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New York State (NYS) Informed Consent Test List

This is the list of Mayo Medical Laboratories tests that require New York State clients to have informed consent on file to comply with state regulations.

Mayo Test ID Test Name
FBP115q Deletion, Type I and Type II Characterization, Prader-Willi/Angelman Syndromes, FISH
DUP1515q11.2 Duplication, FISH
FP731p36.3 Microdeletion Syndrome, FISH
CYPPS21-Hydroxylase Gene (CYP21A2), Full Gene Analysis
CYCMS21-Hydroxylase Gene (CYP21A2), Full Gene Analysis, Prenatal
CAT2222q11.2 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
ACHE_Acetylcholinesterase, Amniotic Fluid (AChE-AF), Amniotic Fluid
GAABSAcid Alpha-Glucosidase, Blood Spot
PPANAcute Porphyria, Multi-Gene Panel
AGXMSAGXT Gene, Full Gene Analysis
AGXKMAGXT Gene, Known Mutation
AGXTAlanine:Glyoxylate Aminotransferase (AGXT) Mutation Analysis (G170R), Blood
A1ATRAlpha-1-Antitrypsin Deficiency Profile
FUCTAlpha-Fucosidase, Fibroblasts
FUCWAlpha-Fucosidase, Leukocytes
AGABSAlpha-Galactosidase, Blood Spot
AGAAlpha-Galactosidase, Leukocytes
AGASAlpha-Galactosidase, Serum
AGPBAlpha-Globin Gene Analysis
IDSWBAlpha-L-Iduronidase, Blood
IDSBSAlpha-L-Iduronidase, Blood Spot
IDSTAlpha-L-Iduronidase, Fibroblasts
MANTAlpha-Mannosidase, Fibroblasts
MANNAlpha-Mannosidase, Leukocytes
ANATAlpha-N-Acetylglucosaminidase, Fibroblasts
ANASAlpha-N-Acetylglucosaminidase, Serum
ALAURAminolevulinic Acid (ALA), Urine
ALADWAminolevulinic Acid Dehydratase (ALA-D), Washed Erythrocytes
ALADAminolevulinic Acid Dehydratase (ALAD), Whole Blood
AFCAmniotic Fluid Culture for Genetic Testing
AMYLAmyloidosis, Transthyretin-Associated Familial, DNA Sequence, Blood
AMYKMAmyloidosis, Transthyretin-Associated Familial, Known Mutation
TTRXAmyloidosis, Transthyretin-Associated Familial, Reflex, Blood
FPOCAneuploidy Detection, Products of Conception (POC), FISH
APO1SApolipoprotein A-I (APOA1) Gene, Full Gene Analysis
APO1KApolipoprotein A-I (APOA1) Gene, Known Mutation
APO2SApolipoprotein A-II (APOA2) Gene, Full Gene Analysis
APO2KApolipoprotein A-II (APOA2) Gene, Known Mutation
APOBApolipoprotein B-100 Molecular Analysis, R3500Q and R3500W
APOEApolipoprotein E Genotyping, Blood
ARVGPArrhythmogenic Cardiomyopathy Multi-Gene Panel, Blood
ARSASARSA Gene, Full Gene Analysis
ARSAKARSA Gene, Known Mutation
ARSUArylsulfatase A, 24 Hour, Urine
ARSTArylsulfatase A, Fibroblasts
ARSAWArylsulfatase A, Leukocytes
ARSBArylsulfatase B, Fibroblasts
AJPWOAshkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis (CF)
AHUSCAtypical Hemolytic Uremic Syndrome (aHUS) Complement Panel, Serum and Plasma
ARPKDAutosomal Recessive Polycystic Kidney Disease (ARPKD), Full Gene Analysis
ARPKMAutosomal Recessive Polycystic Kidney Disease (ARPKD), Known Mutation
AXINSAXIN2 Gene, Full Gene Analysis
AXINKAXIN2 Gene, Known Mutation
MBCRBCR/ABL, Translocation 9;22, FISH (D-FISH)
