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, Varies
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
GAAWRAcid Alpha-Glucosidase Reflex, Leukocytes
GAAWAcid Alpha-Glucosidase, Leukocytes
ASMWAcid Sphingomyelinase, Leukocytes
APPANAcute Porphyria, Multi-Gene Panel, Varies
AGXTZAGXT Gene, Full Gene Analysis
WASQRAlpha Globin Gene Sequencing, Blood
WASEQAlpha Globin Gene Sequencing, Blood
FUCWAlpha-Fucosidase, Leukocytes
AGABSAlpha-Galactosidase, Blood Spot
AGAWAlpha-Galactosidase, Leukocytes
AGASAlpha-Galactosidase, Serum
ATHALAlpha-Globin Gene Analysis, Varies
IDUAWAlpha-L-Iduronidase, Leukocytes
MANNAlpha-Mannosidase, Leukocytes
ANASAlpha-N-Acetylglucosaminidase, Serum
ALADAminolevulinic Acid Dehydratase (ALAD), Whole Blood
ALADWAminolevulinic Acid Dehydratase, Washed Erythrocytes
CULAFAmniotic Fluid Culture for Genetic Testing
ATNGSAntithrombin Deficiency, SERPINC1 Gene, Next-Generation Sequencing, Varies
APCZAPC Gene, Full Gene Analysis, Varies
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, Varies
ARSUArylsulfatase A, 24 Hour, Urine
ARSAWArylsulfatase A, Leukocytes
AJPOAshkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis, Varies
AUTOPAutoinflammatory Primary Immunodeficiency (PID) Gene Panel, Varies
ARPKZAutosomal Recessive Polycystic Kidney Disease (ARPKD), Full Gene Analysis, Varies
BCLGPB-Cell Deficiency Primary Immunodeficiency Disorder Panel (34 genes), Next-Generation Sequencing, Varies
BWRSBeckwith-Wiedemann Syndrome/Russell-Silver Syndrome, Molecular Analysis, Varies
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
GBAWBeta-Glucosidase, Leukocytes
BTDZBiotinidase Deficiency, BTD Full Gene Analysis, Varies
BIOTSBiotinidase, Serum
FLCNZBirt-Hogg-Dube Syndrome, FLCN Full Gene Analysis< Varies
BMPRZBMPR1A Gene, Full Gene Analysis, Varies
BRAJ3BRCA1/BRCA2 Ashkenazi Jewish 3-Site Mutation Panel, Varies
BRCAZBRCA1/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
CANPCanavan Disease, ASPA Mutation Analysis, Varies
CARPBCarbamazepine Hypersensitivity Pharmacogenomics, Blood
CARPOCarbamazepine Hypersensitivity Pharmacogenomics, Saliva
CPT2ZCarnitine Palmitoyltransferase II Deficiency, Full Gene Analysis, Varies
CACTZCarnitine-Acylcarnitine Translocase Deficiency, Full Gene Analysis, Varies
CASRZCASR Gene, Full Gene Analysis
COMTVCatechol-O-Methyltransferase (COMT) Genotype, Varies
CDH1ZCDH1 Gene, Full Gene Analysis, Varies
CDKZCDKN1C Gene, Full Gene Analysis, Varies
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, Varies
CROMUChromium for Occupational Monitoring, Random, 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, Varies
CCMGPComprehensive Cardiomyopathy Multi-Gene Panel, Blood
CDGPCongenital Disorders of Glycosylation Genetic Panels by Next-Generation Sequencing (NGS)
NGCDACongenital Dyserythropoietic Anemia Panel, Next-Generation Sequencing, Varies
FIBNGCongenital Fibrinogen Disorders, FGA, FGB, and FGG Genes, Next-Generation Sequencing, Varies
SCNGPCongenital Neutropenia, Primary Immunodeficiency Disorder Panel (18 genes), Next-Generation Sequencing, Varies
CPOXZCPOX Gene, Full Gene Analysis, Varies
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
DPYDVDihydropyrimidine 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
ESPANEpilepsy/Seizure Genetic Panels by Next-Generation Sequencing (NGS), Varies
EPORErythropoietin Receptor (EPOR) Gene, Exon 8 Sequencing, Whole Blood
ESR1Estrogen Receptor 1 (ESR1) Mutation Analysis, Tumor
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
