TESTS BY CLASSIFICATION TYPE

NY State Informed Consent Tests

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, Varies
2OHGP2-Hydroxyglutaric Aciduria Gene Panel, Varies
CYPZ21-Hydroxylase Gene, CYP21A2, Full Gene Analysis, Varies
DD22F22q11.2 Deletion/Duplication, FISH, Varies
3MGAP3-Methylglutaconic Aciduria Panel, Varies
GAAWRAcid Alpha-Glucosidase Reflex, Leukocytes
GAAWAcid Alpha-Glucosidase, Leukocytes
ASMWAcid Sphingomyelinase, Leukocytes
APGPAcute Porphyria Gene Panel, Varies
AGXTZAGXT Gene, Full Gene Analysis, Varies
WASEQAlpha Globin Gene Sequencing, Varies
FUCWAlpha-Fucosidase, Leukocytes
AGABSAlpha-Galactosidase, Blood Spot
AGAWAlpha-Galactosidase, Leukocytes
AGASAlpha-Galactosidase, Serum
ATHALAlpha-Globin Gene Analysis, Varies
WASQRAlpha-Globin Gene Sequencing, Blood
IDUAWAlpha-L-Iduronidase, Leukocytes
MANNAlpha-Mannosidase, Leukocytes
ANASAlpha-N-Acetylglucosaminidase, Serum
AIHLAminoglycoside-Induced Hearing Loss, Targeted Variant Testing, Droplet Digital PCR, Varies
ALADWAminolevulinic Acid Dehydratase, Washed Erythrocytes
ALADAminolevulinic Acid Dehydratase, Whole Blood
ATNGSAntithrombin Deficiency, SERPINC1 Gene, Next-Generation Sequencing, Varies
APOL1APOL1 Genotype, Varies
APO1ZApolipoprotein A-I (APOA1) Gene, Full Gene Analysis, Varies
APO2ZApolipoprotein A-II (APOA2) Gene, Full Gene Analysis, Varies
APOEGApolipoprotein E Genotyping, Blood
ARVGPArrhythmogenic Cardiomyopathy Multi-Gene Panel, Blood
ARSUArylsulfatase A, 24 Hour, Urine
ARSAWArylsulfatase A, Leukocytes
HHLPAudioloGene Hereditary Hearing Loss Panel, Varies
AUTOPAutoinflammatory Primary Immunodeficiency (PID) Gene Panel, Varies
ARPKZAutosomal Recessive Polycystic Kidney Disease, Full Gene Analysis, Varies
BCLGPB-Cell Deficiency Primary Immunodeficiency Disorder Panel (34 genes), Next-Generation Sequencing, Varies
BAP1ZBAP1-Tumor Predisposition Syndrome, BAP1 Full Gene Analysis, Varies
BWRSBeckwith-Wiedemann Syndrome/Russell-Silver Syndrome, Molecular Analysis, Varies
WBSEQBeta Globin Gene Sequencing, Varies
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
GBAWBeta-Glucosidase, Leukocytes
BTDZBiotinidase Deficiency, BTD Full Gene Analysis, Varies
BIOTSBiotinidase, Serum
BHDZBirt-Hogg-Dube Syndrome, FLCN, Full Gene Analysis, Varies
HBOCZBRCA1/BRCA2 Genes, Full Gene Analysis, Varies
BRGGPBrugada Syndrome Multi-Gene Panel, Blood
BTKSBruton Tyrosine Kinase (BTK) Genotype, Full Gene Sequence, Blood
C9ORFC9orf72 Hexanucleotide Repeat, Molecular Analysis, Varies
CARBRCarbamazepine Hypersensitivity Pharmacogenomics, Varies
CASRZCASR Gene, Full Gene Analysis, Varies
COMTQCatechol-O-Methyltransferase (COMT) Genotype, Varies
CDKZCDKN1C Gene, Full Gene Analysis, Varies
CFTRZCFTR Gene, Full Gene Analysis, Varies
CHLGPCholestasis Gene Panel, Varies
CMAPCChromosomal Microarray, Autopsy, Products of Conception, or Stillbirth, Varies
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
CHRTIChromosome Analysis, Skin Biopsy
MITOTCombined Mitochondrial Analysis, Mitochondrial Full Genome and Nuclear Gene Panel, Varies
