Standard Cytogenetics
For questions, please call (608) 262-0402
AMNIOTIC FLUID
Includes: In situ culture with examination of 15-20 GTL (Giemsa/trypsin/Leishman)-banded cells from at least 15 independent colonies, two karyograms; additional cells, karyograms and/or other banding procedures are performed if indicated by initial results. Also includes Alpha Fetoprotein (AFP) determination and acetylcholinesterase (AChE) when appropriate.
Specimen and Volume: 15-30 ml of clear, fresh, sterile amniotic fluid.
Container: Two sterile 15 ml centrifuge tubes with screw cap.
Collection: By physician using ultrasound
Normal Range: 46,XX or 46,XY; Apparently normal karyotype. Photograph of a representative karyogram included with report.
Turnaround Time: Results reported in 6-10 days (longer with small volume or bloody specimens.)
Test Code: 850
CHORIONIC VILLUS SAMPLING
Includes: Dissection of material to separate decidua from villi; direct harvest (next business day) with analysis of 5 GTL banded cells and one karyogram, in situ culture with examination of 15-20 cells from at least 15 independent colonies with GTL banding, two karyograms; additional cells, karyograms and/or other banding procedures are performed if indicated by initial results.
Specimen and Volume: At least 5 mg of chorionic villi; taken at 9 through 38 weeks gestation.
Container: Chorionic villus transport kit
Collection: By physician using ultrasound
Normal Range: 46,XX or 46,XY; Apparently normal karyotype. Photograph of a representative karyogram included with report.
Turnaround Time: Direct results reported in 1-3 days; long-term culture reported in 6 to 12 days (depending on specimen size).
Test Code: 855
BONE MARROW
Includes: Cell culture, analysis of 20 GTL banded metaphases for structural and numerical abnormalities. Quality and number of cells may be limited if specimen is not adequate.
Specimen and Volume: 1/2 - 2 ml of early bone marrow aspirate in sodium heparinized tube or syringe (with needle removed).
Container: Bone marrow in media provided or sodium heparinized tube.
Collection: Bone marrow aspirate per physician direction.
Normal Range: 46,XX or 46,XY; Apparently normal karyotype. Photograph of a representative karyogram included with report.
Turnaround Time: Results reported in 3-6 days.
Additional Information Needed: Past therapy, current therapy, tentative diagnosis.
Submission Procedure: Bone marrow should be delivered or mailed as soon as possible.
Test Code: 812
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PROMETAPHASE (HIGH RESOLUTION) BANDING
Includes: Cell culture, examination of 20 GTL-banded cells, two karyograms; additional cells, karyograms and/or other banding procedures are performed if indicated by initial results.
Specimen and Volume: Heparinized blood: 5 ml from adult, 1-2 ml from infant.
Container: Vacuum-type tube with sodium heparin or any sterile tube containing sodium heparin.
Collection: Venipuncture
Normal Range: 46,XX or 46,XY; Apparently normal karyotype. Photograph of a representative karyogram included with report.
Turnaround Time: 10-14 days, STAT specimen reported in 2-3 days
Additional Test Performed: If additional testing is indicated, will perform C-banding or NOR-banding; if initial results suggest mosaicism, a total of 50 cells will be evaluated at no additional charge. If DNA probes are required, there will be an additional charge.
Submission of Specimens: May be submitted by mail or courier service; avoid extreme temperatures, avoid weekend mail.
Test Code: 801
BLOOD FOR HEMATOLOGIC DISORDER
Includes: Cell culture, analysis of 20 GTL banded spontaneously dividing cells in unstimulated cultures. Additional cells, karyograms and/or other banding procedures are performed if indicated by initial results. Quality and number of cells may be limited if specimen is not adequate.
Specimen and Volume: 5 ml heparinized blood.
Container: Vacuum-type tube with sodium heparin.
Collection: Venipuncture per physician direction.
Normal Range: 46,XX or 46,XY; Apparently normal karyotype. Photograph of a representative karyogram included with report.
Turnaround Time: Results reported in 3-6 days.