FDPFamilial Dysautonomia, Mutation Analysis, IVS20(+6T->C) and R696P, Varies
FHRGPFamilial Hypercholesterolemia and Related Disorders Multi-Gene Panel, Next-Generation Sequencing, Varies
FMTTFamilial Mutation, Targeted Testing, Varies
FANCPFanconi Anemia C Mutation Analysis, IVS4(+4)A->T and 322delG, Varies
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, Varies
GALCRGalactocerebrosidase Reflex, Leukocytes
GALCWGalactocerebrosidase, Leukocytes
GALKGalactokinase, Blood
GALTGalactose-1-Phosphate Uridyltransferase (GALT), Blood
GALTPGalactose-1-Phosphate Uridyltransferase Biochemical Phenotyping, Erythrocytes
GAL14Galactosemia Gene Analysis, 14-Mutation Panel, Varies
GCTGalactosemia Reflex, Blood
GALTZGALT Gene, Full Gene Analysis, Varies
WGSEQGamma Globin Full Gene Sequencing, Varies
WGSQRGamma-Globin Full Gene Sequencing, Varies
GATA2GATA-Binding Protein 2 (GATA2), Full Gene, Next-Generation Sequencing, Varies
GBAZGaucher Disease, Full Gene Analysis, Varies
GAUPGaucher Disease, Mutation Analysis, GBA, Varies
GSNZGelsolin (GSN) Gene, Full Gene Analysis
G6PDBGlucose-6-Phosphate Dehydrogenase (G6PD) Full Gene Sequencing, Varies
GNPTZGNPTAB Gene, Full Gene Analysis, Varies
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, 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
F9KMPHemophilia B, F9 Gene Known Mutation Analysis, Prenatal
FIXKMHemophilia B, F9 Gene Known Mutation, Whole Blood
NGSF9Hemophilia B, F9 Gene, Next-Generation Sequencing, Varies
F11NGHemophilia C, F11 Gene, Next-Generation Sequencing, Varies
BRCRCHereditary Breast and Colorectal Cancer Panel, Next-Generation Sequencing, Varies
COLABHereditary Colon Cancer CGH Array
HCRCHereditary Colon Cancer Multi-Gene Panel
HEMPHereditary Erythrocytosis Mutations, Whole Blood
NGHHAHereditary Hemolytic Anemia Comprehensive Panel, Next-Generation Sequencing, Varies
HHTGPHereditary Hemorrhagic Telangiectasia Gene Panel, Varies
HPPANHereditary Pancreatitis Panel, Varies
HPGPHereditary Pheochromocytoma/Paraganglioma Multi Gene 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
HL57VHLA-B*57:01 Genotype, Pharmacogenomics, Varies
HLA58HLA-B*5801 Genotype, Allopurinol Hypersensitivity, Blood
HL58OHLA-B*5801 Genotype, Allopurinol Hypersensitivity, Saliva
HMBSZHMBS Gene, Full Gene Analysis, 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
I2SBSIduronate-2-Sulfatase, Blood Spot
I2SWIduronate-2-Sulfatase, Whole Blood
IBDGPInflammatory Bowel Disease Primary Immunodeficiency (PID) Panel, Varies
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, Varies
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, Varies
LALBLysosomal Acid Lipase, Blood
LALBSLysosomal Acid Lipase, Blood Spot
PLSDLysosomal and Peroxisomal Storage Disorders Screen, Blood Spot
LSD6WLysosomal Storage Disorders, Six-Enzyme Panel, Leukocytes
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, Varies
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, Varies
MECPZMECP2 Gene, Full Gene Analysis, Varies
MCADZMedium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Full Gene Analysis, Varies
MEVPMethemoglobinemia Evaluation
MHCZMethylmalonic Aciduria and Homocystinuria, cblC Type, Full Gene Analysis, Varies
MHDZMethylmalonic Aciduria and Homocystinuria, cblD Type, Full Gene Analysis, Varies
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, Varies
MLHPBMLH1 Hypermethylation Analysis, Blood
MLYCZMLYCD Gene, Full Gene Analysis, Varies
MSH2ZMSH2 Gene, Full Gene Analysis, Varies
MSH6ZMSH6 Gene, Full Gene Analysis, Varies
SFPANMucopolysaccharidosis III, Multi-Gene Panel, Varies