BWSRSBeckwith-Wiedemann Syndrome (BWS)/Russell-Silver Syndrome (RSS) Molecular Analysis
BGAWBeta-Galactosidase, Blood
BGABSBeta-Galactosidase, Blood Spot
BGATBeta-Galactosidase, Fibroblasts
BGABeta-Galactosidase, Leukocytes
BGLTBeta-Glucosidase, Fibroblasts
BGLBeta-Glucosidase, Leukocytes
BGLRBeta-Glucuronidase, Fibroblasts
BTDMSBiotinidase Deficiency, BTD Full Gene Analysis
BTDKMBiotinidase Deficiency, BTD Gene, Known Mutation
BIOTSBiotinidase, Serum
BLMBloom Syndrome, Mutation Analysis, 2281del6/ins7
BMPMSBMPR1A Gene, Full Gene Analysis
BMPKMBMPR1A Gene, Known Mutation
BRGGPBrugada Syndrome Multi-Gene Panel, Blood
BTKFPBruton Tyrosine Kinase (BTK) Genotype and Protein Analysis, Full Gene Sequence and Flow Cytometry
BTKMPBruton Tyrosine Kinase (BTK) Genotype and Protein Analysis, Known Mutation Sequencing and Flow Cytometry
BTKSBruton Tyrosine Kinase (BTK) Genotype, Full Gene Sequence
BTKKBruton Tyrosine Kinase (BTK) Genotype, Known Mutation
C4UC4 Acylcarnitine, Quantitative, Urine
C5DCUC5-DC Acylcarnitine, Quantitative, Urine
C5OHUC5-OH Acylcarnitine, Quantitative, Urine
C9ORC9orf72 Hexanucleotide Repeat, Molecular Analysis
CSRSPCalcium Sensing Receptor (CASR) Gene, Full Gene Analysis
CSRSMCalcium Sensing Receptor (CASR) Gene, Full Gene Analysis
CSRKPCalcium Sensing Receptor (CASR) Gene, Known Mutation
CSRMKCalcium Sensing Receptor (CASR) Gene, Known Mutation
CANWCanavan Disease, Mutation Analysis, ASPA
CDGCarbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum
CPTMSCarnitine Palmitoyltransferase II Deficiency, Full Gene Analysis
CPTKMCarnitine Palmitoyltransferase II Deficiency, Known Mutation
CACTSCarnitine-Acylcarnitine Translocase Deficiency, Full Gene Analysis
CACTKCarnitine-Acylcarnitine Translocase Deficiency, Known Mutation
COMTOCatechol-O-Methyltransferase (COMT) Genotype, Saliva
COMTCatechol-O-Methyltransferase Genotype
CDH1SCDH1 Gene, Full Gene Analysis
CDH1KCDH1 Gene, Known Mutation
CDKMSCDKN1C Gene, Full Gene Analysis
CDKKMCDKN1C Gene, Known Mutation
CFTRMCFTR Gene, Full Gene Analysis
CFTRKCFTR Gene, Known Mutation
CHEKSCHEK2 Gene, Full Gene Analysis
CHEKKCHEK2 Gene, Known Mutation
CMACChromosomal Microarray, Congenital, Blood
CMAPDChromosomal Microarray, Prenatal, Amniotic Fluid/Chorionic Villus Sampling
AFChromosome Analysis, Amniotic Fluid
POCChromosome Analysis, Autopsy, Products of Conception, or Stillbirth
CVSChromosome Analysis, Chorionic Villus Sampling
CMSChromosome Analysis, for Congenital Disorders, Blood
SCEChromosome Analysis, Sister Chromatid Exchange (SCE) for Bloom Syndrome, Blood
CTIChromosome Analysis, Skin Biopsy
CCMGPComprehensive Cardiomyopathy Multi-Gene Panel, Blood
CPOXSCPOX Gene, Full Gene Analysis
CPOXKCPOX Gene, Known Mutation
CRDPUCreatine Disorders Panel, Urine
FCDCCri-du-chat Syndrome, 5p15.2 Deletion, FISH
3A5BCYP3A5 Genotype, Blood
3A5OCYP3A5 Genotype, Saliva
CFPBCystic Fibrosis Mutation Analysis, 106-Mutation Panel
CYSQNCystinuria Profile, Quantitative, 24 Hour, Urine
