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Cytogenetics

Director: Athena Milatovich Cherry, Ph.D.

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
TESTS: Select a test to view Test Description & Clinical IndicationsTEST CODES:
Select a Test Code to view Test Specimen Collection Instructions
-5/5Q- SEEN IN MDS, AML AND SECONDARY MDS AND AMLCGFi5Q
-7/7Q-CGFi 7Q
13Q DELETION IN MULTIPLE MYELOMACGFi 13Q
1P DELETION/19Q DELETION IN GLIOMAS [FRESH TUMOR TISSUE OR PARAFFIN-EMBEDDED TISSUE]FISH GLIOMA
4P- SYNDROME (WOLF-HIRSCHHORN SYNDROME), 4P16.3CGF MCDEL
5P- SYNDROME (CRI DU CHAT SYNDROME), 5P15.2CGF MCDEL
ANGELMAN SYNDROME (AS), 15Q11.2 (D15S10 DELETION)CGF ANGLM
ARRAY COMPARATIVE GENOMIC HYBRIDIZATION (ACGH)CGH GEN
BCR/ABL GENE FUSION IN CML AND ALL, T(9;22)(Q34;Q11.2)CGFi BCR
CBFB INVERSION/DELETION/TRANSLOCATION, INV(16)(P13Q22)/DEL(16Q)/T(16Q;?) IN AML-M4CGFi inv(16)
CCND1/IGH GENE FUSION IN MANTLE CELL LYMPHOMA, T(11;14)(Q13;Q32)CGFi MCL
CENTROMERE PROBES (CROSS SEX TRANSPLANT; ANAUPLOIDY)CGFi ENUM
CHROMOSOME SPECIFIC SUBTELOMERIC PROBESCGF MAR
CLL PANEL (+12, 11Q AND 13Q DELETION, 17P DELETION) [PERIPHERAL BLOOD PREFERRED]CGFi CLL
CMYC GENE REARRANGEMENT, 8Q24, T(8;14)(Q24;Q32), T(2;8), T(8;22)CGFi cMYC or FISH BURKITT
CYTOGENETIC STUDY - AMNIOTIC FLUIDCGAMNIO
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 VILLICGCVS
CYTOGENETIC STUDY, CHROMOSOME BREAKAGE FOR ATAXIA TELANGIECTASIACG ATAXIA
CYTOGENETIC STUDY, CHROMOSOME BREAKAGE FOR FANCONI ANEMIACG FANCONI
DIGEORGE SEQUENCE/VELOCARDIOFACIAL SYNDROME (VCF), 22Q11.2 (TUPLE1 DELETION) AND DISTAL 22Q13.3 DELETION (ARSA)CGF VCF
ETO/AML1 GENE FUSION, T(8;21)(Q22;Q22), IN AML-M2CGFi t(8;21)
EWS REARRANGEMENT, 22Q12 IN EWING'S SARCOMA, PNET, ETC.[FRESH TUMOR TISSUE OR PARAFFIN-EMBEDDED TISSUE]CGFi EWS or FISH EWS
FISH CHIC 2; DELETION (OR FIP1L1/PDGFRA FUSION) IN HES AND SMCDCGFi CHIC2
FLUORESCENCE IN SITU HYBRIDIZATION (FISH) TESTING, PRENATAL PANELCGF PRENAT
HER2 AMPLIFICATION BY FLUORESCENCE IN SITU HYBRIDIZATION (FISH) IN BREAST CANCERFISH HER2
HER2 AMPLIFICATION IN BREAST CANCER [*PARAFFIN-EMBEDDED TISSUE]FISH HER2
IGH/BCL2 GENE FUSION IN NHL, T(14;18)(Q32;Q21)CGFi FCL
LEUKEMIC BLOOD CHROMOSOMAL ANALYSISCG BLD NEO
MILLER-DIEKER SYNDROME (MDS), 17P13.3 (LIS1 DELETION)CGF MDK
MLL GENE REARRANGEMENT, 11Q23, IN AML AND ALLCGFi MLL
OTHER UNIQUE SEQUENCE PROBESCGF MAR
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
SMITH-MAGENIS SYNDROME (SMS), 17P11.2 (FL1 DELETION)CGF SMS
SOLID TUMOR CHROMOSOMAL ANALYSISCG TUMOR
SUBTELOMERIC FISH STUDIES FOR CRYPTIC REARRANGEMENTSCGF SUBTL
SYT REARRANGEMENT, 18Q11.2, IN SYNOVIAL SARCOMA, T(X;18) [*FRESH TUMOR TISSUE OR PARAFFIN-EMBEDDED TISSUE]CGFi SYT or FISH SYN SARC
TEL/AML1 GENE FUSION IN ALL, T(12;21)(P13;Q22)CGFi TEL
TISSUE CHROMOSOMAL ANALYSIS, POCCG TISS POC
TISSUE CHROMOSOMAL ANALYSIS, SKINCG TISS SKIN
TRISOMY 8CGFi ENUM
UROVYSION FLUORESCENCE IN SITU HYBRIDIZATION (FISH) SCREENING RECURRENT BLADDER CANCERCGFi UROV
UROVYSION SCREEN FOR RECURRENT BLADDER CANCER (ANEUPLOIDY OF CHROMOSOMES 3, 7 AND 17; DELETION OF 9P21) [VOIDED URINE]CGFi 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.

Contact Information
Dana Bangs
Supervisor
(650) 725-7476

 
 


 
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