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:
1p36 deletion
4p-
5p-
15q11.2-12 duplication
22qter deletion (SHANK3)
Angelman
Cri-du-chat
DiGeorge
Kallman
Male detection (SRY)
Miller-Dieker (Lisencephaly)
Phelan McDermid
Prader-Willi
SHOX
Smith-Magenis
SRY
Steroid sulfatase deficiency (STS)
Velocardiofacial (VCF)
Williams (elastin)
Wolf-Hirschhorn

Please call a genetic counselor before ordering:
Acrocentric p-arm
X centromere
X inactivation locus (XIST)
Xp22
Y centromere
Yp11.3
Yq12

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