AHUSPComplement-Mediated Atypical Hemolytic-Uremic Syndrome (aHUS)/Thrombotic Microangiopathy (TMA) Gene Panel, Varies
CCMGPComprehensive Cardiomyopathy Multi-Gene Panel, Blood
EPPANComprehensive Epilepsy With or Without Encephalopathy Gene Panel, Varies
CDGGPCongenital Disorders of Glycosylation Gene Panel, Varies
NGCDACongenital Dyserythropoietic Anemia Panel, Next-Generation Sequencing, Varies
FIBNGCongenital Fibrinogen Disorders, FGA, FGB, and FGG Genes, Next-Generation Sequencing, Varies
CLADPCongenital Lactic Acidosis Panel, Varies
SCNGPCongenital Neutropenia, Primary Immunodeficiency Disorder Panel (18 genes), Next-Generation Sequencing, Varies
CSTBCSTB Gene, Repeat Expansion Analysis, Varies
CGPHCustom Gene Panel, Hereditary, Next-Generation Sequencing, Varies
CFPCystic Fibrosis Mutation Analysis, 106-Mutation Panel, Varies
CYSGPCystinuria Gene Panel, Varies
1A2QCytochrome P450 1A2 Genotype, Varies
2B6QCytochrome P450 2B6 Genotype, Varies
2C19RCytochrome P450 2C19 Genotype, Varies
2C9QTCytochrome P450 2C9 Genotype, Varies
2D6QCytochrome P450 2D6 Comprehensive Cascade, Varies
3A4QCytochrome P450 3A4 Genotype, Varies
3A5QCytochrome P450 3A5 Genotype, Varies
DRPLDentatorubral-Pallidoluysian Atrophy (DRPLA) Gene Analysis, Varies
DPYDQDihydropyrimidine Dehydrogenase Genotype, Varies
DPYDGDihydropyrimidine Dehydrogenase, DPYD Full Gene Sequencing, Varies
DCMGPDilated Cardiomyopathy Multi-Gene Panel, Next-Generation Sequencing, Blood
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
REVE1Erythrocytosis Evaluation, Whole Blood
EPORErythropoietin Receptor (EPOR) Gene, Exon 8 Sequencing, Whole Blood
F12NGF12 Gene, Next-Generation Sequencing, Varies
F13NGF13A1 and F13B Genes, Next-Generation Sequencing, Varies
F2NGSF2 Gene, Next-Generation Sequencing, Varies
F5NGSF5 Gene, Next-Generation Sequencing, Varies
FABRZFabry Disease, Full Gene Analysis, Varies
F5DNAFactor V Leiden (R506Q) Mutation, Blood
F7NGSFactor VII Deficiency, F7 Gene, Next-Generation Sequencing, Varies
F10NGFactor X Deficiency, F10 Gene, Next-Generation Sequencing, Varies
FHRGPFamilial Hypercholesterolemia and Related Disorders Multi-Gene Panel, Next-Generation Sequencing, Varies
FMTTFamilial Mutation, Targeted Testing, Varies
CMPREFamily Member Comparator Specimen for Exome Sequencing, Varies
HFAOPFatty Acid Oxidation Gene Panel, Varies
FAOFatty Acid Oxidation Probe Assay, Fibroblast Culture
FBN1BFBN1 Full Gene Sequence, Varies
FGAZFibrinogen Alpha-Chain (FGA) Gene, Full Gene Analysis, Varies
PGXQPFocused Pharmacogenomics Panel, Varies
FXSFragile X Syndrome, Molecular Analysis, Varies
FFRWBFriedreich Ataxia, Frataxin, Quantitative, Blood
FFRBSFriedreich Ataxia, Frataxin, Quantitative, Blood Spot
AFXNFriedreich Ataxia, Repeat Expansion Analysis, Varies
GALCRGalactocerebrosidase Reflex, Leukocytes
GALCWGalactocerebrosidase, Leukocytes
GALKGalactokinase, Blood
GALTPGalactose-1-Phosphate Uridyltransferase Biochemical Phenotyping, Erythrocytes
GALTGalactose-1-Phosphate Uridyltransferase, Blood
GAL14Galactosemia Gene Analysis, 14-Mutation Panel, Varies
GCTGalactosemia Reflex, Blood
GALZGalactosemia, GALT Gene, Full Gene Analysis, Varies
