Services:

Amniotic Fluid Cytogenetic Analysis

This prenatal test (at about 15-16 weeks gestation) combines the examination of clones and of cells from a mass culture, which helps the interpretation of mosaic cases and provides the best banding resolution, respectively. The complete Analysis includes:

• NUMBER OF G-BANDED CELLS EXAMINED: 15-20.
• TYPE OF BANDING: G-banding routinely used. R-, Q-, C-, NOR-, DA-DAPI- bandings as needed.
• BANDING LEVEL: 400-550 bands.
• KARYOTYPES: 6 G-banded cells completely analyzed. Two cut karyotypes. Panels of chromosomes as needed.

NOTE: Cells can be grown for additional biochemical or genetic tests. Interphase FISH and FISH Analysis can be done on request or as adjunct to diagnosis.

Neoplastic Bone Marrow or Blood Cytogenetic Analysis

This Analysis is for the detection of acquired chromosome anomalies in leukemia or lymphoma includes:

• NUMBER OF G-BANDED CELLS EXAMINED: 20-30.
• TYPE OF BANDING: G-banding routinely used.
• BANDING LEVEL: variable, depending on type of neoplasia.
• KARYOTYPES: 20 G-banded cells completely analyzed. Two cut karyotypes.

Tumor Cytogenetic/Molecular Analysis

This Analysis for the detection of acquired chromosome anomalies in solid tumors includes:

• NUMBER OF G-BANDED CELLS EXAMINED: 20-30.
• TYPE OF BANDING: G-banding routinely used.
• BANDING LEVEL: variable, depending on type of tumor.
• KARYOTYPES: 20 G-banded cells completely analyzed. Two cut karyotypes.
• RT-PCR assays for synovial sarcoma, Ewing's sarcoma, lipoma, chondrosarcoma and rhabdomyosarcoma to test for the presence of fusion genes.

Chorionic VILLI Cytogenetic Analysis

This prenatal test, which is carried out at about 10-11 week gestation, is based on a direct preparation for a preliminary diagnosis at 24 hours and a long-term culture for a definitive diagnosis. The complete Analysis includes:

• NUMBER OF G-BANDED CELLS EXAMINED: 20.
• TYPE OF BANDING: G-banding routinely used. R-, Q-, C-, NOR-, DA-DAPI- bandings as needed.
• BANDING LEVEL: 400-450 bands.
• KARYOTYPES: 6 G-banded cells completely analyzed. Two cut karyotypes. Panels of chromosomes as needed.

Solid Tissue Cytogenetic Analysis

This Analysis, which is done on skin samples (e.g., to further evaluate a case of mosaicism), on abortus or autopsy material (e.g., in cases of spontaneous abortion or stillborn), includes:

• NUMBER OF G-BANDED CELLS EXAMINED: 20.
• TYPE OF BANDING: G-banding routinely used. R-, Q-, C-, NOR-, DA-DAPI- bandings as needed.
• BANDING LEVEL: 400-550 bands.
• KARYOTYPES: 5 G-banded cells completely analyzed. Two cut karyotypes. Panels of chromosomes as needed.

FISH and PCR Tests

• Fluorescence in situ hybridization (FISH) tests (including Telomere FISH and spectral karyotyping) are usually done in conjunction with Cytogenetic Analysis to further identify chromosomal rearrangements. However, in some cases (known deletion syndromes), a FISH only test may be done.
• Interphase FISH testing is done for hematologic disorders in Bone Marrow, for bladder cancer recurrance in Urine and for aneuploidy in Amniotic Fluid.
• PCR testing is done for the detection and characterization of Y chromosome disorders including the detection of Y chromosome deletions associated with infertility in males.
• PCR testing is also done for the identification of soft tissue tumors (sarcomas, see above)

Additional Information

For additional information regarding Cytogenetics services and pricing, please call (206) 598-4488. After hours,
weekends and holidays, our recorded message will instruct you to call the UWMC paging operator at (206) 598-6190
to have the Cytogenetics faculty member on-call paged. We are prepared to accept samples 24 hour/day, 7 days/week.