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Cytogenetics/Cytogenomics Laboratory

The Cytogenetics/Cytogenomics Laboratory, located at the UC San Diego Center for Advanced Laboratory Medicine, is a full-service facility providing chromosome, FISH and microarray analysis of prenatal, somatic and cancer specimens, including:

  • Amniotic fluid
  • Chorionic villi
  • Tissues (products of conception, skin biopsies, etc.)
  • Peripheral blood
  • Leukemic blood
  • Bone marrow
  • Solid tumors
  • FFPE (HER2 and lymphoma testing)

Interpretation of test results and counseling for recurrence risk is an integral part of this service.

For instructions on submitting specimens and obtaining order forms, see How to Submit a Specimen.


Chromosomal Analysis

Complete cell culture services and chromosomal analysis on blood, bone marrow, amniotic fluid, chorionic villi and tissue specimens. All studies are performed using a computer-assisted digital imaging and karyotyping system.

Microarray Analysis

High-density oligonucleotide/SNP microarray analysis is performed to detect copy number changes in constitutional, prenatal, solid tumors and leukemic studies.

FISH (fluorescence in situ hybridization) Analysis

FISH analysis for microdeletion syndromes, fetal aneuploidy, neoplastic studies, hematologic disorders and sarcoma, including HER-2 amplification analysis in FFPE. To see a full list of constitutional studies and oncology studies, click below:

List of disorders available for FISH testing

Constitutional Studies

  • 1p36 Microdeletion syndrome
  • Angelman syndrome
  • Cri du Chat syndrome
  • DiGeorge/VCFS syndrome
  • Fetal Aneuploidy Screen
  • Miller-Dieker syndrome
  • Prader-Willi syndrome
  • Smith-Magenis syndrome
  • SRY
  • STS/Kallman syndrome
  • Williams syndrome
  • Wolf-Hirschhorn syndrome

Oncology Studies

  • ALL (B-cell): +4, +6, t(9;22), +10, t(14;18),+17, +21
  • ALL (T-cell): ALK, +4, +6, t(9;22), +10, TRA/D, t(14;18), +17, +21
  • AML #1: 5q-, 7q-, +8, MLL, 13q-, 20qr
  • CLL: 11q-, t(11;14), +12, 13q-, 17pr
  • Lymphoma (B-cell): 6q-, MYC, t(11;14), t(14;18)
  • Lymphoma (T-cell): ALK, 6q-, MYC, t(11;14),TRA/D, t(14;18)
  • MDS: 5q-, 7q-, +8, 13q-, 20qr
  • Multiple Myeloma (CD138 enrichment): t(4;14),+5, +7, MYC, t(11;14), 13q- / -13, t(14;16), 17pr
  • Rhabdomyosarcoma: PAX3, PAX7, FOX01
  • XX/XY donor mismatch
  • ALK: 2p23
  • PAX3: 2q35
  • BCL6: 3q27
  • FIP1L1/CHIC2/PDGFRA: del4q12
  • FGFR3/IGH: t(4;14)
  • EGR1: 5q31
  • PDGFRB: 5q32
  • MYB: 6q23
  • D7S486: 7q31
  • D8Z1: +8
  • RUNX1T1/RUNX1: t(8;21)
  • MYC: 8q24
  • BCR/ABL1: t(9;22)
  • KMT2A (MLL): 11q23
  • CCND1/IGH: t(11;14)
  • ATM: 11q22
  • BIRC3/MALT1: t(11;18)
  • ETV6/RUNX1:t(12;21)
  • DDIT3:12q13
  • D13S319; del13q14
  • FOXO1: 13q14
  • RB1: 13q14
  • TRA/D: 14q11
  • IGH: 14q32
  • IGH/MAF: t(14;16)
  • IGH/BCL2: t(14;18)
  • CBFB: inv16
  • p53: 17p13
  • HER-2/neu: 17q11.2-q12
  • RARA: 17q21
  • MALT1: 18q21
  • E2A: 19p13
  • D20S108: 20q12
  • D21S259: del21q22
  • EWSR1: 22q12
  • IGL: 22q11

Directors, Staffing and Licensing

The laboratory is under the direction of Marie Dell'Aquila, PhD, ABMG Certified Clinical Cytogeneticist.

It is staffed by licensed Clinical Laboratory Scientists specializing in cytogenetics. 

The laboratory is licensed by the State of California Department of Public Health and accredited by the College of American Pathologists.

CLIA #05D0913715
CAP #2320302

Mailing address:
Center for Advanced Laboratory Medicine
10300 Campus Pointe Dr., MC 7181
San Diego, CA 92121-1504

Contact Us

Phone: 858-657-5784
Fax: 858-657-5834

10300 Campus Pointe Drive, Suite 150
Hours: 8 a.m. to 6 p.m., Monday through Friday



How to submit specimens