Human Genetics Tests

List of Human Genetic Tests

Disease/UseTrade NameManufacturerSubmission
Acute Myeloid LeukemiaVysis D7S486/CEP 7 FISH Probe KitAbbott Molecular Inc.K131508
Vysis EGR1 FISH Probe KitAbbott Molecular Inc.K123951,K091960
LeukoStrat CDx FLT3 Mutation AssayINVIVOSCRIBE TECHNOLOGIES, INCP160040
Abbott RealTime IDH2ABBOTT MOLECULAR, INC.P170005
Abbott RealTime IDH1ABBOTT MOLECULAR, INC.P170041
Acute Myeloid Leukemia or Myelodysplastic SyndromeVYSIS EGR1 FISH PROBE KIT – SC (SPECIMEN CHARACTERIZATIONABBOTT MOLECULAR, INC.DEN130010
Aggressive Systemic MastocytosiKIT D816V ASSAYARUP LABARATORIESH140006
Autosomal Recessive Carrier Screening23ANDME PERSONAL GENOME SERVICE23andMeDEN140044
B-cell chronic lymphocytic leukemiaVYSIS CLL FISH PROBE KITABBOTT MOLECULAR, INCK100015
VYSIS CLL FISH PROBE KITABBOTT MOLECULAR, INCP150041
CEP 12 SpectrumOrange Direct Labeled Chromosome Enumeration DNA ProbeVysisK962873
Bladder CancerVysis UroVysion Bladder Cancer Recurrence KitVysisK033982K013785K011031
Breast Cancer23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants)23andMeDEN170046
Prosigna Breast Cancer Prognostic Gene Signature AssayNanostring TechnologiesK130010
MammaPrintAgendia BVK101454K081092K080252K070675K062694
INFORM HER2 Dual ISH DNA Probe CocktailVentana Medical Systems, Inc.P100027
HER2 CISH pharmDxTM KitDako Denmark A/SP100024
GeneSearch Breast Lymph Node (BLN) Test KitVeridex, LLC.P060017 S001-S004
Dako TOP2A FISH PharmDx KitDako Denmark A/SP050045 S001-S004
HER2 IQFISH PHARMDXDAKO DENMARK A/SP040005
INSITE HER-2/NEU KITBIOGENEX LABORATORIES, INC.P040030
SPOT-LIGHT HER2 CISH KITINVITROGEN CORPORATIONP050040
INFORM HER-2/NEUVENTANA MEDICAL SYSTEMS, INC.P940004
DAKO HERCEPTESTDAKO A/SP980018
PATH VYSION HER-2 DNA PROBE KITABBOTT MOLECULAR, INC.P980024
DakoCytomation Her2 FISH pharmDx™ KitDakoCytomation Denmark A/SP040005
Therascreen PIK3CA RGQ PCR KitQIAGEN GMBHP190001
Therascreen PIK3CA RGQ PCR KitQIAGEN GMBHP190004
Chromosome abnormalitiesAffymetrix CytoScan Dx AssayAffymetrix, Inc.K130313
AneuVysionVysisK010288K972200
CYTOSCAN(R) DXAffymetrix, Inc.DEN130018
GenetiSure Dx Postnatal AssayAgilent Technologies, Inc.K163367
CEP 8 Spectrumorange DNA Probe KitVysisK953591
CEP X SpectrumOrange/ Y SpectrumGreen DNA Probe KitVysisK954214
Chronic Myeloid LeukemiaQuantidex qPCR BCR-ABL IS KitASURAGEN, INC.DEN160003
Xpert BCR-ABL Ultra, GeneXpert Dx System, GeneXpert Infinity-48s And GeneXpert Infinity-80 SystemsCepheidK190076
QXDx BCR-ABL %IS Kit For Use On The QXDx AutoDG DdPCR SystemBio-Rad Laboratories, Inc.K181661
MRDx BCR-ABL Test, MRDx BCR-ABL Test SoftwareMolecularMD CorporationK173492
Coagulation FactorsInvader Factor VHologic, Inc.K100980
Invader Factor IIHologic, Inc.K100943
Illumina VeraCode Genotyping Test for Factor V and Factor IIIllumina, Inc.K093129
eSensor Thrombophilia Risk Test, eSensor FII-FV Genotyping Test, eSensor Fll Genotyping Test, eSensor FV Genotyping Test, eSensor MTHFR Genotyping TestOsmetech Molecular DiagnosticsK093974
Xpert HemosIL FII & FVCepheidK082118
Verigene F5 Nucleic Acid Test