WGSEQGamma-Globin Full Gene Sequencing, Varies
GATA2GATA-Binding Protein 2 (GATA2), Full Gene, Next-Generation Sequencing, Varies
GBAZGaucher Disease, Full Gene Analysis, Varies
GSNZGelsolin (GSN) Gene, Full Gene Analysis
G6PDBGlucose-6-Phosphate Dehydrogenase (G6PD) Full Gene Sequencing, Varies
GA2PGlutaric Aciduria Type II Gene Panel, Varies
GSDGPGlycogen Storage Disease Gene Panel, Varies
GRHPZGRHPR Gene, Full Gene Analysis, Varies
HMEPHemiplegic Migraine With or Without Epilepsy Gene Panel, Varies
HBEL1Hemoglobin Electrophoresis Evaluation, Blood
HAEV1Hemolytic Anemia Evaluation, Blood
F8INPHemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Prenatal
F8INVHemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Whole Blood
F81PHemophilia A F8 Gene, Intron 1 Inversion Known Mutation Analysis, Prenatal, Varies
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, Prenatal, Varies
F8NGSHemophilia A, F8 Gene, Next-Generation Sequencing, Varies
NGSF9Hemophilia B, F9 Gene, Next-Generation Sequencing, Varies
F11NGHemophilia C, F11 Gene, Next-Generation Sequencing, Varies
BRGYPHereditary Breast/Gynecologic Cancer Panel, Varies
COMCPHereditary Common Cancer Panel, Varies
CDHZHereditary Diffuse Gastric Cancer Syndrome, CDH1, Full Gene Analysis, Varies
ENDCPHereditary Endocrine Cancer Panel, Varies
HEMPHereditary Erythrocytosis Mutations, Whole Blood
XCPHereditary Expanded Cancer Panel, Varies
CRCGPHereditary Gastrointestinal Cancer Panel, Varies
HFETHereditary Hemochromatosis, HFE Variant Analysis, Varies
NGHHAHereditary Hemolytic Anemia Comprehensive Panel, Next-Generation Sequencing, Varies
HHTGPHereditary Hemorrhagic Telangiectasia Gene Panel, Varies
LRCCZHereditary Leiomyomatosis and Renal Cell Cancer Syndrome, FH, Full Gene Analysis, Varies
PANCPHereditary Pancreatic Cancer Panel, Varies
HPPANHereditary Pancreatitis Panel, Varies
HPGLPHereditary Paraganglioma/Pheochromocytoma Panel, Varies
PRS8PHereditary Prostate Cancer Panel, Varies
RENCPHereditary Renal Cancer Panel, Varies
THYRPHereditary Thyroid Cancer Panel, Varies
WILMPHereditary Wilms Tumor Panel, Varies
NAGWHexosaminidase A and Total Hexosaminidase, Leukocytes
NAGSHexosaminidase A and Total Hexosaminidase, Serum
NAGRHexosaminidase A and Total, Leukocytes/Molecular Reflex, Whole Blood
MUGSHexosaminidase A, Serum
HL57RHLA-B*57:01 Genotype, Pharmacogenomics, Varies
HL58RHLA-B*5801 Genotype, Allopurinol Hypersensitivity, Varies
MPS2ZHunter Syndrome, Full Gene Analysis, Varies
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, Whole Blood
I2SWIduronate-2-Sulfatase, Blood
I2SBSIduronate-2-Sulfatase, Blood Spot
IBDGPInflammatory Bowel Disease Primary Immunodeficiency (PID) Panel, Varies
IL28QInterleukin 28B (IL28B) Variant (rs12979860), Varies
KCNN4KCNN4 Full Gene Sequencing, Varies
KETGPKetone Disorders Gene Panel, Varies
XYMFKnown 45,X, Mosaicism Reflex Analysis, FISH, Whole Blood
KD2TKrabbe Disease Second-Tier Newborn Screen, Blood Spot
KRABZKrabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, Varies
LQTGPLong QT Syndrome Multi-Gene Panel, Blood