CYSRCystinuria Profile, Quantitative, Random, Urine
1A2Cytochrome P450 1A2 Genotype
1A2OCytochrome P450 1A2 Genotype, Saliva
2C19BCytochrome P450 2C19 Genotype, Blood
2C19CCytochrome P450 2C19 Genotype, Saliva
2C9BCytochrome P450 2C9 Genotype by Sequence Analysis, Blood
2C9CCytochrome P450 2C9 Genotype by Sequence Analysis, Saliva
2D6CBCytochrome P450 2D6 (CYP2D6) Comprehensive Cascade, Blood
2D6OCytochrome P450 2D6 Genotype, Saliva
3A4BCytochrome P450 3A4 Genotype, Blood
3A4OCytochrome P450 3A4 Genotype, Saliva
DRPLADentatorubral-Pallidoluysian Atrophy (DRPLA) Gene Analysis
DCMGPDilated Cardiomyopathy Multi-Gene Panel, Blood
MPCRDNA Analysis B
DRD3Dopamine Receptor D3 Genotype
DRD3ODopamine Receptor D3 Genotype, Saliva
DRD4Dopamine Receptor D4 Genotype (DRD4), Blood
DRD4ODopamine Receptor D4 Genotype (DRD4), Saliva
REVPErythrocytosis Evaluation
EPORErythropoietin Receptor (EPOR) Gene, Exon 8 Sequencing
FABMSFabry Disease, Full Gene Analysis
FABKMFabry Disease, Known Mutation
F5DNAFactor V Leiden (R506Q) Mutation, Blood
FAPKMFamilial Adenomatous Polyposis (FAP) Known Mutation
FAPMSFamilial Adenomatous Polyposis (FAP) Mutation Screen
FDFamilial Dysautonomia, Mutation Analysis, IVS20(+6T->C) and R696P
LDLRSFamilial Hypercholesterolemia, LDLR Full Gene Sequencing
LDLRKFamilial Hypercholesterolemia, LDLR Gene, Known Mutation
LDLMFamilial Hypercholesterolemia, LDLR Large Deletion/Duplication, Molecular Analysis
ADHPFamilial Hypercholesterolemia/Autosomal Dominant Hypercholesterolemia Genetic Testing Reflex Panel
FANCAFanconi Anemia C Mutation Analysis, IVS4(+4)A->T and 322delG
FAOFatty Acid Oxidation Probe Assay, Fibroblast Culture
FBKMFBN1 Genetic Analysis, Known Mutation
FBN1FBN1, Full Gene Sequence
FBNNFBN1, Partial Gene Sequence, Neonatal Marfan Syndrome
FECHSFerrochelatase (FECH) Gene, Full Gene Analysis
FECHKFerrochelatase (FECH) Gene, Known Mutation
FLPFetal Lung Profile, Amniotic Fluid
FGAMSFibrinogen Alpha-Chain (FGA) Gene, Full Gene Analysis
FGAKMFibrinogen Alpha-Chain (FGA) Gene, Known Mutation
FLGAFLG Gene, Mutation Analysis
FXPBFragile X Syndrome, Molecular Analysis
FFRBSFriedreich Ataxia, Frataxin, Quantitative, Blood Spot
FFRWBFriedreich Ataxia, Frataxin, Quantitative, Whole Blood
GFDMSFTCD Gene, Full Gene Analysis
GFDKMFTCD Gene, Known Mutation
GATOLGalactitol, Quantitative, Urine
CBGTGalactocerebrosidase, Fibroblasts
CBGCGalactocerebrosidase, Leukocytes
GALKGalactokinase, Blood
GALTGalactose-1-Phosphate Uridyltransferase (GALT), Blood
GALTPGalactose-1-Phosphate Uridyltransferase Biochemical Phenotyping, Erythrocytes
GAL6Galactosemia Gene Analysis (6-Mutation Panel)
GALTKGalactosemia Gene Analysis, Known Mutation
GCTGalactosemia Reflex, Blood
GALTMGALT Gene, Full Gene Analysis
GBAMSGaucher Disease, Full Gene Analysis
GBAKMGaucher Disease, Known Mutation
GAUWGaucher Disease, Mutation Analysis, GBA
GSNMSGelsolin (GSN) Gene, Full Gene Analysis
GSNKMGelsolin (GSN) Gene, Known Mutation