Verigene F2 Nucleic Acid Test
Verigene MTHFR Nucleic Acid Test
Nanosphere, Inc.K070597
INFINITI SystemAutogenomics, Inc.K060564
Factor II (Prothrombin) G20210A KitRoche Diagnostics CorporationK033612
Factor V leiden KitRoche Diagnostics CorporationK033607
Invader MTHFR 677Hologic, Inc.K100987
Invader MTHFR 1298Hologic, Inc.K100496
COAGULATION, LATE-ONSET ALHEIMER’S DISEASE, PARKINSON’S DISEASE, CELIAC DISEASE, ALPHA-1 ANTITRYPSIN DEFICIENCY, EARLY-ONSET PRIMARY DYSTONIA, FACTOR IX DEFICIENCY, GAUCHER DISEASE TYPE 1, GLUCOSE-6-PHOPHATE DEHYDROGENASE DEFICIENCY, HERDITARY HEMOCHROMATOSIS, HEREDITARY THROMBOPHILIAPERSONAL GENOME SERVICE (PGS) GENETIC HEALTH RISK TEST FOR HEREDITARY THROMBOPHILIA23andMEDEN160026
Colorectal CancerCologuardExact Sciences CorporationP130017
Therascreen KRAS RGQ PCR KitQIAGEN MANCHESTER LTDP110027/P110030
Epi ProColon®Epigenomics AGP130001
Cobas KRAS MUTATION TESTRoche Molecular Systems, Inc.P140023
Praxis Extended RAS PanelIllumina, Inc.P160038
VENTANA ANTI-MLH-1(M1) MOUSE MONOCLONAL PRIMARY ANTIBODY, VENTANA ANTI-PMS2 (A16-4) MOUSE MONOCLONAL PRIMARY ANTIBODY, VENTANA ANTI-MSH2 (G219-1129) MOUSE MONOCLONAL PRIMARY ANTIBODY, VENTANA ANTI-MSH6 (SP 93) MOUSE MONOCLONAL PRIMARY ANTIBODY, VENTANA ANTI-BRAF V600E (VE1) MOUSE MONOCLONAL PRIMARY ANTIBODYVentana Medical SystemsDEN170030
Colorectal Cancer PredispositionMUTYH-Associated Polyposis (MAP)23andMeK182784
Cystic FibrosisIllumina MiSeqDx Cystic Fibrosis Clinical Sequencing AssayIllumina, IncK132750
Illumina MiSeqDx Cystic Fibrosis 139-Variant AssayIllumina, IncK124006
xTAG Cystic Fibrosis 60 Kit v2, xTAG Data Analysis Software (TDAS) CFTRLuminex Molecular Diagnostics, Inc.K163336
xTAG Cystic Fibrosis 39 Kit v2Luminex Molecular Diagnostics, Inc.K163347
eSensor CF Genotyping TestOsmetech Molecular DiagnosticsK090901
xTAG Cystic Fibrosis 60 Kit v2Luminex Molecular Diagnostics Inc.K083845
xTAG Cystic Fibrosis 39 Kit v2Luminex Molecular Diagnostics Inc.K083846
Verigene CFTR and Verigene CFTR PolyT Nucleic Acid TestsNanosphere, IncK083294
InPlex CF Molecular TestThird Wave Technology, Inc.K063787
Cystic Fibrosis Genotyping AssayCelera DiagnosticsK062028
Tag-It Cystic Fibrosis KitTm Bioscience CorporationK060627K043011
eSensor Cystic Fibrosis Carrier Detection SystemClinical Micro Sensors, Inc.K060543K051435
Drug Metabolizing enzymesxTAG CYP2D6 Kit v3Luminex Molecular Diagnostics, Inc.K130189K093420
xTAG CYP2D6 Kit v3Luminex Molecular Diagnostics, Inc.K130189K131565
Spartan RX CYP2C19 Test SystemAkonni Biosystems Inc.K183530
TruDiagnosis SystemAkonni Biosystems IncK183530
Verigene CYP2C 19 Nucleic Acid TestNanosphere, Inc.K120466
INFINITI CYP2C19 AssayAutoGenomics, Inc.K101683
Invader UGT1A1 Molecular AssayThird Wave Technologies Inc.K051824
Roche AmpliChip CYP450 microarrayRoche Molecular Systems, Inc.K043576K042259
eSensor Warfarin Sensitivity Saliva TestGenMark DiagnosticsK110786
eQ-PCR LC Warfarin Genotyping kitTrimGen CorporationK073071
eSensor Warfarin Sensitivity Test and XT-8 InstrumentOsmetech Molecular DiagnosticsK073720
Gentris Rapid Genotyping Assay – CYP2C9 & VKORCIParagonDx, LLCK071867
