Cytogenetics

Telephone Numbers:

Laboratory:

FAX:

(617) 636-5841

(617) 636-1256

Supervisor:

Karen Krajewski

(617) 636-5841

Hours:

Monday - Friday 8.00 AM - 5:15 PM

Services:

Karyotype (chromosome) analysis of peripheral blood, bone marrow aspirate, amniotic fluid, skin, tumor.

Fluorescence in situ hybridization (FISH) analysis for constitutional changes, and for cancer

Tissue culture and cell storage.

Requisition Form:

Cytogenetics  (green). 

Patient identification and submitting physician’s name must be present and legible. Source of specimen and patient history must be stated.

Specimens:

Specimens should be kept at room temperature.  If lab is closed when sample drawn, store at room temperature.  If sample is to be shipped, protect from temperature extremes, but do not put on ice.

Blood and bone marrow aspirates: green top, sodium heparin tube.  Mix well to avoid clotting.

Amniotic fluid: Collect in sterile tube.

Skin, tumor, other solid tissue:  keep moist and sterile.  Tissue culture medium can be obtained from lab or use preservative free sterile saline.

Sample:

2-5 cc peripheral blood in sodium heparin green top tube at room temperature

Indications:

Multiple congenital anomalies, trisomy 21, trisomy 18, trisomy13, developmental delay, short stature, history of pregnancy loss, history of infertility (male or female).

Sample:

0.5-1.0 cc aspirate in sodium heparin green top tube at room temperature.

Indications:

R/o leukemia

Sample:

12-15 cc fluid in sterile tube(s) at room temperature.

Indications:

Advanced maternal age, abnormal serum screen, increased risk of trisomy 21

Sample:

Skin biopsy specimens must be FULL thickness.  Samples must be kept moist in tissue culture medium or preservative free saline at room temperature.

Indications:

Tumor, missed abortion, mosaicism

Sample:

No extra sample needed if ordered with karyotype analysis. 

Without karyotype analysis, 2-5 cc blood in sodium heparin green top tube at room temperature.

Probe requested MUST be indicated.  Call lab (x5841) for help if necessary.

If a rush analysis is requested, sample MUST be received in lab by NOON.

Indications:

Trisomy 21, 13 or 18, DiGeorge, Prader-Willi, Angelman, subtelomere analysis.

XX/XY mosaicism, ABL/BCR, PML/RARA, CLL panel, MDS panel.

Sample:

Skin biopsy, umbilical cord

If cells are to be sent out for testing, enclose all paperwork required by the outside testing lab.

Indications:

Metabolic disorders