Clinical Cytogenetics Test Menu

General Comments: The Clinical Cytogenetics Laboratory is open from 8 AM to 5:30 PM weekdays. Should an emergency arise after 5:30 PM , or on weekends or holidays, Dr. Arthur can be reached on pager 102-10334.
All specimens for cytogenetic testing should be collected using sterile technique. Specimen containers should be labeled immediately with the patient's name and identification number as a minimum. All specimens should be kept at room temperature and transported to the laboratory as soon as possible, always within 24 hours of collection.
Turnaround times given below are averages. If results are needed sooner for diagnosis/patient management, arrangements can be made by calling Dr. Arthur or the laboratory. If cases are highly complex, or require additional staining techniques, results may take longer.
If you have any questions about specimen requirements or cytogenetic testing, please call
Dr. Arthur at 301-435-3712 or the Clinical Cytogenetics Laboratory at 301-435-3711.

1. Peripheral Blood - Constitutional Karyotype

Description: High-resolution G-banded karyotype analysis for the detection of constitutional numerical or structural chromosome abnormalities.
Specimen Requirements: Peripheral blood collected in a green top ( sodium heparin) tube or sodium heparinized syringe. Volume: minimum 3 ml for newborns, 5 ml for infants and small children, 7-20 ml for adults. NOTE: Larger volumes may be needed from patients who are lymphopenic or immunodeficient.
Turnaround Time: 20 business days.

2. Peripheral Blood - Cancer Karyotype

Description: G-banded karyotype analysis for detection of acquired numerical and structural chromosome abnormalities in patients with hematologic malignancies with high numbers of circulating neoplastic cells.
Specimen Requirements: Peripheral blood collected in a green top ( sodium heparin) tube or sodium heparinized syringe. Volumes will vary with the peripheral blast counts; on average 10 ml for children and 20 ml for adults are required.
Turnaround Time: 15 business days.

3. Skin - Constitutional Karyotype

Description: G-banded karyotype analysis for the detection of constitutional numerical or structural chromosome abnormalities in patients suspected of having mosaicism or whose blood is suboptimal for cytogenetic testing.
Specimen Requirements: 3-4 mm punch biopsy in a tube containing 1-2 ml sterile tissue culture medium or sterile saline.
Turnaround Time: 30 business days.

4. Bone Marrow - Hematologic Disorder/Cancer Karyotype

Description: G-banded karyotype analysis for the detection of acquired numerical and structural chromosome abnormalities in patients with hematologic disorders or malignancies primarily involving the marrow.
Specimen Requirements: 2-3 ml cellular bone marrow aspirated into a syringe containing 0.1 ml sodium heparin (1000 units/ml) per ml of marrow. If the marrow is not aspirable, a 1.0-1.5 cm trephine core biopsy may be submitted in a tube containing 1-2 ml sterile tissue culture medium or sterile saline.
Turnaround Time: 15 business days.

5. Neoplastic Tissue - Cancer Karyotype

Description: G-banded karyotype analysis of tissues such as lymph nodes, spinal fluid, effusions, or non-hematologic solid tumors for the detection of acquired numerical and structural chromosome abnormalities.
Specimen Requirements: Optimally, a minimum of 40 million viable cells should be submitted; i.e., . 1.0 cm solid tissue or as much CSF or effusion as possible depending upon the blast counts. Solid tissue should be submitted in a tube containing 1-2 ml sterile tissue culture medium or sterile saline.
Turnaround Time: ~20 business days

Last Updated 1/12/2009 3:42:49 PM