GPSYGlucopsychosine, Blood Spot
ML23SGNPTAB Gene, Full Gene Analysis
ML23KGNPTAB Gene, Known Mutation
GRHMSGRHPR Gene, Full Gene Analysis
GRHKMGRHPR Gene, Known Mutation
HHEMOHemochromatosis 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
FIXKMHemophilia B, Factor IX Gene Known Mutation Screening
FIXMSHemophilia B, Factor IX Gene Mutation Screening
COLDBHereditary Colon Cancer CGH Array
HCCPHereditary Colon Cancer Multi-Gene Panel
HEMPHereditary Erythrocytosis Mutations
ACVKHereditary Hemorrhagic Telangiectasia, ACVRL1 Gene, Known Mutation
HHTPHereditary Hemorrhagic Telangiectasia, ENG and ACVRL1 Full Gene Analysis
HHTMHereditary Hemorrhagic Telangiectasia, ENG and ACVRL1 Large Deletion/Duplication, Molecular Analysis
ENGKHereditary Hemorrhagic Telangiectasia, ENG Gene, Known Mutation
HPKMHereditary Pancreatitis, Known Mutation
HPHereditary Pancreatitis, Mutation Screen
MUGSHexosaminidase A (MUGS), Serum
NAGWHexosaminidase A and Total Hexosaminidase, Leukocytes
NAGSHexosaminidase A and Total Hexosaminidase, Serum
NAGRHexosaminidase A and Total, Leukocytes/Molecular Reflex
HLA15HLA-B 1502 Genotype, Carbamazepine Hypersensitivity, Blood
HL15OHLA-B 1502 Genotype, Carbamazepine Hypersensitivity, Saliva
HLA57HLA-B 5701 Genotype, Abacavir Hypersensitivity, Blood
HL57OHLA-B 5701 Genotype, Abacavir Hypersensitivity, Saliva
HLA58HLA-B*5801 Genotype, Allopurinol Hypersensitivity, Blood
HL58OHLA-B*5801 Genotype, Allopurinol Hypersensitivity, Saliva
HMBSSHMBS Gene, Full Gene Analysis
HMBSKHMBS Gene, Known Mutation
HCMMHomocysteine (Total), Methylmalonic Acid, and Methylcitric Acid, Blood Spots
HOXB1HOXB13 Mutation Analysis (G84E)
HUNTSHunter Syndrome, Full Gene Analysis
HUNTKHunter Syndrome, Known Mutation
HDHuntington Disease, Molecular Analysis
HURLSHurler Syndrome, Full Gene Analysis
HURLKHurler Syndrome, Known Mutation
HYOXHyperoxaluria Panel, Urine
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
BIL28Interleukin 28B (IL28B) Polymorphism (rs12979860), Blood
OIL28Interleukin 28B (IL28B) Polymorphism (rs12979860), Saliva
IVDIsovaleryl-CoA Dehydrogenase (IVD) Mutation Analysis (A282V)
FKALKallmann Syndrome, Xp22.3 Deletion, FISH
FXYMKnown 45,X, Mosaicism Reflex Analysis, FISH
GALCSKrabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, PCR
GALCKKrabbe Disease, Known Mutation
KRASKKRAS Gene, Known Mutation, Blood
KRASBKRAS, Full Gene Sequence, Blood
LQTGPLong QT Syndrome Multi-Gene Panel, Blood
LPCBSLysophosphatidylcholines by Liquid Chromatography Tandem Mass Spectrometry (Reflex), Blood Spot
LALBLysosomal Acid Lipase, Blood
LALBSLysosomal Acid Lipase, Blood Spot
PLSDLysosomal and Peroxisomal Storage Disorders Screen, Blood Spot
LYZMSLysozyme (LYZ) Gene, Full Gene Analysis
LYZKMLysozyme (LYZ) Gene, Known Mutation
MAPTMMAPT Gene, Sequence Analysis, 7 Exon Screening Panel
MAPTKMAPT Gene, Sequence Analysis, Known Mutation
MFRGPMarfan Syndrome and Related Disorders Multi-Gene Panel, Blood
