Cytogenetics
ARUP performs chromosome and FISH analysis for both constitutional and cancer diagnoses. Patients with indications such as developmental delay, autism, recurrent fetal loss, and multiple congenital anomalies have the option of tests ranging from a classic karyotype analysis, FISH studies for specific microdeletion/microduplication syndromes, or microarray. Patients with confirmed or suspected cancer diagnoses have both chromosome and FISH analyses available to them. These studies may help determine the specific type of cancer present, predict disease course, determine a course of treatment, enable physicians to monitor treatment effectiveness and look for residual disease post-treatment.
| Test # | Test Name | Additional Information | Test Keywords | |
|---|---|---|---|---|
| 2002293 | Chromosome Analysis, Amniotic Fluid | Constitutional Studies | CHR AF, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocyte | |
| 0097688 | Chromosome Analysis, Breakage Syndrome Analysis |
Technical Bulletin Send-out test |
Constitutional Studies | BREAKAGE, Fanconi anemia, Fanconi’s, Fanconis, diagnostic |
| 2002291 | Chromosome Analysis, Chorionic Villus Sampling (CVS) | Constitutional Studies | CHR CVS, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, villi, placenta | |
| 2002289 | Chromosome Analysis, Peripheral Blood | Constitutional Studies | CHR PB, karyotype, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, mental retardation, developmental delay, 45X, 45,X, XXY, XYY, anomalies, birth defects, infertility | |
| 2005763 | Chromosome Analysis, Peripheral Blood, with Reflex to Genomic Microarray | Constitutional Studies | PB REFLEX, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, mental retardation, developmental delay, 45X, 45,X, XXY, XYY, anomalies, birth defects, infertility | |
| 2002288 | Chromosome Analysis, Products of Conception | Constitutional Studies | CHR POC, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, fetus, fetal, villi, placenta, pregnancy loss | |
| 2005762 | Chromosome Analysis, Products of Conception, with Reflex to Genomic Microarray | Constitutional Studies | POC REFLEX, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, fetus, fetal, villi, placenta, pregnancy loss | |
| 2002287 | Chromosome Analysis, Rule Out Mosaicism | Constitutional Studies | CHR R/OM, Turner, Turners, Turner's, 45X, 45,X, mosaic, Down, Downs, Down's, trisomy 21, T21, karyotype | |
| 0097677 | Chromosome Analysis, Sister Chromatid Exchange (SCE) | Send-out test | Constitutional Studies | SCE, Bloom, diagnostic |
| 2002286 | Chromosome Analysis, Skin Biopsy | Constitutional Studies | CHR SKIN, tissue, karyotype, mosaic, mosaicism | |
| 2005749 | Chromosome Analysis—Breakage, Ataxia Telangiectasia, Whole Blood |
Technical Bulletin Send-out test |
Constitutional Studies | BREAKAGEAT, Ataxia Telangiectasia, AT, diagnostic |
| 0040208 | Aneuploidy Panel by FISH | FISH (Constitutional)—Aneuploidy Panels | FISHANEU, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, newborn | |
| 0040203 | Chorionic Villus, FISH | FISH (Constitutional)—Aneuploidy Panels | FISHCVS, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, prenatal, CVS | |
