Test Catalog

Tests by Classification Type

New York State clients are required by New York State regulations to have completed informed-consent forms on file. When ordering the following tests, all NYS clients are required to indicate to Mayo Clinic Laboratories that informed consent has been obtained:

Mayo Test ID Test Name
BPGMM2,3-Bisphosphoglycerate Mutase, Full Gene Sequencing Analysis
CYPZ21-Hydroxylase Gene (CYP21A2), Full Gene Analysis
DD22F22q11.2 Deletion/Duplication, FISH
MTHAC5,10-Methylenetetrahydrofolate Reductase A1298C, Mutation, Blood
MTHP5,10-Methylenetetrahydrofolate Reductase C677T and A1298C Mutations, Blood
MTHFR5,10-Methylenetetrahydrofolate Reductase C677T, Mutation, Blood
APPANAcute Porphyria, Multi-Gene Panel
AGXTZAGXT Gene, Full Gene Analysis
WASQRAlpha Globin Gene Sequencing, Blood
WASEQAlpha Globin Gene Sequencing, Blood
FUCWAlpha-Fucosidase, Leukocytes
AGABSAlpha-Galactosidase, Blood Spot
AGAAlpha-Galactosidase, Leukocytes
AGASAlpha-Galactosidase, Serum
ATHALAlpha-Globin Gene Analysis
IDSWBAlpha-L-Iduronidase, Blood
IDSBSAlpha-L-Iduronidase, Blood Spot
MANNAlpha-Mannosidase, Leukocytes
ANASAlpha-N-Acetylglucosaminidase, Serum
ALADWAminolevulinic Acid Dehydratase (ALA-D), Washed Erythrocytes
ALADAminolevulinic Acid Dehydratase (ALAD), Whole Blood
CULAFAmniotic Fluid Culture for Genetic Testing
APCZAPC Gene, Full Gene Analysis
APO1ZApolipoprotein A-I (APOA1) Gene, Full Gene Analysis
APO2ZApolipoprotein A-II (APOA2) Gene, Full Gene Analysis
APOEGApolipoprotein E Genotyping, Blood
ARVGPArrhythmogenic Cardiomyopathy Multi-Gene Panel, Blood
ARSAZARSA Gene, Full Gene Analysis
ARSUArylsulfatase A, 24 Hour, Urine
ARSAWArylsulfatase A, Leukocytes
ARSBArylsulfatase B, Fibroblasts
AJPOAshkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis (CF)
AUTOPAutoinflammatory Primary Immunodeficiency (PID) Gene Panel
ARPKZAutosomal Recessive Polycystic Kidney Disease (ARPKD), Full Gene Analysis, Varies
BCLGPB-Cell Deficiency Primary Immunodeficiency (PID) Gene Panel
BWRSBeckwith-Wiedemann Syndrome (BWS)/Russell-Silver Syndrome (RSS) Molecular Analysis
WBSEQBeta Globin Gene Sequencing, Blood
CTNNBBeta-Catenin (CTNNB1) Mutation Analysis, Tumor
BGAWBeta-Galactosidase, Blood
BGABSBeta-Galactosidase, Blood Spot
BGABeta-Galactosidase, Leukocytes
WBDDRBeta-Globin Cluster Locus Deletion/Duplication, Blood
WBDDBeta-Globin Cluster Locus, Deletion/Duplication, Varies
WBSQRBeta-Globin Gene Sequencing, Blood
BGLBeta-Glucosidase, Leukocytes
BTDZBiotinidase Deficiency, BTD Full Gene Analysis
BIOTSBiotinidase, Serum
FLCNZBirt-Hogg-Dube Syndrome, Full Gene Analysis
BMPRZBMPR1A Gene, Full Gene Analysis
BRAJ3BRCA1/BRCA2 Ashkenazi Jewish 3-Site Mutation Panel
BRCAZBRCA1/BRCA2 Genes, Full Gene Analysis
BRGGPBrugada Syndrome Multi-Gene Panel, Blood
BTKSBruton Tyrosine Kinase (BTK) Genotype, Full Gene Sequence, Blood