MCCMaternal Cell Contamination, Molecular Analysis
ME2MSMECP2 Gene, Full Gene Analysis
ME2KMMECP2 Gene, Known Mutation
MCADSMedium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Mutation Screen
MCADKMedium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency, Known Mutation
MEVPMethemoglobinemia Evaluation
MMAAFMethylmalonic Acid (MMA), Amniotic Fluid
MAHMSMethylmalonic Aciduria and Homocystinuria, cblC Type, Full Gene Analysis
MAHKMMethylmalonic Aciduria and Homocystinuria, cblC Type, Known Mutation
MHDMSMethylmalonic Aciduria and Homocystinuria, cblD Type, Full Gene Analysis
MHDKMMethylmalonic Aciduria and Homocystinuria, cblD Type, Known Mutation
FMDLMiller-Dieker Syndrome, 17p13.3 Deletion, FISH
MLHBLMLH1 Hypermethylation Analysis, Blood
MLHKMMLH1 Known Mutation
MLHMSMLH1 Mutation Screen
MLH12MLH1/MSH2 Mutation Screen
MLH3SMLH3 Gene, Full Gene Analysis
MLH3KMLH3 Gene, Known Mutation
MCDMSMLYCD Gene, Full Gene Analysis
MCDKMMLYCD Gene, Known Mutation
MSH2KMSH2 Known Mutation
MSH2MMSH2 Mutation Screen
MSH6KMSH6 Known Mutation
MSH6MMSH6 Mutation Screen, Blood
MCIVMucolipidosis IV, Mutation Analysis, IVS3(-2)A->G and del6.4kb
MP3ASMucopolysaccharidosis IIIA, Full Gene Analysis
MP3AKMucopolysaccharidosis IIIA, Known Mutation
MP3BSMucopolysaccharidosis IIIB, Full Gene Analysis
MP3BKMucopolysaccharidosis IIIB, Known Mutation
MPS6SMucopolysaccharidosis VI, Full Gene Analysis
MPS6KMucopolysaccharidosis VI, Known Mutation
MENKMMultiple Endocrine Neoplasia Type 2 (2A, 2B, FMTC) Known Mutation
MENMSMultiple Endocrine Neoplasia Type 2 (2A, 2B, FMTC) Mutation Screen
SUMFSMultiple Sulfatase Deficiency, Full Gene Analysis
SUMFKMultiple Sulfatase Deficiency, Known Mutation
MYHMYH Gene Analysis for Multiple Adenoma, Y165C and G382D
G6SWN-Acetylgalactosamine-6-Sulfatase, Leukocytes
G6STN-Acetylgalactosamine-6-Sulfate Sulfatase, Fibroblasts
NAT2N-Acetyltransferase 2 Gene (NAT2), Full Gene Sequence
NAT2ON-Acetyltransferase 2 Gene (NAT2), Full Gene Sequence, Saliva
NEURFNeuraminidase, Fibroblasts
NADNewborn Aneuploidy Detection, FISH
NPDMSNiemann-Pick Disease, Types A and B, Full Gene Analysis
NPDKMNiemann-Pick Disease, Types A and B, Known Mutation
NPDNiemann-Pick Disease, Types A and B, Mutation Analysis
NIEMNiemann-Pick Type C Detection, Fibroblasts
NPCKMNiemann-Pick Type C Disease, Known Mutation
NPCMSNiemann-Pick Type C, Full Gene Analysis
NS1Noonan Spectrum Sequence Panel 1 for KRAS, PTPN11, RAF1, SOS1, Blood
NSRGPNoonan Syndrome and Related Disorders Multi-Gene Panel, Blood
OPRM1Opioid Receptor, Mu 1 (OPRM1) Genotype for Naltrexone Efficacy
OPRMOOpioid Receptor, Mu 1 (OPRM1) Genotype for Naltrexone Efficacy, Saliva
OXYBSOxysterols, Blood Spots
OXNPOxysterols, Plasma
PPAPTParental Sample Prep for Prenatal Microarray Testing
PKUPhenylalanine and Tyrosine, Plasma
PMMIFPhosphomannomutase (PMM) and Phosphomannose Isomerase (PMI), Fibroblasts
PMMILPhosphomannomutase (PMM) and Phosphomannose Isomerase (PMI), Leukocytes