| 2002297 | Chromosome FISH, Prenatal | FISH (Constitutional)—Aneuploidy Panels | CHR FISHP, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, prenatal, amnio, amniotic fluid, Insight, PN FISH | |
| 2002299 |
Chromosome FISH, Metaphase Available probes: Please call a genetic counselor before ordering: |
Please specify which FISH probe you wish to order. |
FISH (Constitutional)—Individual Probes | CHR FISHM, 1p36, 4p-, 5p-, angelman, cri-du-chat, DiGeorge, Kallman, SRY, Miller-Dieker, Lisencephaly, Phelan McDermid, Prader-Willi, SHOX, Smith-Magenis, Steroid sulfatase deficiency, STS, Velocardiofacial, VCF, VCFS, Williams, elastin, Wolf-Hirschhorn, Xp22, Centromere, Yq12, Yp11.3, ichthyosis |
| 2003414 | Cytogenomic SNP Microarray | Genomic Microarray | CMA SNP, array, CGH, aCGH, CNV, mental retardation, developmental delay, anomalies, birth defects, CMA, snip, LOH, UPD, uniparental disomy | |
| 2006267 | Cytogenomic SNP Microarray Buccal Sponge | Genomic Microarray | ||
| 2006325 | Cytogenomic SNP Microarray—Oncology | Technical Bulletin | Genomic Microarray | |
| 2005633 | Genomic SNP Microarray, Products of Conception | Genomic Microarray | ARRAY POC, conception, amnio, amniotic fluid, CVS, villi, cultured cells | |
| 2002366 | Microarray Genomic, Fetal | Genomic Microarray | ARRAY FE, array, CGH, aCGH, CNV, ultrsound anomalies, birth defects, POC, products of conception, amnio, amniotic fluid, CVS, villi, cultured cells | |
| 2004434 | X Chromosome Ultra-High Density Microarray, 954 Genes | Genomic Microarray | X ARRAY, Neurocognitive Impairments, X-linked, mental retardation, developmental delay, seizures, x chromosome | |
| 2002301 |
Microarray Family Study by FISH Used to determine the presence of a known deletion or duplication, previously identified by microarray in a family member. If the original array was not performed at ARUP, contact an ARUP genetic counselor prior to sending the sample. |
Please call a genetic counselor before ordering. | Genomic Microarray (FISH) | ARRAY FAM, Array, CGH, aCGH, parental |
| 2002292 | Chromosome Analysis, Bone Marrow | Oncology Studies | CHR BM, Myelodysplastic, CLL, ALL, CML, AML, MPN, Plasma Cell Dyscrasias, Lymphoma Phenotyping, B-Cell Lymphomas, oncology, cancer, leukemia, MDS, MPS, karyotype | |
| 2002290 | Chromosome Analysis, Leukemic Blood | Oncology Studies | CHR LKB, Chronic Lymphocytic Leukemia (CLL), Acute Myeloid Leukemia (AML), blasts, blast, karyotype | |
| 2002300 | Chromosome Analysis, Lymph Node | Oncology Studies | CHR ONC, biopsy, karyotype, cancer, oncology, lymphoma | |
| 2002296 | Chromosome Analysis, Solid Tumor | Oncology Studies | CHR ST, Sarcoma, Ewings | |
| 2002363 | PML-RARA Translocation by FISH | Oncology Studies, FISH—Blood and Bone Marrow Panels | FISH PML, Acute Myeloid Leukemia (AML), Tumor Markers | |
| 2002647 | Acute Lymphocytic Leukemia (ALL) Panel by FISH, Adult | Oncology Studies, FISH—Blood and Bone Marrow Panels | FISH A ALL, B-Cell Lymphoma | |
| 2002719 | Acute Lymphocytic Leukemia (ALL) Panel by FISH, Pediatric | Oncology Studies, FISH—Blood and Bone Marrow Panels | FISH P ALL, Oncology, Bone Marrow , B-Cell Lymphoma, childhood, child, children | |
