Institute of Genomic Medicine
Sample Requirements
Cytogenetics 973-972-5937 Biochemical Genetics 973-972-3738 Molecular Genetics 973-972-3170 |
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MOLECULAR GENETICS |
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Molecular Genetics 973-972-3170 |
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√ |
Test Name |
Specimen |
Tube type |
Shipping |
Test Code |
Notes |
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Angelman Syndrome - methylation PCR |
(P) |
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RT |
ANG |
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Ashkenazi Jewish Panel – DNA sequencing of 17 genes |
(P) |
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RT |
AJPSEQ |
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Comparative Genomic Hybridization (CGH):Mental Retardation/ Developmental Delay |
(P) |
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RT |
CGH105K |
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Comparative Genomic Hybridization (CGH): Products of Conception (POC) |
(P) |
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RT |
CGH105K |
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Comparative Genomic Hybridization (CGH): Solid tumor and hematological cancers |
(P) |
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RT |
CGH105K |
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Cystic Fibrosis DNA sequencing |
(P) |
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RT |
CF2000 |
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DNA BANKING |
(P) |
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RT |
DBNK |
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Fragile X Molecular Test |
(P) |
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RT |
FXMO |
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Hereditary Hemochromatosis |
(P) |
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RT |
HCR |
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Mitochondrial DNA Sequencing |
(P) |
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RT |
MITO |
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MTHFR- Methylene TetrahydroFolate Reductase |
(P) |
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RT |
MTHFR2 |
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Prader Willi Analysis - methylation PCR |
(P) |
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RT |
PWS |
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RhD Genotyping |
(P) |
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RT |
RHD-2 |
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Spinal Muscular Atrophy (copy number SMN1, SMN2 genes) |
(P) |
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RT |
SMA |
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Sickle Cell Disease |
(P) |
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RT |
SC |
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BIOCHEMICAL GENETICS |
Biochemical Genetics 973-972-3738
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√ |
Test Name |
Specimen |
Tube type |
Shipping |
Test Code |
Notes |
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Urine Amino Acids (Qualitative) |
(U) |
10-20 ml random urine in clean container |
ICE |
AASUQ |
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Amino Acid Quantitation |
(G) |
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ICE |
AAQ6 |
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Biotinidase |
(R) |
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ICE |
BIOT |
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Carnitine |
(R) |
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ICE |
CAR |
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Galactokinase (Whole Blood) |
(G) |
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ICE |
GALK |
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Gal-1-P (RBC) |
(G) |
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ICE |
GAL RBC |
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Gal-1-P Uridyl Transferase Quantitation |
(G) |
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ICE |
GALT Q |
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Gal-1-P Uridyl Transferase Electrophoresis |
(G) |
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ICE |
GALT E |
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Mucopolysaccharides (MPS) Quantitation |
(U) |
15 mL random urine |
ICE |
MSQN |
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MPS - TLC Differential |
(U) |
20 ml random urine |
ICE |
MPSU |
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Organic Acids (Qualitative) |
(U) |
10mL random urine |
ICE |
GCMSU |
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MethylMalonate Quantitation |
(G) / (U) |
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ICE |
OAQUAN |
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Orotic Acid Quantitation |
(U) |
10mL random urine |
ICE |
OAQUAN |
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CYTOGENETICS: Chromosome Analysis 973-972-5937 |
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√ |
Test Name |
Specimen |
Tube type |
Shipping |
Test Code |
Notes |
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Prenatal
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Chromosome Analysis-Karyotype |
Amniotic Fluid |
15-25mL in sterile conical centrifuge tube |
RT |
CIS |
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Chromosome Analysis-Karyotype |
Chorionic villi |
10-30mg of villi in culture medium |
RT |
CVS |
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CGH: Comparative Genomic Hybridization |
Amniotic Fluid(Contact) |
contact lab for instruction |
RT |
CGH 105K |
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Alpha feto protein |
Amniotic Fluid |
contact lab for instruction |
RT |
AAFP |
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AcetylCholinesterase |
Amniotic Fluid |
contact lab for instruction |
RT |
ACHE |
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CMV:Cytomegalovirus |
Amniotic Fluid |
contact lab for instruction |
RT |
CMV AMNIO |
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Toxoplasmosis Gondii by PCR |
Amniotic Fluid |
contact lab for instruction |
RT |
TOXO P |
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Fetal Hemoglobulin |
Amniotic Fluid |
contact lab for instruction |
RT |
HGB F |
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Cystic Fibrosis (Amniotic Fluid) |
(Contact) |
contact lab for instruction |
RT |
CF2000 |
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Blood(Non-Neoplastic) |
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Chromosome Analysis-Karyotype |
Peripheral Blood 1-2mls |