MP3AZMucopolysaccharidosis IIIA, Full Gene Analysis, Varies
MP3BZMucopolysaccharidosis IIIB, Full Gene Analysis, Varies
MP3CZMucopolysaccharidosis IIIC, Full Gene Analysis, Varies
MP3DZMucopolysaccharidosis IIID, Full Gene Analysis, Varies
MPS6ZMucopolysaccharidosis VI, Full Gene Analysis, Varies
SUMFZMultiple Sulfatase Deficiency, Full Gene Analysis, Varies
MYHZMUTYH Gene, Full Gene Analysis, Varies
G6SWN-Acetylgalactosamine-6-Sulfatase, Leukocytes
NAT2ON-Acetyltransferase 2 Gene (NAT2), Full Gene Sequence, Saliva
NAT2N-Acetyltransferase 2 Gene (NAT2), Full Gene Sequence, Whole Blood
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, Varies
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, Varies
PMMILPhosphomannomutase and Phosphomannose Isomerase, Leukocytes
PMPDDPMP22 Gene, Large Deletion/Duplication Analysis, Varies
PMS2ZPMS2 Gene, Full Gene Analysis, Varies
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, 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
POCFProducts of Conception (POC) Aneuploidy Detection, FISH, Paraffin-Embedded Tissue
GRNZProgranulin Gene (GRN), Full Gene Analysis, Varies
PHD2Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing
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
PSYGPPsychotropic Pharmacogenomics Gene Panel, Varies
PTENZPTEN Gene, Full Gene Analysis, Varies
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 Panel, Next-Generation Sequencing, Varies
NGMEMRed Blood Cell Membrane Panel, Next-Generation Sequencing, Varies
RETZRET Proto-Oncogene, Full Gene Analysis, Varies
SDHBZSDHB Gene, Full Gene Analysis, Varies
SDHPSDHB, SDHC, SDHD Gene Panel, Varies
SDHCZSDHC Gene, Full Gene Analysis, Varies
SDHDZSDHD Gene, Full Gene Analysis, Varies
SERPZSERPINA1 Gene, Full Gene Analysis, Varies
SCDGPSevere Combined Immunodeficiency Panel (63 genes), Next-Generation Sequencing, Varies
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, Varies
FSHOXSHOX-DNA-DxTM
SMADZSMAD4 Gene, Full Gene Analysis, Varies
SMN1ZSMN1 Gene, Full Gene Analysis, Varies
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, Varies
HEXAZTay-Sachs Disease, HEXA Gene, Full Gene Analysis
TSDPTay-Sachs Disease, HEXA Mutation Analysis, Varies
TELGPTelomere Defects Gene Panel
TERTTERT Promoter Analysis, Tumor
THEVPThalassemia and Hemoglobinopathy Evaluation
THBNGTHBD Gene, Next-Generation Sequencing, Varies
TPNUVThiopurine Methyltransferase (TPMT) and Nudix Hydrolase (NUDT15) Genotyping, Varies
TPMT3Thiopurine Methyltransferase Activity Profile, Erythrocytes
AATHRThrombophilia Profile, Plasma and Whole Blood
TP53ZTP53 Gene, Li Fraumeni Syndrome, Full Gene Analysis, Varies
TPPTLTripeptidyl Peptidase 1 and Palmitoyl-Protein Thioesterase 1, Leukocytes
ATTRZTTR Gene, Full Gene Analysis
UBE3ZUBE3A Gene, Full Gene Analysis, Varies
GALEUDP-Galactose 4' Epimerase (GALE), Blood
UGTFGUDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing, Varies
U1A1VUDP-Glucuronosyl Transferase 1A1 TA Repeat Genotype, UGT1A1, Varies
UNIPDUniparental Disomy
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
VHLZVHL Gene, Full Gene Analysis, Varies
VWFNGvon Willebrand Disease, VWF Gene, Next-Generation Sequencing, Varies
WARSVWarfarin Response Genotype, Varies
WESPMWhole Exome Sequencing plus Whole Mitochondrial Genome Sequencing, Varies
WESWhole Exome Sequencing, Varies
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, Varies
YMCROY Chromosome Microdeletions, Molecular Detection, Varies
MULTZygosity Testing (Multiple Births)