Additional Tests Performed: If additional banding is indicated, will perform C-banding or NOR-banding. If molecular studies with DNA probes are indicated, there will be an additional charge. If initial results suggest clonal changes, additional cells will be evaluated.
Additional Information Needed: Past therapy, current therapy, tentative diagnosis.
Submission Procedures: Blood should be delivered or mailed as soon as possible.
Note: Bone marrow specimens are more desirable, but when it is not possible, this test may be substituted. Success is contingent on the presence of mitotic immature granulocytes in the peripheral blood.
Test Code: 811
CHROMOSOME ANALYSIS, TUMOR
Includes: In situ and explant culture, with analysis of 20 GTL-banded cells, two karyograms, and additional cells, karyograms and/or other banding procedures performed if indicated by initial results. Quality and number of cells may be limited if specimen is not adequate.
Specimen: Fresh tumor tissue or biopsies, 2 mm or more.
Container: Request kit or submit specimen in sterile vial filled with medium (preferred), or balanced salt solution (i.e. Ringers or Hanks).
Collection: Aseptic technique; deliver in media to lab as soon as possible.
Normal Range: 46,XX or 46,XY; Apparently normal karyotype. Photograph of a representative karyogram included with report.
Turnaround Time: 2-10 days
Limitations: Tissue must be viable
Contraindications: If tissue was frozen or placed in formalin or formaldehyde, see Chromosome-FISH section.
Test Code: 836
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CHROMOSOME ANALYSIS, TISSUE
Includes: In situ culture with examination of 20 GTL-banded cells from 15-20 independent colonies; two karyograms; additional cells, karyograms and/or other banding procedures are performed if indicated by initial results.
Specimen and Volume: Skin, placenta and/or amnion, fascia, lung, kidney, etc. 2-5 mm or more
Container: Request kit or submit specimen in sterile vial filled with medium (preferred) or balanced salt solution (i.e. Ringers or Hanks).
Collection: Aseptic technique; deliver in media to lab as soon as possible.
Normal Range: 46,XX or 46,XY; Apparently normal karyotype. Photograph of a representative karyogram included with report.
Turnaround Time: 10 to 21 days
Limitations: Tissue must be viable
Contraindications: If tissue was frozen or placed in formalin or formaldehyde, see Chromosome-FISH Panel.
Delivery Info: If unable to deliver immediately, store in refrigerator, but do not allow freezing.
Test Code: 831
NOTE: In all tests, chromosomes are banded by trypsin-Giemsa method unless otherwise specified.
Molecular Testing
For questions, please call (608) 261-1030
or 262-0402
METHYLATION-SENSITIVE PCR FOR DETECTION OF PWS AND AS
Includes: Comparison of methylated vs. unmethylated amplifications identifies the presence or absence of the SNRPN allele from both the maternal chromosome 15 and the paternal chromosome 15. MSPCR detects uniparental disomy (UPD) and deletion of SNRPN gene locus of chromosome 15. Note: UPD cannot be detected with regular cytogenetics or FISH.
Specimen: 3-5 ml whole peripheral blood.
Container: Vacuum-type tube with EDTA
Collection: Venipuncture
Turnaround Time: 14-21days
Test Code: 889
MULTIPLEX RT-PCR
Includes: Detection of 28 different translocations or chromosomal rearrangements, including 80 breakpoint or splice variants. Single assays for specific translocations may be requested.
Specimen: 3-10ml whole peripheral blood or 0.5-2ml bone marrow
Container: Vacuum-type tube with EDTA
Collection: Venipuncture
Turnaround Time: 2-7 days
Test Code: 887 (single assay), 888 (full panel)
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FRAGILE X- MOLECULAR
Includes: Lymphocyte separation, DNA extraction, PCR, electrophoresis, and hybridization using investigative DNA probes.
Specimen and Volume: EDTA blood, 5-7ml
Container: EDTA vacutainer
Collection: Venipuncture
Turnaround Time: 1- 3 weeks
Use of Test: To identify Fragile X gene mutation in persons with sex linked mental retardation syndrome and possible carrier status.
Limitations: To rule out other cytogenetic causes, persons suspected of having the Fragile X Syndrome should also have chromosome studies (Test code 827).