INFINITI 2C9 & VKORC1 Assay for WarfarinAutoGenomics, Inc.K073014
Verigene Warfarin Metabolism Nucleic Acid Test and Verigene SystemNanosphere, Inc.K070804
Heart TransplantAlloMap Molecular Expression TestingxDxK073482
Hematologic MalignanciesMLL (KMT2A) BREAKAPART FISH PROBE KIT; AML1 (RUNX1) BREAKAPART FISH PROBE KIT, P53 (TP53) DELETION FISH PROBE KIT; EVI1 (MECOM) BREAKAPART FISH PROBE KIT, DEL(20Q) DELETION FISH PROBE KIT; AML1/ETO (RUNX1/RUNXIT1)) TRANSLOCATION, DUAL FUSI, CBFB (CBFB) /MYH11 TRANSLOCATION, DUAL FUSION FISH PROBE KIT,DEL(5Q)DELETION FISH PROBE KIT; DEL(7Q)DELETION FISH PROBE KITCYTOCELL LTDDEN170070
HEREDITARY THROMBOPHILIAIMPACT DX FACTOR V LEIDEN AND FACTOR II GENOTYPING TESTSEQUENOM, INC./AGENA BioscienceK132978
MelanomaRoche cobas DNA Sample Preparation Kit, COBAS 4800 BRAF V600 MUTATION TESTRoche Molecular Systems, Inc.P110020
THXID-BRAF KITBioMerieux, Inc.P120014
Multiple Myeloma / Acute Lymphoblastic Leukemia (MRD)ADAPTIVE BIOTECHNOLOGIES CLONOSEQ ASSAYADAPTIVE BIOTECHNOLOGIES CORPORATIONDEN170080
Myelodysplastic syndrome / myeloproliferative diseaseFluorescence in situ hybridization, platelet-derived growth factor receptor, beta polypeptide (pdgfrb), rearrangementARUP LABARATORIESH140005
Myeloproliferative disease / Polycythemia VeraIpsogen JAK2 RGQ PCR KitQIAGEN INCDEN160028
Myeloproliferative disease / Polycythemia VeraIpsogen JAK2 RGQ PCR KitQIAGEN INCK172287
Non-Small Cell Lung CancerVYSIS ALK BREAK APART FISH PROBE KITABBOTT MOLECULAR, INC.P110012
Cobas EGFR MUTATION TEST v2Roche Molecular Systems, Inc.P120019
THERASCREEN EGFR RGQ PCR KITQIAGEN MANCHESTER LTDP120022
Cobas EGFR MUTATION TEST v2Roche Molecular Systems, Inc.P150044
Cobas EGFR MUTATION TEST v2Roche Molecular Systems, Inc.P150047
Oncomine Dx Target TestLIFE TECHNOLOGIES CORPORATIONP160045
Ovarian CancerBRACAnalysis CDxMyriad Genetic Laboratories, Inc.P140020
FoundationFocus CDxBRCAFOUNDATION MEDICINE, INCP160018
Pharmacogenetic Reports23ANDME PERSONAL GENOME SERVICE (PGS) PHARMACOGENETIC REPORTS23andMeDEN180028
Platforms, Imaging Systems, and ReagentsILLUMINA MISEQDX PLATFORMIllumina, IncDEN130011
MISEQDX UNIVERSAL KIT 1.0Illumina, Inc.DEN130042
DUET SYSTEMBIOVIEW LTD.K130775
Prostate CancerNADiA ProsVueIris Molecular DiagnosticsK101185
PROGENSA PCA3 AssayGen-Probe, Inc.P100033
Severe Combined Immunodeficiency Disorder (SCID)PerkinElmer Enlite TREC Test SystemWallac OYDEN140010
Tissue of OriginPathwork Tissue of Origin Test Kit – FFPEPathwork Diagnostics Inc.K120489K092967
Pathwork Tissue of Origin TestPathwork Diagnostics Inc.K080896
Tissue of Origin Test Kit – FFPECancer Genetics, Inc.K173839
Tumor ProfilingMSK-IMPACT (Integrated Mutation Profiling Of Actionable Cancer Targets):A Hybridization-Capture Based Next Generation Sequencing AssayMemorial Sloan-Kettering Cancer CenterDEN170058
FoundationOne CDxFoundation Medicine, Inc.P170019
Tumor ProfilingMyriad myChoice CDxMyriad Genetic Laboratories, Inc.P190014
Tumor ProfilingOmics CoreNantHealth, Inc..K190661
Urothelial CancerTherascreen FGFR RGQ RT-PCR KitQIAGEN GmbHP180043