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RT |
CBR |
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Chromosome Analysis screening |
Peripheral Blood 1-2mls |
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RT |
CBR/S |
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Solid tissue(Non-Neoplastic) |
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Chromosome Analysis-Karyotype |
Product of Conception |
1-2mm of tissue in culture medium or in sterile gauze moistened with water (do not submerge in liquid) contact lab for transport media |
RT |
CPOC |
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Solid Tissue Biopsy |
Skin Biopsy |
1-2mm of tissue in culture medium or in sterile gauze moistened with water (do not submerge in liquid) contact lab for transport media |
RT |
CST |
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Tissue Culture Only-no karyotypes |
Tissue |
1-2mm of tissue in culture medium or in sterile gauze moistened with water (do not submerge in liquid) contact lab for transport media |
RT |
TC |
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Freeze |
(Contact) |
contact lab for instruction |
RT |
FREZ |
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Thaw frozen sample |
(Contact) |
contact lab for instruction |
RT |
THAW |
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CGH-POC: Comparative Genomic Hybridization |
Product of Conception |
1-2mm of tissue in culture medium or in sterile gauze moistened with water (do not submerge in liquid) contact lab for transport media |
RT |
CGH 105K |
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NEOPLASTIC STUDIES- Green Top (Sodium Heparin) |
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Chromosome Analysis-Karyotype-Bone Marrow |
Bone Marrow |
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RT |
CBM |
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Chromosome Analysis-Karyotype-Peripheral Blood |
Peripheral Blood |
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RT |
CUB |
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Chromosome Analysis-Karyotype-Unstimulated Blood or Bone Marrow with TPA or IL-4 Stimulated |
Unstimulated Blood or Bone Marrow with TPA or IL-4 Stimulated |
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RT |
CMU |
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Chromosome Analysis-Karyotype-Lymph Node |
Lymph node |
tissue in culture media contact lab for transport media |
RT |
CLN |
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Tumor Studies |
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Chromosome Analysis-Karyotype-Tumor |
Tumor |
tissue in culture media contact lab for transport media |
RT |
CTU |
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Microdeletion probe |
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1p36 (LSIp58) |
Peripheral Blood 1-2mls |
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RT |
F/DEL |
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Wolf Hirschhorn (WHS), 4p16.1 |
Peripheral Blood 1-2mls |
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RT |
F/DEL |
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Cri-du-Chat (CDC), 5p15.2 |
Peripheral Blood 1-2mls |
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RT |
F/DEL |
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Williams (ELN), 7q11.23 |
(G)Peripheral Blood 1-2mls |
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RT |
F/DEL |
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Angelman (D15S10), 15q11-q13 |
(G)Peripheral Blood 1-2mls |
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RT |
F/DEL |
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Prader-Willi (SNRPN), 15q11-q13 |
(G)Peripheral Blood 1-2mls |
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RT |
F/DEL |
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Smith Magenis (SMS), 17p11.2 |
( G)Peripheral Blood 1-2mls |
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RT |
F/DEL |
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Miller Dieker (L1S1), 17p13.3 |
Peripheral Blood 1-2mls |
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RT |
F/DEL |
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DiGeorge (Hira), 22q11.2 |
Peripheral Blood 1-2mls |
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RT |
F/DEL |
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STS (Steroid Sulfatase), Xp22.3 |
Peripheral Blood 1-2mls |
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RT |
F/DEL |
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Kallman (KAL), Xp22.3 |
Peripheral Blood 1-2mls |
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RT |
F/DEL |
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X/SRY, Xcen(DXZ1)/Yp11.3(SRY) |
Peripheral Blood 1-2mls |
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RT |
F/DEL |
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Prenatal and Neonatal probe |
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Anuevysion Kit(X/Y/13/18/21) |
(Contact) |
contact lab for instruction |
RT |
FISH5 |
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sex determination, CEPX/CEPY, Xcen(DXZ1)/Ycen(DYZ3) |
(Contact) |
contact lab for instruction |
RT |
F/INT2 |
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Trisomy 13, 13q14(RB1) |
(Contact) |
contact lab for instruction |
RT |
F/INT |
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Trisomy 18, 18cen(D18Z1) |
(Contact) |
contact lab for instruction |
RT |
F/INT |
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Trisomy 21, 21q22.2(LSI 21) |
(Contact) |
contact lab for instruction |
RT |
F/INT |
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Two- Trisomy Detection |
(Contact) |
contact lab for instruction |
RT |
F/INT2 |
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Three- Trisomy Detection |
(Contact) |
contact lab for instruction |
RT |
F/INT3 |
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Cancer probe, Most commonly associated
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Test code |
diseases |
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HEMATOLOGIC DISORDERS |
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CyclinD1, 11q13 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
head,neck&breast ca |
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TP53, 17p13.1 |
(Contact) |
contact lab for instruction |
RT |
F/CINT |
LeFraumeni syndrome |
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EGR1, 5q deletion, 5q31 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
MDS, sAML |
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EGFR, 7p deletion, 7p12 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
MDS, sAML |