Test Codes: Molecular only: 828, with cytogenetics analysis: 827 (includes 801 and 828)
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For questions concerning FISH tests, please call (608) 262-0402
CHROMOSOME FISH - CENTROMERE PROBES
Specimen: 3-5ml whole blood in a sodium heparinized tube, or unstained slides from standard cytogenetics study of blood or tissue.
Turnaround Time: 2-4 days, depending on probe(s) used.
Use of Test: To determine sex chromosome constitution, as an adjunct to standard cytogenetic analysis to check for mosaicism, for detection of monosomy/trisomy.
Test Code: 870
CHROMOSOME FISH- LEUKEMIA/LYMPHOMA, DNA PROBES (IN SITU)
Specimen: Bone marrow slides (unstained) and/or bone marrow aspirate in heparin, and heparinized blood in vacutainer.
Turnaround Time: 2-5 days
Use of Test: Determine presence and frequency of non-dividing cells with specific genetic changes in leukemia, MPD, MDS, or lymphoma; detect presence of suspected cytogenetic changes in cases which were negative on metaphase studies, or to monitor sex mis-matched bone marrow transplants.
Test Code: 870 for monosomy/trisomy, 881 for fusion genes such as BCR/ABL, 882 for oncogene probes such as c-myc.
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CHROMOSOME FISH- MICRODELETION
Specimen: 3-5ml whole blood in a sodium heparinized tube, or unstained slides from standard cytogenetics study of blood or tissue.
Turnaround Time: 3-7 days
Use of Test: To confirm a diagnosis of specific deletion syndromes (e.g., Prader-Willi, DiGeorge, etc.), resolve ambiguity in situations where cytogenetic studies are not diagnostic (e.g., cryptic rearrangements), or check for Y chromosome sequences in XX males.
Test Code: 871 for microdeletion, 874 for translocation
CHROMOSOME FISH- PRENATAL PANEL
Specimen: 2 ml amniotic fluid
Container: Use plastic or glass tubes.
Turnaround Time: 2-3 days
Use of Test: For STAT determination of trisomy in high risk pregnancies, to be confirmed by follow up with standard cytogenetic testing
Test Code: 873
CHROMOSOME FISH- STILLBIRTH PANEL Specimen: Five 4-micron sections of fetal tissue on immunohistochemistry slides, middle section stained with H&E.
Turnaround Time: 7-14 days
Use of Test: In cases where standard cytogenetic studies were unsuccessful or were not performed, to check for trisomy 13, 18, or 21, as well as for X and Y, [and in cases of known familial translocations, to check for presence of unbalanced translocation using specific DNA probes.]
Test Code: 875
CHROMOSOME FISH- TUMOR, HER-2/NEU IN BREAST CANCER
Specimen: Five 4-micron sections on immunohistochemistry slides, with the middle slide stained for H & E.
Turnaround Time: 3-7 days
Use of Test: To determine whether HER-2/neu amplification is present to aid in therapeutic decisions.
Test Code: 883
CHROMOSOME FISH- TUMOR, ONCOGENE OR TRANSLOCATION DETECTION
Specimen: Five 4-micron sections on immunohistochemistry slides, with the middle slide stained for H & E.
Turnaround Time: 3-10 days
Use of Test: To determine aneuploidy, specific genetic losses or gains, ploidy, deletions, c-myc or other gene amplification, etc. Also to check chromosome changes in solid tumors. Call about specific needs.
Test Code: 882 for oncogene determination, 884 for translocations using paraffin embedded tissue.
CHROMOSOME FISH- TELOMERE PANEL
Specimen: 3-5ml whole blood in a sodium heparinized tube
Turnaround Time: 10-14 days
Use of Test: Panel consists of individual subtelomere-specific probes that are valuable for confirming abnormalities suspected by routine cytogenetic analysis, detecting cryptic translocations and testing family members of individuals with known subtelomere rearrangements. Cytogenetic analysis should accompany test (unless done previously)
Test Code: 877 telomere panel with cytogenetics, 878 telomere panel only
University of Wisconsin - Cytogenetic Services Laboratory