| 2002653 | Acute Myelogenous Leukemia (AML) with Myelodysplastic Syndrome (MDS), or Therapy-Related AML, by FISH | Oncology Studies, FISH—Blood and Bone Marrow Panels | F TAML MDS, Myelodysplastic, Acute Myeloid Leukemia | |
| 2002384 | Acute Myelogenous Leukemia Panel by FISH | Oncology Studies, FISH—Blood and Bone Marrow Panels | FISH AML P, Acute Myeloid Leukemia, AML, Myeloproliferative, MPD | |
| 2002295 | Chromosome FISH, CLL Panel | Oncology Studies, FISH—Blood and Bone Marrow Panels | FISH CLLP, Chronic Lymphocytic Leukemia, CLL, Lymphoma Phenotyping, B-Cell Lymphomas, Tumor Markers | |
| 2006270 | Chromosome FISH, Multiple Myeloma Panel Process and Hold | Oncology Studies, FISH—Blood and Bone Marrow Panels | ||
| 2002378 | Eosinophilia Panel by FISH | Oncology Studies, FISH—Blood and Bone Marrow Panels | FISH EOS P, Mast Cell Disease, Eosinophilic Diseases, Acute Myeloid Leukemia (AML), Myeloproliferative Neoplasms (MPN) | |
| 2002650 | Lymphoma (Aggressive) Panel by FISH | Oncology Studies, FISH—Blood and Bone Marrow Panels | FISH ALYMP, Lymphoma Phenotyping, B-Cell Lymphomas, Lymphoproliferative Disorders (LPD) | |
| 2002294 | Multiple Myeloma Panel by FISH | Oncology Studies, FISH—Blood and Bone Marrow Panels | FISH MMP, Plasma Cell Dyscrasias | |
| 2002709 | Myelodysplastic Syndrome (MDS) Panel by FISH | Oncology Studies, FISH—Blood and Bone Marrow Panels | FISH MDS P, Myelodysplastic Syndrome (MDS) | |
| 2002360 | Myeloproliferative Disorders Panel by FISH | Oncology Studies, FISH—Blood and Bone Marrow Panels | FISH MPD P, Chronic Myelogenous Leukemia (CML), Myeloproliferative Neoplasms (MPN) | |
| 2002298 |
Chromosome FISH, Interphase Gene/Probe: CEP 4 CEP 8 CEP 10 +12 CEP 17 DEL (20q) CEP X/Y ALK Break Apart Probe ASS1 ATM BCL6 Break Apart Probe BCR/ABL1/ASS1 CBFB Break Apart Probe CDKN2 CHOP C-myc Break Apart Probe D7S486/CEP 7 (centromere) D13S319 DDIT3 E2A EGR1 ETO/AML1 Fusion EVI1 EVT6/RUNX1 EWSR1 Break Apart Probe FGFR1 FGFR3/IGH FOXO1 IGH Break Apart Probe IGH/BCL2 IGH/CCND1 IGH/MAF MALT1 MLL Break Apart Probe MYC Break Apart Probe P16 P53 PDGFRA PDGFRB PML/RARA RUNX1T1/RUNX1 Fusion SS18 Break Apart Probe SYT Break Apart Probe TCF3 TEL/AML1 TP53 |
Please specify which FISH probe you wish to order. |
Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe | CHR FISHI, Oncology, Bone Marrow, Ewing Sarcoma, Neuroblastoma, Myelodysplastic, MDS, Chronic Lymphocytic Leukemia (CLL), Sarcoma, Acute Lymphoblastic Leukemia (ALL), Chronic Myelogenous Leukemia (CML), Tumor Markers, Acute Myeloid Leukemia (AML), Myeloproliferative Neoplasms (MPN), Plasma Cell Dyscrasias, Lymphoma Phenotyping, B-Cell Lymphomas |
| 2002298 |
Chromosome FISH, Interphase Location: 2p23 ALK rearrangement 3q27 BCL6 rearrangement Chromosome 4 gain or loss 4q12 PDGFRA rearrangement Chromosome 5q deletion 5q32 PDGFRB rearrangement Chromosome 7q deletion/Monosomy 7 Chromosome 8 gain or loss 8p12 8q24 9p21 deletion 9q34 Chromosome 10 gain or loss 11q23 Trisomy 12 14q32 Chromosome 17 gain or loss 17p13.1 deletion 18q11.2 (Synovial sarcoma) rearrangement 19p13 Rearrangement Chromosome 20q Deletion 22q12.2 (Ewing Sarcoma) rearrangement Chromosomes X & Y Centromere del(11)(q22.3) deletion del(13)(q14.3) deletion inv(16)(p13.3q22) CBFB rearrangement t(11;14)(q12;q32) fusion t(12;21)(p13;q22) fusion t(14;16)(q32;q23.1) fusion t(14;18)(q32;q21) fusion t(15;17)(q22;q21) fusion t(4;14)(p16;q32) fusion t(8;21)(q22;q22) fusion t(9;22)(q34;q11.2) Fusion |