BTKKBruton Tyrosine Kinase (BTK) Genotype, Known Mutation, Blood
C9ORFC9orf72 Hexanucleotide Repeat, Molecular Analysis, Varies
CANPCanavan Disease, Mutation Analysis, ASPA
CARPBCarbamazepine Hypersensitivity Pharmacogenomics, Blood
CARPOCarbamazepine Hypersensitivity Pharmacogenomics, Saliva
CPT2ZCarnitine Palmitoyltransferase II Deficiency, Full Gene Analysis
CACTZCarnitine-Acylcarnitine Translocase Deficiency, Full Gene Analysis
CASRZCASR Gene, Full Gene Analysis
COMTVCatechol-O-Methyltransferase (COMT) Genotype, Varies
CDH1ZCDH1 Gene, Full Gene Analysis
CDKZCDKN1C Gene, Full Gene Analysis
NIPSTCell-Free DNA Prenatal Screen, Autosomal Trisomy and Sex Chromosome Aneuploidy, Blood
NIPSCell-Free DNA Prenatal Screen, Blood
CFTRZCFTR Gene, Full Gene Analysis, Varies
CHEKZCHEK2 Gene, Full Gene Analysis
CROMUChromium for Occupational Monitoring, Urine
CRUChromium, 24 Hour, Urine
CRChromium, Random, Urine
CMAPCChromosomal Microarray, Autopsy, Products of Conception, or Stillbirth
CMAMTChromosomal Microarray, Autopsy/Products of Conception/Stillbirth, Tissue
CMACBChromosomal Microarray, Congenital, Blood
CMAPChromosomal Microarray, Prenatal, Amniotic Fluid/Chorionic Villus Sampling
CHRAFChromosome Analysis, Amniotic Fluid
CHRCVChromosome Analysis, Chorionic Villus Sampling
CHRCBChromosome Analysis, Congenital Disorders, Blood
CHFXCChromosome Analysis, Congenital Disorders, Fixed Cells
BLOOMChromosome Analysis, Sister Chromatid Exchange (SCE) for Bloom Syndrome, Blood
CHRTIChromosome Analysis, Skin Biopsy
COUCobalt, 24 Hour, Urine
CORUCobalt, Random, Urine
COBCUCobalt/Creatinine Ratio, Random, Urine
MITOTCombined Mitochondrial Analysis, Mitochondrial Full Genome and Nuclear Gene Panel, Varies
AHUSPComplement-Mediated Atypical Hemolytic-Uremic Syndrome (aHUS)/Thrombotic Microangiopathy (TMA) Gene Panel
CCMGPComprehensive Cardiomyopathy Multi-Gene Panel, Blood
CDGPCongenital Disorders of Glycosylation Genetic Panels by Next-Generation Sequencing (NGS)
NGCDACongenital Dyserythropoietic Anemia Sequencing, Varies
SCNGPCongenital Neutropenia Primary Immunodeficiency (PID) Gene Panel
CPOXZCPOX Gene, Full Gene Analysis
CTRCZCTRC Gene, Full Gene Analysis, Varies
3A5VCYP3A5 Genotype, Varies
CFPCystic Fibrosis Mutation Analysis, 106-Mutation Panel, Varies
1A2VCytochrome P450 1A2 Genotype, Varies
2B6VCytochrome P450 2B6 Genotype, Varies
2C19VCytochrome P450 2C19 Genotype, Varies
2C9GVCytochrome P450 2C9 Genotype, Varies
2D6CVCytochrome P450 2D6 (CYP2D6) Comprehensive Cascade, Varies
3A4VCytochrome P450 3A4 Genotype, Varies
DRPLDentatorubral-Pallidoluysian Atrophy (DRPLA) Gene Analysis, Varies
DPYDGDihydropyrimidine Dehydrogenase (DPYD) Full Gene Sequencing
DPYDVDihydropyrimidine Dehydrogenase (DPYD) Genotype
DCMGPDilated Cardiomyopathy Multi-Gene Panel, Blood
DRD4Dopamine Receptor D4 Genotype (DRD4), Blood
DRD4ODopamine Receptor D4 Genotype (DRD4), Saliva