PIPAPipecolic Acid, Serum
PIPUPipecolic Acid, Urine
PMS2SPMS2 Gene, Full Gene Analysis
PMS2KPMS2 Gene, Known Mutation
TALDOPolyols, Quantitative, Urine
GAAMSPompe Disease, Full Gene Sequencing
GAAKMPompe Disease, Known Mutation
PBGDWPorphobilinogen Deaminase (PBGD), Washed Erythrocytes
PBGD_Porphobilinogen Deaminase (PBGD), Whole Blood
PBGUPorphobilinogen, Quantitative, Random, Urine
PEWEPorphyrins Evaluation, Washed Erythrocytes
PEEPorphyrins Evaluation, Whole Blood
FQPPSPorphyrins, Feces
PPOXSPPOX Gene, Full Gene Analysis
PPOXKPPOX Gene, Known Mutation
PWDNAPrader-Willi/Angelman Syndrome, Molecular Analysis
PADPrenatal Aneuploidy Detection, FISH
GRNMSProgranulin Gene (GRN), Full Gene Analysis
GRNKMProgranulin Gene (GRN), Known Mutation
PHD2Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing
PTNTProthrombin G20210A Mutation, Blood
PPFWEProtoporphyrins, Fractionation, Washed Erythrocytes
PPFEProtoporphyrins, Fractionation, Whole Blood
PSYPsychosine, Blood Spot
PTENSPTEN Gene, Full Gene Analysis
PTENKPTEN Gene, Known Mutation
PT1KPTPN11 Gene, Known Mutation, Blood
PT11PTPN11, Full Gene Sequence, Blood
PTP22PTPN22 Genotype, 1858C->T
PUPYPurine and Pyrimidine Panel, Urine
RAFKRAF1 Gene, Known Mutation, Blood
RAF1RAF1, Full Gene Sequence, Blood
SEPTKSEPT9 Gene, Known Mutation
SEPTSSEPT9 Gene, Mutation Screen
HTR2Serotonin Receptor Genotype (HTR2A and HTR2C)
HTR2OSerotonin Receptor Genotype (HTR2A and HTR2C), Saliva
HTTSerotonin Transporter Genotype, Blood
HTTOSerotonin Transporter Genotype, Saliva
FSCTSex Chromosome Determination, FISH, Tissue
FSRYSex-Determining Region Y, Yp11.3 Deletion, FISH
SCADKShort-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency, Known Mutation
SCADMShort-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency, Mutation Screen
SDELSingle-Gene Large Deletion and Duplication Analysis
SMADSSMAD4 Gene, Full Gene Analysis
SMADKSMAD4 Gene, Known Mutation
SLOSmith-Lemli-Opitz Screen, Plasma
FSMSSmith-Magenis/Potocki-Lupski Syndromes, 17p11.2 Deletion/Duplication, FISH
SLC1BSolute Carrier Organic Anion Transporter Family Member 1B1 (SLCO1B1) Genotype, Statin, Blood
SLC1OSolute Carrier Organic Anion Transporter Family Member 1B1 (SLCO1B1) Genotype, Statin, Saliva
SOSKSOS1 Gene, Known Mutation, Blood
SOS1FSOS1, Full Gene Sequence
SOS1SOS1, Full Gene Sequence, Blood
SPCIDSpecimen Source Identification
SPHTSphingomyelinase, Fibroblasts
SBMASpinobulbar Muscular Atrophy (Kennedy Disease), Molecular Analysis
FSTSSteroid Sulfatase Deficiency, Xp22.3 Deletion, FISH
STERSterols, Plasma
STKMSSTK11 Gene, Full Gene Analysis
STKKMSTK11 Gene, Known Mutation
FRTELSubtelomeric Region Anomalies, FISH
SDHSPSuccinate Dehydrogenase (SDH) Gene Analysis
SDHDDSuccinate Dehydrogenase (SDH) Gene, Deletion Detection
SDHKMSuccinate Dehydrogenase (SDH) Gene, Known Mutation
SDHSBSuccinate Dehydrogenase (SDH) Subunit B Gene Analysis
SDHSCSuccinate Dehydrogenase (SDH) Subunit C Gene Analysis
