 0.5 mL blood
• Child: additional 0.5 mL blood

Contact the laboratory in advance at 857-307-1500 to test these syndromes by FISH.

Percutaneous Umbilical Blood Sample (PUBS)

• Draw PUBS in a sodium heparin tube (green or tan top)
• Ship specimen at room temperature
• Do not use lithium heparin tubes as they can be toxic to cells and reduce the probability of a successful result
• For chromosomes, please draw 1-3 mL blood

We also require that the sender perform the necessary tests (Kleinhouer-Betke or MCV) to ensure that the specimen is fetal in origin and not maternal. This test is usually submitted to Lab Control and performed by the Hematology Laboratory. The specimen should be sent in an EDTA tube. If the specimen is less than 100% fetal blood and the karyotype is a normal female, then the maternal lymphocyte chromosome polymorphisms may be evaluated by providing a maternal blood sample.

Chorionic Villi (CVS)

• Please contact the Clinical Cytogenetics Laboratory for protocol, 857-307-1500

Blastomeres

• Please contact the Clinical Cytogenetics Laboratory for protocol, 857-307-1500

Tissue

Please send the most viable-appearing portion of the specimen

Chromosome analysis and FISH

• Fetal tissue (send skin or lung tissue), Placenta, POC/villi
• Place the specimen in sterile saline or in a Falcon #3033 tube containing Hanks Balanced Salt Solution and Gentamycin
• This tube may be obtained from the Cytogenetics Laboratory upon request, 857-307-1500
• Same-day shipments of tissue specimens should be kept at room temperature
• Overnight shipments of tissue specimens should be refrigerated

Collection Specifications for Array CGH on FFPE Primary Brain Tumors

• 5 x 10um Scrolls or 5 x 1um cores AND 1 marked H&E slide required. Percentage of tumor nuclei must be indicated on requisition form.

Specimen Collection and Storage for Chromosome Microarray Analysis

*In addition to microarray analysis, a limited karyotype will be concomitantly performed for the detection of balanced, structural rearrangements.

• Send at room temperature. Do not freeze.
• Bio-hazard bags using universal precautions for specimen handling
• Requisition form and appropriate billing form[link to 4.5, Forms and Requisitions page]
• Label all specimen containers with the patient's name, medical record number and date of birth
• Please verify that the appropriate specimen container is used to ensure accurate processing
• Specimen receipt: Monday - Friday, 7 am-6 pm and Saturday, 8 am-4 pm
• After-hours, page the Fellow-on-call at 617-732-5700, #13125

Send samples to:

Brigham and Women's Hospital
Center for Advanced Molecular Diagnostics (CAMD)
Clinical Cytogenetics Laboratory
75 Francis Street
SH5-5032
Boston, MA 02115

Contact Information

For questions call CAMD at 857-307-1500.