DBMDDuchenne/Becker Muscular Dystrophy, DMD Gene, Large Deletion/Duplication Analysis, Varies
EDSGPEhlers-Danlos Syndrome Panel (12 Genes), Next-Generation Sequencing and Deletion/Duplication Analysis, Varies
ESPANEpilepsy/Seizure Genetic Panels by Next-Generation Sequencing (NGS), Varies
EPORErythropoietin Receptor (EPOR) Gene, Exon 8 Sequencing
ESR1Estrogen Receptor 1 (ESR1) Mutation Analysis, Tumor
FABRZFabry Disease, Full Gene Analysis
F5DNAFactor V Leiden (R506Q) Mutation, Blood
FDPFamilial Dysautonomia, Mutation Analysis, IVS20(+6T->C) and R696P
FHRGPFamilial Hypercholesterolemia and Related Disorders Multi-Gene Panel
FMTTFamilial Mutation, Targeted Testing, Varies
FANCPFanconi Anemia C Mutation Analysis, IVS4(+4)A->T and 322delG
FAOFatty Acid Oxidation Probe Assay, Fibroblast Culture
FBN1BFBN1 Full Gene Sequence, Varies
FECHZFerrochelatase (FECH) Gene, Full Gene Analysis
FGAZFibrinogen Alpha-Chain (FGA) Gene, Full Gene Analysis
PGXFPFocused Pharmacogenomics Panel, Varies
XL2FOXL2 Mutation Analysis, Tumor
FXSFragile X Syndrome, Molecular Analysis, Varies
FFRBSFriedreich Ataxia, Frataxin, Quantitative, Blood Spot
FFRWBFriedreich Ataxia, Frataxin, Quantitative, Whole Blood
GFDZFTCD Gene, Full Gene Analysis
CBGCGalactocerebrosidase, Leukocytes
GALKGalactokinase, Blood
GALTGalactose-1-Phosphate Uridyltransferase (GALT), Blood
GALTPGalactose-1-Phosphate Uridyltransferase Biochemical Phenotyping, Erythrocytes
GAL14Galactosemia Gene Analysis (14-Mutation Panel)
GCTGalactosemia Reflex, Blood
GALTZGALT Gene, Full Gene Analysis
WGSEQGamma Globin Full Gene Sequencing, Varies
WGSQRGamma-Globin Full Gene Sequencing, Varies
GATA2GATA-Binding Protein 2 (GATA2) Comprehensive Gene Sequencing
GBAZGaucher Disease, Full Gene Analysis
GAUPGaucher Disease, Mutation Analysis, GBA
GSNZGelsolin (GSN) Gene, Full Gene Analysis
G6PDBGlucose-6-Phosphate Dehydrogenase (G6PD) Full Gene Sequencing
GNPTZGNPTAB Gene, Full Gene Analysis
GRHPZGRHPR Gene, Full Gene Analysis
HFEHemochromatosis HFE Gene Analysis, Blood
HBELCHemoglobin Electrophoresis Cascade, Blood
HAEVPHemolytic Anemia Evaluation
F8INPHemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Amniotic Fluid or Chorionic Villus Sampling
F8INVHemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Whole Blood
F81PHemophilia A F8 Gene, Intron 1 Inversion Known Mutation Analysis, Amniotic Fluid or Chorionic Villus Sampling
F81BHemophilia A F8 Gene, Intron 1 Inversion Known Mutation, Whole Blood
F822BHemophilia A F8 Gene, Intron 22 Inversion Known Mutation, Whole Blood
F822PHemophilia A F8 Gene, Intron 22 Inversion Mutation Analysis, Amniotic Fluid or Chorionic Villus Sampling
F9KMPHemophilia B, F9 Gene Known Mutation Analysis, Amniotic Fluid or Chorionic Villus Sampling
FIXKMHemophilia B, F9 Gene Known Mutation, Whole Blood
F9MAPHemophilia B, F9 Gene Mutation Analysis, Amniotic Fluid or Chorionic Villus Sampling