SDHSDSuccinate Dehydrogenase (SDH) Subunit D Gene Analysis
HEXMSTay-Sachs Disease, HEXA Gene, Full Gene Analysis
HEXKMTay-Sachs Disease, HEXA Gene, Known Mutation
TSDTay-Sachs Disease, Mutation Analysis, HEXA
TGFK1TGFBR1 Gene, Known Mutation
TGF1TGFBR1, Full Gene Sequence
TGFK2TGFBR2 Gene, Known Mutation
TGF2TGFBR2, Full Gene Sequence
THEVPThalassemia and Hemoglobinopathy Evaluation
GTPMTThiopurine Methyltransferase (TPMT) Genotyping, Blood
OTPMTThiopurine Methyltransferase (TPMT) Genotyping, Saliva
THRMPThrombophilia Profile
P53MSTP53 Gene, Full Gene Analysis
P53KMTP53 Gene, Known Mutation
TACIFTransmembrane Activator and CAML Interactor (TACI) Gene, Full Gene Analysis
TACIGTransmembrane Activator and CAML Interactor (TACI) Gene, Known Mutation Analysis
TPPTFTripeptidyl Peptidase 1 (TPP1) and Palmitoyl-Protein Thioesterase 1 (PPT1), Fibroblasts
TPPTLTripeptidyl Peptidase 1 (TPP1) and Palmitoyl-Protein Thioesterase 1 (PPT1), Leukocytes
UBEMSUBE3A Gene, Full Gene Analysis
UBEKMUBE3A Gene, Known Mutation
UGTKUDP-Glucuronosyl Transferase 1A1 (UGT1A1) Gene, Known Mutation
UGTKOUDP-Glucuronosyl Transferase 1A1 (UGT1A1) Gene, Known Mutation, Saliva
UGT2UDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing, Hyperbilirubinemia
UGT2OUDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing, Hyperbilirubinemia, Saliva
UGTIUDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing, Irinotecan Hypersensitivity
UGTIOUDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing, Irinotecan Hypersensitivity, Saliva
U1A1UDP-Glucuronosyl Transferase 1A1 TA Repeat Genotype, UGT1A1
U1A1OUDP-Glucuronosyl Transferase 1A1 TA Repeat Genotype, UGT1A1, Saliva
UPDUniparental Disomy
UPGDWUroporphyrinogen Decarboxylase (UPG D), Washed Erythrocytes
UPGDUroporphyrinogen Decarboxylase (UPG D), Whole Blood
UPGCUroporphyrinogen III Synthase (Co-Synthase) (UPG III S), Erythrocytes
VLCMSVery Long Chain Acyl-CoA Dehydrogenase Deficiency, Full Gene Analysis
VLCKMVery Long Chain Acyl-CoA Dehydrogenase Deficiency, Known Mutation
VHLDVon Hippel-Lindau (VHL) Deletion Detection
VHLSPVon Hippel-Lindau (VHL) Gene, Full Gene Analysis
VHLKPVon Hippel-Lindau (VHL) Gene, Known Mutation
VWD2Nvon Willebrand Disease 2N (Subtype Normandy), Blood
WARFBWarfarin Sensitivity Genotype by Sequence Analysis, Blood
WARFCWarfarin Sensitivity Genotype by Sequence Analysis, Saliva
WSCRWilliams Syndrome, 7q11.23 Deletion, FISH
WDKMWilson Disease Known Mutation, ATP7B DNA Sequencing
WDMSWilson Disease Mutation Screen, ATP7B DNA Sequencing
FWHSWolf-Hirschhorn Syndrome, 4p16.3 Deletion, FISH
FBUCCX and Y Aneuploidy Detection, Buccal Smear, FISH
FXISTX-Inactivation (XIST), Xq13.2 Deletion, FISH
XALDSX-Linked Adrenoleukodystrophy, Full Gene Analysis
XALDKX-Linked Adrenoleukodystrophy, Known Mutation
XANXanthine and Hypoxanthine, 24 Hour, Urine
YMICRY Chromosome Microdeletions, Molecular Detection
ZYGZygosity Testing (Multiple Births)