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D7S486, 7q deletion, 7q31 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
MDS, CML, sAML |
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CEP 8, trisomy 8, 8cen (D8Z1) |
(Contact) |
contact lab for instruction |
RT |
F/CINT |
MDS, AML |
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PTPRT/MYLB2 20q deletion/inversion |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
MDS, AML |
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CBFB break apart, 16q22 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
AML |
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RUNX1T1/RUNX1 (ETO/AML), t(8;21), 8q22 (RUNX1T1)/21q22 (RUNX1) |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
AML(M2) |
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RARA break apart FOR T(15;17), 17q21 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
AML(M3) |
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KMT2A (MLL) break apart, 11q23 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
ALL,AML(M5) |
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ETV6/RUNX1 (TEL/AML1), t(12;21), 12p13(ETV6)/21q22(RUNX1)/ |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
ALL |
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Double Trisomy CEP 4, 10 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
ALL |
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ABL1/BCR DF, t(9;22), 9q34(ABL1)/22q11.2(BCR) |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
CML |
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MYCN 2p23-24 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
neuroblastoma |
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4q12 (FIPL1/PDGFRA) rearrangement |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
CEL |
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CEP X/CEP Y |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
BM Transplantation |
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SOLID TUMORS |
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SS18 (SYT) break apart, 18q11.2 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
Synovial Sarcoma |
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EWSR1 break apart, 22q12 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
Ewing's Sarcoma |
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DDIT3 (CHOP) break apart, 12q13 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
Liposarcoma |
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FOXO1(FKHR) break apart, 13q14 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
Rhabdomyosarcoma |
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ALK break apart, 2p23 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
Inf. Myofibroblastic |
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MDM2 12q14.3-q15 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
Sarcomas |
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FUS BA, 16p11 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
LGFMS & MLS |
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TFE3 BA, Xp11 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
Renal Cell Carcinoma |
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IgH/BCL2 DF, t(14;18), 14q32.3(IgH)/18q22(BCL2)/ |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
Follicular Lymphoma |
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BCL2 break apart, 18q21 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
B-cell lymphoma |
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BCL6 break apart, 3q27 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
Diffuse/follicular lymphoma |
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IgH/CCND1 DF, t(11;14), 11q13(CCND1)/14q32.2(IgH) |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
Mantle Cell Lymphoma |
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MYC break apart, 8q24 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
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BIRC3/MALT1 (AP12/MALT1) DF, t(11;14) |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
Lymphoma |
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IgH break apart, 14q32.3 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
Lymphoma |
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MALT1 break apart, 18q21 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
Lymphoma |
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1q21 gain/8p21 deletion |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
MM/PCM/MGUS |
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RB1, 13q deletion, 13q14 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
CLL, MM |
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D13S319, 13q deletion, 13q14.3 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
CLL, MM |
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LSI 13q34 deletion |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
CLL, MM/PCM/MGUS |
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MYB/CEP6 6q22-23 deletion |
(Contact) |
contact lab for instruction |
RT |
F/CINT |
CLL |
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ATM, 11q22 |
(Contact) |
contact lab for instruction |
RT |
F/CINT |
CLL |
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CEP 12, trisomy 12, 12cen (D12Z3) |
(Contact) |
contact lab for instruction |
RT |
F/CINT |
CLL |
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CLL Panel D13S319(13q14.3),LSI 13q34 ,CEP 12 |
(Contact) |
contact lab for instruction |
RT |
F/CINT3 |
CLL |
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CLL Panel ATM (11q22.3), TP53 (17p13.1) |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
CLL |
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Multiple Myeloma Panel(5,9,15) |
(Contact) |
contact lab for instruction |
RT |
F/CINT3 |
Multiple Myeloma |
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IgH/MAF DF, t(14;16) |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
Multiple Myeloma |
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Igh/FGFR3 DF, t(4;14) |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
Multiple Myeloma |
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CDKN2A, 9p deletion, 9p21 |
(Contact) |
contact lab for instruction |
RT |
F/CINT |
ALL |
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ERBB2 (Her2/neu), PathVysion, 17q11.2 |
(Contact) |
contact lab for instruction |
RT |
F/CINT2 |
Breast Cancer |
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Sodium Heparin 
| Specimen Key: | |
| (U) - urine, minimum 4mL (no additives) | |
| (G) - blood in Green Top Tube | |
| (Sodium Heparin) | |
| (R) - blood in Red Top Tube (no anticoagulant) | |
| (P) - blood in Purple Top Tube (EDTA) | |
| SHIPPING Key: | |
| ICE | |
| RT - Room Temperature |