Please specify which FISH probe you wish to order. |
Oncology Studies, FISH—Blood and Bone Marrow—by Location | CHR FISHI, Oncology FISH Studies, Blood and Bone Marrow, Ewing Sarcoma, Neuroblastoma, Myelodysplastic Syndromes, Chronic Lymphocytic Leukemia (CLL), Sarcoma, Acute Lymphoblastic Leukemia (ALL), Chronic Myelogenous Leukemia (CML), Tumor Markers, Acute Myeloid Leukemia (AML), Myeloproliferative Neoplasms (MPN), Plasma Cell Dyscrasias, Lymphoma Phenotyping, B-Cell Lymphomas |
| 2002461 | Pancreatobiliary FISH | Oncology Studies, FISH—Other | PF, Pancreatic Cancer, Tumor Markers | |
| 8100600 | UroVysion™ FISH | Oncology Studies, FISH—Other | UF, Bladder Cancer, Tumor Markers, urine | |
| 0049360 | 1p/19q Deletion by FISH | Oncology Studies, FISH—Paraffin Block | 1P19Q, Oncology, Paraffin, Brain Tumors, Tumor | |
| 0049378 | DDIT3 (CHOP) (12q13) Gene Rearrangement by FISH | Oncology Studies, FISH—Paraffin Block | CHOPFISH, Sarcoma, myxoid liposarcoma, round cell liposarcoma | |
| 0049218 | ERBB2 (HER-2/neu) Gene Amplification by FISH | Oncology Studies, FISH—Paraffin Block | HER2FISH, Breast Cancer, Tumor Markers, FISH, herceptin, HER2, HER-2, neu, HER2/neu | |
| 0049335 | EWSR1 (22q12) Gene Rearrangement by FISH | Technical Bulletin | Oncology Studies, FISH—Paraffin Block | EWSR1, Ewing Sarcoma, Sarcoma, Tumor Markers |
| 2001497 | FOXO1 (FKHR) (13q14) Gene Rearrangement by FISH | Oncology Studies, FISH—Paraffin Block | FKHRFISH, Sarcoma, FOX, FOXO1, 13q14, alveolar rhabdomyosarcoma | |
| 2001536 | IGH-BCL2 Fusion, t(14;18) by FISH | Oncology Studies, FISH—Paraffin Block | Plasma Cell Dyscrasias, Lymphoma Phenotyping, B-Cell Lymphomas | |
| 0049381 | IGH-CCND1 Fusion, t(11;14) by FISH | Oncology Studies, FISH—Paraffin Block | IGHCCNFISH, Lymphoma Phenotyping, B-Cell Lymphomas, Tumor Markers | |
| 2001538 | IGH-MYC Fusion t(8;14) by FISH | Technical Bulletin | Oncology Studies, FISH—Paraffin Block | IGHMYCFISH, Lymphoma Phenotyping, B-Cell Lymphomas |
| 2003016 | MDM2 Gene Amplification by FISH | Technical Bulletin | Oncology Studies, FISH—Paraffin Block | MDM2 FISH, Sarcoma, Tumor Markers, MDM2, Murine Double Minute 2 |
| 2002345 | MYC (8q24) Gene Rearrangement by FISH | Technical Bulletin | Oncology Studies, FISH—Paraffin Block | LSIMYCFISH, B-Cell Lymphomas, Tumor Markers |
| 0049235 | MYCN (N-MYC) Gene Amplification by FISH | Technical Bulletin | Oncology Studies, FISH—Paraffin Block | NMYC, Neuroblastoma, Tumor Markers |
| 0049380 | SS18 (SYT) (18q11) Gene Rearrangement by FISH | Technical Bulletin | Oncology Studies, FISH—Paraffin Block | SYTFISH, Sarcoma, Tumor Markers, Synovial Sarcoma |
| 0049234 | EGFR by FISH | Technical Bulletin | Oncology Studies, FISH—Paraffin Block | EGFRFISH, Head and Neck Cancer, Lung Cancer |
| 2006325 | Cytogenomic SNP Microarray—Oncology | Technical Bulletin | Oncology Studies, Microarray |