LYNCPLynch Syndrome Panel, Varies
LALBLysosomal Acid Lipase, Blood
LALBSLysosomal Acid Lipase, Blood Spot
PLSDLysosomal and Peroxisomal Storage Disorders Screen, Blood Spot
LSDGPLysosomal Storage Disease Gene Panel, Varies
LSD6WLysosomal Storage Disorders, Six-Enzyme Panel, Leukocytes
LYZZLysozyme (LYZ) Gene, Full Gene Analysis, Varies
MSUDPMaple Syrup Urine Disease Gene Panel, Varies
MAPTZMAPT Gene, Sequence Analysis, 7 Exon Screening Panel, Varies
MFRGPMarfan Syndrome and Related Disorders Multi-Gene Panel, Varies
MATCCMaternal Cell Contamination, Molecular Analysis, Varies
MCP2ZMECP2 Gene, Full Gene Analysis, Varies
MCADZMedium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Full Gene Analysis, Varies
MEV1Methemoglobinemia Evaluation, Blood
MMAGPMethylmalonic Aciduria Gene Panel, Varies
MPAGPMethylmalonic Aciduria-Propionic Aciduria Combined Gene Panel, Varies
MITOPMitochondrial Full Genome Analysis, Next-Generation Sequencing (NGS), Varies
MITONMitochondrial Nuclear Gene Panel by Next-Generation Sequencing (NGS), Varies
MLHPBMLH1 Hypermethylation Analysis, Blood
MPLVSMPL Exon 10 Mutation Detection, Varies
RETZZMultiple Endocrine Neoplasia Type 2 Syndrome, RET, Full Gene Analysis, Varies
G6SWN-Acetylgalactosamine-6-Sulfatase, Leukocytes
NAT2QN-Acetyltransferase 2 (NAT2) Genotype, Varies
NF1ZNeurofibromatosis Type 1, NF1, Full Gene Analysis, Varies
NMPANNeuromuscular Genetic Panels by Next-Generation Sequencing (NGS), Varies
NCLGPNeuronal Ceroid Lipofuscinosis (Batten Disease) Gene Panel, Varies
NADFNewborn Aneuploidy Detection, FISH
NIEMNiemann-Pick Type C Detection, Fibroblasts
NSRGPNoonan Syndrome and Related Disorders Multi-Gene Panel, Blood
NTC3ZNOTCH3 Gene, Full Gene Analysis, Varies
NPPANPeripheral Neuropathy Genetic Panels, Next-Generation Sequencing (NGS), Blood
PDGPPeroxisomal Disorder Gene Panel, Varies
STK1ZPeutz-Jeghers Syndrome, STK11, Full Gene Analysis, Varies
PHAGPPhagocytic Primary Immunodeficiency Gene Panel, Varies
PHEGPPhenylalanine Disorders Gene Panel, Varies
PMMILPhosphomannomutase and Phosphomannose Isomerase, Leukocytes
PMPDDPMP22 Gene, Large Deletion/Duplication Analysis, Varies
PD2TPompe Disease Second-Tier Newborn Screening, Blood Spot
PDBSPompe Disease, Blood Spot
GAAZPompe Disease, Full Gene Analysis, Varies
PBGDWPorphobilinogen Deaminase, Washed Erythrocytes
PBGD_Porphobilinogen Deaminase, Whole Blood
PCGPPorphyria Comprehensive Gene Panel, Varies
PMARPPostmortem Arrhythmia Panel, Varies
PMCMPPostmortem Cardiomyopathy Panel, Varies
PMMFRPostmortem Marfan and Related Panel, Varies
PMNSRPostmortem Noonan and Related Panel, Varies
PWASPrader-Willi/Angelman Syndrome, Molecular Analysis, Varies
PADFPrenatal Aneuploidy Detection, FISH
PRKSDPRKAR1A Full Gene Sequencing and Deletion/Duplication Analysis, Varies
PRCNGPROCR Gene, Next-Generation Sequencing, Varies
GRNZProgranulin Gene (GRN), Full Gene Analysis, Varies
PHD2Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing, Whole Blood
FIBDDPROMETHEUS IBD sgi Diagnostic
PCNGSProtein C Deficiency, PROC Gene, Next-Generation Sequencing, Varies