FIXMSHemophilia B, F9 Gene Mutation Analysis, Whole Blood
BRCRCHereditary Breast and Colorectal Cancer Panel
COLABHereditary Colon Cancer CGH Array
HCRCHereditary Colon Cancer Multi-Gene Panel
HEMPHereditary Erythrocytosis Mutations
NGHHAHereditary Hemolytic Anemia Comprehensive Sequencing, Varies
HHTGPHereditary Hemorrhagic Telangiectasia Gene Panel
HPPANHereditary Pancreatitis Panel, Varies
HPGPHereditary Pheochromocytoma/Paraganglioma Multi Gene Panel
MUGSHexosaminidase A (MUGS), Serum
NAGWHexosaminidase A and Total Hexosaminidase, Leukocytes
NAGSHexosaminidase A and Total Hexosaminidase, Serum
NAGRHexosaminidase A and Total, Leukocytes/Molecular Reflex
HL57VHLA-B*57:01 Genotype, Pharmacogenomics
HLA58HLA-B*5801 Genotype, Allopurinol Hypersensitivity, Blood
HL58OHLA-B*5801 Genotype, Allopurinol Hypersensitivity, Saliva
HMBSZHMBS Gene, Full Gene Analysis
MPS2ZHunter Syndrome, Full Gene Analysis
HADHuntington Disease, Molecular Analysis, Varies
MPS1ZHurler Syndrome, Full Gene Analysis, Varies
HCMGPHypertrophic Cardiomyopathy Multi-Gene Panel, Blood
HIF2AHypoxia-Inducible Factor Alpha (EPAS1/HIF2A) Gene, Exons 9 and 12 Sequencing
I2SBSIduronate-2-Sulfatase, Blood Spot
I2SWIduronate-2-Sulfatase, Whole Blood
IBDGPInflammatory Bowel Disease Primary Immunodeficiency (PID) Panel
IL28VInterleukin 28B (IL28B) Variant (rs12979860), Varies
IDH12Isocitrate Dehydrogenase 1 and 2 (IDH1/IDH2) Mutation Analysis, Tumor
XYMFKnown 45,X, Mosaicism Reflex Analysis, FISH
KVAR1Known Variant Analysis-1 Variant, Varies
KVAR2Known Variant Analysis-2 Variants, Varies
KVAR3Known Variant Analysis-3+ Variants, Varies
KD2TKrabbe Disease Second-Tier Newborn Screen, Blood Spot
KRABZKrabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, PCR
LQTGPLong QT Syndrome Multi-Gene Panel, Blood
LUNGRLung Cancer Rearrangement Testing, Tumor
LNGPRLung Cancer-Targeted Gene Panel with Rearrangement, Tumor
LUNGPLung Cancer-Targeted Gene Panel, Tumor
LYNCHLynch Syndrome Panel
LALBLysosomal Acid Lipase, Blood
LALBSLysosomal Acid Lipase, Blood Spot
PLSDLysosomal and Peroxisomal Storage Disorders Screen, Blood Spot
LPGDLysosomal, Peroxisomal, Glycogen, and Neuronal Ceroid Lipofuscinosis Panels, Next-Generation Sequencing, Varies
LYZZLysozyme (LYZ) Gene, Full Gene Analysis
MAPTZMAPT Gene, Sequence Analysis, 7 Exon Screening Panel
MFRGPMarfan Syndrome and Related Disorders Multi-Gene Panel, Varies
MPAMLMatePair, Acute Myeloid Leukemia (AML) Panel
MTRBLMatePair, Targeted Rearrangements, Congenital
MTRBMMatePair, Targeted Rearrangements, Hematologic, Varies
MTRTIMatePair, Targeted Rearrangements, Oncology
MATCCMaternal Cell Contamination, Molecular Analysis
MECPZMECP2 Gene, Full Gene Analysis, Varies
MCADZMedium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Full Gene Analysis
MEVPMethemoglobinemia Evaluation
