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Cytogenetics/FISH

Section Director: Athena Milatovich Cherry, Ph.D.
Operations Director: Cynthia Samson, MA, MT(ASCP) SH, CL

General Information
The Stanford Cytogenetics Laboratory is a full-service cytogenetics laboratory. Standard chromosomal (or cytogenetic) analyses are performed on all tissue types, including:

  • Amniotic fluid, chorionic villi sampling (CVS) and percutaneous umbilical blood sampling (PUBS) for prenatal diagnosis;
  • Bone marrow aspirates on patients with leukemia, lymphoma and other hematological disorders;
  • Peripheral blood samples in couples with multiple miscarriages;
  • Peripheral blood samples of children with multiple congenital anomalies and mental retardation;
  • Tumor samples of solid neoplasms and tissue (products of conception, fetal skin samples, etc.);
  • Fluorescence in situ hybridization (FISH) for:
    • Microdeletion syndromes
    • Identification of marker chromosomes
    • Leukemia/lymphoma-specific rearrangements
    • HER2 amplification in breast cancer
    • Screening for recurrent bladder cancer (UroVysion)
    • Subtelomeric repeat studies for cryptic translocations

TO SEND A SPECIMEN FOR CONSULTATION

TESTS: Select a test to view Test Description & Clinical IndicationsTEST CODES:
Select a Test Code to view Test Specimen Collection Instructions
12P COPY NUMBERFISH 12Pcn
13Q, FISHCGFi 13Q
1P/19Q DELETIONS IN OLIGODENDROGLIOMAFISH GLIOMA
4P- SYNDROME (WOLF-HIRSCHHORN SYNDROME), 4P16.3CGF MCDEL
5P- SYNDROME (CRI DU CHAT SYNDROME), 5P15.2CGF MCDEL
5Q, FISHCGFi 5Q
7Q, FISHCGFi 7Q
ALK GENE REARRANGEMENT FISH ALK
ALK, FISHCGFi ALK
ANGELMAN SYNDROME (AS), 15Q11.2 (D15S10 DELETION)CGF ANGLM
ARRAY COMPARATIVE GENOMIC HYBRIDIZATION (ACGH)CGH GEN
BCL2 GENE REARRANGEMENT (CG FISH)CGFi BCL2
BCL2 GENE REARRANGEMENT IN FOLLICULAR LYMPHOMA (FISH BCL2 ) FISH BCL2
BCL6, FISHCGFi BCL6
BCR/ABL GENE FUSION IN CML AND ALL, T(9;22)(Q34;Q11.2)CGFi BCR
BRAF GENE REARRANGEMENTFISH BRAF
CCND1 GENE REARRANGEMENT (FFPE)FISH CCND1
CCND1/IGH GENE FUSION IN MANTLE CELL LYMPHOMA, T(11;14)(Q13;Q32)CGFi MCL
CENTROMERE PROBES (CROSS SEX TRANSPLANT; ANAUPLOIDY)CGFi ENUM
CHROM. #1 COPY NUMBERCGFi 1Q1P
CHROMOSOME SPECIFIC SUBTELOMERIC PROBESCGF MAR
CLL PANEL (+12, 11Q AND 13Q DELETION, 17P DELETION) [PERIPHERAL BLOOD PREFERRED]CGFi CLL
CRLF2, FISHCGFi CRLF2
CYTOGENETIC STUDY - AMNIOTIC FLUIDCG AMNIO
CYTOGENETIC STUDY, BLOOD (CANCER DX.) CG BLD NEO
CYTOGENETIC STUDY, BLOOD, HIGH RESOLUTIONCG HI RES
CYTOGENETIC STUDY, BLOOD, ROUTINE / PERCUTANEOUS UMBILICAL BLOOD SAMPLING (PUBS)CG BLOOD
CYTOGENETIC STUDY, BONE MARROWCG BONE MRW
CYTOGENETIC STUDY, CHORIONIC VILLICG CVS
CYTOGENETIC STUDY, CHROMOSOME BREAKAGE FOR ATAXIA TELANGIECTASIACG ATAXIA