PRSNGProtein S Deficiency, PROS1 Gene, Next-Generation Sequencing, Varies
PTNTProthrombin G20210A Mutation, Blood
PRSSZPRSS1 Gene, Full Gene Analysis, Varies
PSYQPPsychotropic Pharmacogenomics Gene Panel, Varies
PTNZPTEN Hamartoma Tumor Syndrome, PTEN Full Gene Analysis, Varies
PDHCPyruvate Dehydrogenase Complex, Fibroblasts
PKLRGPyruvate Kinase Liver and Red Blood Cell (PKLR), Full Gene Sequencing and Large Deletion Detection, Varies
NGENZRed Blood Cell Enzyme Panel, Next-Generation Sequencing, Varies
NGMEMRed Blood Cell Membrane Panel, Next-Generation Sequencing, Varies
HEXBZSandhoff Disease, HEXB Gene, Full Gene Analysis, Varies
SERPZSERPINA1 Gene, Full Gene Analysis, Varies
SCDGPSevere Combined Immunodeficiency Panel (63 genes), Next-Generation Sequencing, Varies
SCTFSex Chromosome Determination, FISH, Tissue
SRYFSex-Determining Region Y, Yp11.3 Deletion, FISH
DHCRZSmith Lemli Opitz Syndrome, DHCR7 Gene, Full Gene Analysis, Varies
SMN1ZSMN1 Gene, Full Gene Analysis, Varies
SLC1QSolute 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
SBULBSpinobulbar Muscular Atrophy (Kennedy Disease), Molecular Analysis, Varies
SCAPSpinocerebellar Ataxia Repeat Expansion Panel, Varies
SCARASpinocerebellar Ataxia Type 1, 2, 3, 6, or 7, Repeat Expansion Analysis, Varies
HEXAZTay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies
TELGPTelomere Defects Gene Panel
THEV1Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum
THBNGTHBD Gene, Next-Generation Sequencing, Varies
TPNUQThiopurine Methyltransferase (TPMT) and Nudix Hydrolase (NUDT15) Genotyping, Varies
TPMT3Thiopurine Methyltransferase Activity Profile, Erythrocytes
AATHRThrombophilia Profile, Plasma and Whole Blood
TPPTLTripeptidyl Peptidase 1 and Palmitoyl-Protein Thioesterase 1, Leukocytes
ATTRZTTR Gene, Full Gene Analysis, Varies
TSCPTuberous Sclerosis Gene Panel, Varies
TYRGPTyrosine Disorders Gene Panel, Varies
UGTFGUDP-Glucuronosyltransferase 1A1 (UGT1A1), Full Gene Sequencing, Varies
U1A1QUDP-Glucuronosyltransferase 1A1 TA Repeat Genotype, UGT1A1, Varies
UNIPDUniparental Disomy, Varies
UCDPUrea Cycle Disorders Gene Panel, Varies
GALEUridine Diphosphate--Galactose 4' Epimerase, Blood
UPGDWUroporphyrinogen Decarboxylase, Washed Erythrocytes
UPGDUroporphyrinogen Decarboxylase, Whole Blood
UPGCUroporphyrinogen III Synthase (Co-Synthase), Erythrocytes
VLCZVery Long Chain Acyl-CoA Dehydrogenase Deficiency, Full Gene Analysis, Varies
VHLEVHL Gene, Erythrocytosis, Mutation Analysis, Varies
VHLZZVon Hippel Lindau Syndrome, VHL, Full Gene Analysis, Varies
VWFNGvon Willebrand Disease, VWF Gene, Next-Generation Sequencing, Varies
WARSQWarfarin Response Genotype, Varies
WESMTWhole Exome and Mitochondrial Genome Sequencing, Varies
WESDXWhole Exome Sequencing for Hereditary Disorders , Varies
WESRWhole Exome Sequencing Reanalysis, Varies
WS7FWilliams Syndrome, 7q11.23 Deletion, FISH, Varies
WDZWilson Disease, Full Gene Analysis, Varies
XALDZX-Linked Adrenoleukodystrophy, Full Gene Analysis, Varies
YMCROY Chromosome Microdeletions, Molecular Detection, Varies
MULTZygosity Testing (Multiple Births), Varies