MHCZMethylmalonic Aciduria and Homocystinuria, cblC Type, Full Gene Analysis
MHDZMethylmalonic Aciduria and Homocystinuria, cblD Type, Full Gene Analysis
MITOPMitochondrial Full Genome Analysis by Next-Generation Sequencing (NGS), Varies
MITONMitochondrial Nuclear Gene Panel by Next-Generation Sequencing (NGS), Varies
MLH1ZMLH1 Gene, Full Gene Analysis
MLHPBMLH1 Hypermethylation Analysis, Blood
MLYCZMLYCD Gene, Full Gene Analysis
MSH2ZMSH2 Gene, Full Gene Analysis
MSH6ZMSH6 Gene, Full Gene Analysis
SFPANMucopolysaccharidosis III, Multi-Gene Panel
MP3AZMucopolysaccharidosis IIIA, Full Gene Analysis
MP3BZMucopolysaccharidosis IIIB, Full Gene Analysis
MP3CZMucopolysaccharidosis IIIC, Full Gene Analysis
MP3DZMucopolysaccharidosis IIID, Full Gene Analysis
MPS6ZMucopolysaccharidosis VI, Full Gene Analysis
SUMFZMultiple Sulfatase Deficiency, Full Gene Analysis
MYHZMUTYH Gene, Full Gene Analysis
G6SWN-Acetylgalactosamine-6-Sulfatase, Leukocytes
NAT2N-Acetyltransferase 2 Gene (NAT2), Full Gene Sequence
NAT2ON-Acetyltransferase 2 Gene (NAT2), Full Gene Sequence, Saliva
NEURFNeuraminidase, Fibroblasts
NMPANNeuromuscular Genetic Panels by Next-Generation Sequencing (NGS), Varies
NADFNewborn Aneuploidy Detection, FISH
NPABZNiemann-Pick Disease, Types A and B, Full Gene Analysis
NIEMNiemann-Pick Type C Detection, Fibroblasts
NPCZNiemann-Pick Type C Disease, Full Gene Analysis
NSRGPNoonan Syndrome and Related Disorders Multi-Gene Panel, Blood
NPPANPeripheral Neuropathy Genetic Panels by Next-Generation Sequencing (NGS), Blood
PHAGPPhagocytic Primary Immunodeficiency (PID) Gene Panel
PMMILPhosphomannomutase (PMM) and Phosphomannose Isomerase (PMI), Leukocytes
PMPDDPMP22 Gene, Large Deletion/Duplication Analysis, Varies
PMS2ZPMS2 Gene, Full Gene Analysis
PD2TPompe Disease Second-Tier Newborn Screening, Blood Spot
PDBSPompe Disease, Blood Spot
GAAZPompe Disease, Full Gene Analysis, Varies
PBGDWPorphobilinogen Deaminase (PBGD), Washed Erythrocytes
PBGD_Porphobilinogen Deaminase (PBGD), Whole Blood
PMARPPostmortem Arrhythmia Panel, Varies
PMCMPPostmortem Cardiomyopathy Panel, Varies
PMMFRPostmortem Marfan and Related Panel, Varies
PMNSRPostmortem Noonan and Related Panel, Varies
PPOXZPPOX Gene, Full Gene Analysis
PWASPrader-Willi/Angelman Syndrome, Molecular Analysis, Varies
PADFPrenatal Aneuploidy Detection, FISH
POCFProducts of Conception (POC) Aneuploidy Detection, FISH, Paraffin-Embedded Tissue
GRNZProgranulin Gene (GRN), Full Gene Analysis
PHD2Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing
PTNTProthrombin G20210A Mutation, Blood
PRSSZPRSS1 Gene, Full Gene Analysis
PSYGPPsychotropic Pharmacogenomics Gene Panel, Varies
PTENZPTEN Gene, Full Gene Analysis
PDHCPyruvate Dehydrogenase Complex (PDHC), Fibroblasts
PKLRGPyruvate Kinase Liver and Red Blood Cell (PKLR), Full Gene Sequencing and Large Deletion Detection, Varies