CYTOGENETIC STUDY, CHROMOSOME BREAKAGE FOR FANCONI ANEMIACG FANCONI
CYTOGENETIC STUDY, TISSUE, POCCG TISS POC
CYTOGENETIC STUDY, TISSUE, SKIN/OTHERCG TISS SKIN
CYTOGENETIC STUDY, TUMORCG TUMOR
DIGEORGE SEQUENCE/VELOCARDIOFACIAL SYNDROME (VCF), 22Q11.2 (TUPLE1 DELETION) AND DISTAL 22Q13.3 DELETION (ARSA)CGF VCF
EGFR GENE AMPLIFICATIONFISH EGFR
ETV6 GENE REARRANGEMENTFISH ETV6
ETV6, FISHCGFi ETV6
ETV6/RUNX1, FISHCGFi TEL
EWSR1 GENE REARRANGEMENTFISH EWSR1
FGFR1 GENE REARRANGEMENTCGFi FGFR1
FISH CHIC 2; DELETION (OR FIP1L1/PDGFRA FUSION) IN HES AND SMCDCGFi CHIC2
FLUORESCENCE IN SITU HYBRIDIZATION (FISH) TESTING, PRENATAL PANELCGF PRENAT
FOXO1 GENE REARRANGEMENT IN ALVEOLAR RHABDOMYOSARCOMAFISH FOXO1
FOXO1, FISHCGFi FOXO1
FUS GENE REARRANGEMENTFISH FUS
HER2 AMPLIFICATION BY FISHFISH HER2
HER2 GENE AMPLIFICATION, NON-BREASTFISH HER2nb
IGH GENE REARRANGEMENTCGFi IGH
IGH/BCL2, FISHCGFi FCL
IGH/FGFR3, FISHCGFi t(4;14)
IGH/MAF, FISHCGFi t(14;16)
INV(16) FISHCGFi inv(16)
KRAS GENE AMPLIFICATIONFISH KRAS
MAML2 GENE REARRANGEMENTFISH MAML2
MAR/DEL 1-3, FISHCGF MAR
MDM2 GENE AMPLIFICATIONFISH MDM2
MDS PANEL, FISHCGFi MDSpan
MET GENE AMPLIFICATIONFISH METamp
MILLER-DIEKER SYNDROME (MDS), 17P13.3 (LIS1 DELETION)CGF MDK
MLL GENE REARRANGEMENT, 11Q23, IN AML AND ALLCGFi MLL
MYB GENE REARRANGEMENTFISH MYB
MYC GENE REARRANGEMENT IN BURKITT, OTHER LYMPHOMAFISH MYC
MYC, FISHCGFi cMYC
MYELOMA PANEL, FISHCGFi MMpan
P53, FISHCGFi P53
PDGFRB GENE REARRANGEMENTCGFi PDGRFB
PLAG1 GENE REARRANGEMENTFISH PLAG1
PML/RARA GENE FUSION IN APL, T(15;17)(Q22;Q21)CGFi APL
PRADER-WILLI SYNDROME (PWS), 15Q11.2 (SNRPN DELETION)CGF PWS
PRENATAL FISH FOR TRISOMIES 13, 18 AND 21, X AND Y CHROMOSOMES (5-10 ML DIRECT AMNIOTIC FLUID)CGF PRENAT
PRKACA GENE REARRANGEMENTFISH PRKACA
ROS1 GENE REARRANGEMENTFISH ROS1
SMITH-MAGENIS SYNDROME (SMS), 17P11.2 (FL1 DELETION)CGF SMS
SS18 (SYT) GENE REARRANGEMENTFISH SS18
SUBTELOMERIC FISH STUDIES FOR CRYPTIC REARRANGEMENTSCGF SUBTL
T(8;21), FISHCGFi t(8;21)
TFE3 GENE REARRANGEMENTFISH TFE3
TRISOMY 8CGFi ENUM
UROVYSION FLUORESCENCE IN SITU HYBRIDIZATION (FISH) SCREENING RECURRENT BLADDER CANCERCGFi UROV
WHOLE CHROMOSOME PAINTS (TO IDENTIFY UNKNOWN REARRANGEMENTS/MARKERS)CGF WCPan
WILLIAMS SYNDROME (WS), 7Q11.23 (WSCR DELETION)CGF WMS
X-LINKED ICHTHYOSIS, XP22.3 (STEROID SULFATASE DELETION)CGF MCDEL

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Hours
Specimens are accepted 24 hours a day, seven days a week, except as noted in test specimen requirements.

Consultation Services
We provide a full range of cytogenetic diagnostic and consulting services for adult, pediatric, and prenatal samples. For consultation services please call Customer Services AT 1-877-717-3733 and request the Cytogenetics Laboratory.

 
 


 
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