NGENZRed Blood Cell Enzyme Sequencing, Varies
NGMEMRed Blood Cell Membrane Sequencing, Varies
RETZRET Proto-Oncogene, Full Gene Analysis, Varies
SDHBZSDHB Gene, Full Gene Analysis
SDHCZSDHC Gene, Full Gene Analysis
SDHDZSDHD Gene, Full Gene Analysis
HTTSerotonin Transporter Genotype, Blood
HTTOSerotonin Transporter Genotype, Saliva
SERPZSERPINA1 Gene, Full Gene Analysis
SCDGPSevere Combined Immunodeficiency (SCID) Gene Panel
SCDT2Severe Combined Immunodeficiency Syndrome (SCID) Newborn Screening, Blood Spot
SCTFSex Chromosome Determination, FISH, Tissue
SRYFSex-Determining Region Y, Yp11.3 Deletion, FISH
SCADZShort-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency, Full Gene Analysis
SMADZSMAD4 Gene, Full Gene Analysis
SMN1ZSMN1 Gene, Full Gene Analysis
SLC1VSolute Carrier Organic Anion Transporter Family Member 1B1 (SLCO1B1) Genotype, Statin, Varies
SMNCSSpinal Muscular Atrophy Carrier Screening, Deletion/Duplication Analysis, Varies
SMNDXSpinal Muscular Atrophy Diagnostic Assay, Deletion/Duplication Analysis, Varies
SPNKZSPINK1 Gene, Full Gene Analysis, Varies
SBULBSpinobulbar Muscular Atrophy (Kennedy Disease), Molecular Analysis, Varies
STKZSTK11 Gene, Full Gene Analysis
HEXAZTay-Sachs Disease, HEXA Gene, Full Gene Analysis
TSDPTay-Sachs Disease, Mutation Analysis, HEXA
TELGPTelomere Defects Gene Panel
TERTTERT Promoter Analysis, Tumor
THEVPThalassemia and Hemoglobinopathy Evaluation
TPMT3Thiopurine Methyltransferase (TPMT) Activity Profile, Erythrocytes
TPNUVThiopurine Methyltransferase (TPMT) and Nudix Hydrolase (NUDT15) Genotyping, Varies
THRMPThrombophilia Profile
TP53ZTP53 Gene, Li Fraumeni Syndrome, Full Gene Analysis, Varies
TACIFTransmembrane Activator and CAML Interactor (TACI) Gene, Full Gene Analysis
TPPTLTripeptidyl Peptidase 1 (TPP1) and Palmitoyl-Protein Thioesterase 1 (PPT1), Leukocytes
ATTRZTTR Gene, Full Gene Analysis
UBE3ZUBE3A Gene, Full Gene Analysis
GALEUDP-Galactose 4' Epimerase (GALE), Blood
UGTFGUDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing
U1A1VUDP-Glucuronosyl Transferase 1A1 TA Repeat Genotype, UGT1A1
UNIPDUniparental Disomy
UPGDWUroporphyrinogen Decarboxylase (UPG D), Washed Erythrocytes
UPGDUroporphyrinogen Decarboxylase (UPG D), Whole Blood
UPGCUroporphyrinogen III Synthase (Co-Synthase) (UPG III S), Erythrocytes
VLCZVery Long Chain Acyl-CoA Dehydrogenase Deficiency, Full Gene Analysis
VHLEVHL Gene, Erythrocytosis Mutation Analysis
VHLZVHL Gene, Full Gene Analysis
VWD2Nvon Willebrand Disease 2N (Subtype Normandy), Blood
WARSVWarfarin Response Genotype, Varies
WESWhole Exome Sequencing
WS7FWilliams Syndrome, 7q11.23 Deletion, FISH
WDZWilson Disease, Full Gene Analysis, Varies
BUCCFX and Y Aneuploidy Detection, Buccal Smear, FISH
XALDZX-Linked Adrenoleukodystrophy, Full Gene Analysis
YMCROY Chromosome Microdeletions, Molecular Detection
MULTZygosity Testing (Multiple Births)