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 |
|---|---|
| FBP1 | 15q Deletion, Type I and Type II Characterization, Prader-Willi/Angelman Syndromes, FISH |
| DUP15 | 15q11.2 Duplication, FISH |
| FP73 | 1p36.3 Microdeletion Syndrome, FISH |
| CYPSP | 21-Hydroxylase Gene (CYP21A2), Full Gene Analysis |
| CAT22 | 22q11.2 Deletion/Duplication, FISH |
| MTHAC | 5,10-Methylenetetrahydrofolate Reductase A1298C, Mutation, Blood |
| MTHP | 5,10-Methylenetetrahydrofolate Reductase C677T and A1298C Mutations, Blood |
| MTHFR | 5,10-Methylenetetrahydrofolate Reductase C677T, Mutation, Blood |
| ACHE_ | Acetylcholinesterase, Amniotic Fluid (AChE-AF), Amniotic Fluid |
| GAABS | Acid Alpha-Glucosidase, Blood Spot |
| PPAN | Acute Porphyria, Multi-Gene Panel |
| AGXMS | AGXT Gene, Full Gene Analysis |
| AGXKM | AGXT Gene, Known Mutation |
| AGXT | Alanine:Glyoxylate Aminotransferase (AGXT) Mutation Analysis (G170R), Blood |
| A1ATR | Alpha-1-Antitrypsin Deficiency Profile |
| FUCT | Alpha-Fucosidase, Fibroblasts |
| FUCW | Alpha-Fucosidase, Leukocytes |
| AGABS | Alpha-Galactosidase, Blood Spot |
| AGA | Alpha-Galactosidase, Leukocytes |
| AGAS | Alpha-Galactosidase, Serum |
| AGPB | Alpha-Globin Gene Analysis |
| IDST | Alpha-L-Iduronidase, Fibroblasts |
| MANT | Alpha-Mannosidase, Fibroblasts |
| MANN | Alpha-Mannosidase, Leukocytes |
| ANAT | Alpha-N-Acetylglucosaminidase, Fibroblasts |
| ANAS | Alpha-N-Acetylglucosaminidase, Serum |
| ALAUR | Aminolevulinic Acid (ALA), Urine |
| ALADW | Aminolevulinic Acid Dehydratase (ALA-D), Washed Erythrocytes |
| ALAD | Aminolevulinic Acid Dehydratase (ALAD), Whole Blood |
| AFC | Amniotic Fluid Culture for Genetic Testing |
| AMYL | Amyloidosis, Transthyretin-Associated Familial, DNA Sequence, Blood |
| AMYKM | Amyloidosis, Transthyretin-Associated Familial, Known Mutation |
| TTRX | Amyloidosis, Transthyretin-Associated Familial, Reflex, Blood |
| FPOC | Aneuploidy Detection, Products of Conception (POC), FISH |
| APO1S | Apolipoprotein A-I (APOA1) Gene, Full Gene Analysis |
| APO1K | Apolipoprotein A-I (APOA1) Gene, Known Mutation |
| APO2S | Apolipoprotein A-II (APOA2) Gene, Full Gene Analysis |
| APO2K | Apolipoprotein A-II (APOA2) Gene, Known Mutation |
| APOB | Apolipoprotein B-100 Molecular Analysis, R3500Q and R3500W |
| APOE | Apolipoprotein E Genotyping, Blood |
| ARSAS | ARSA Gene, Full Gene Analysis |
| ARSAK | ARSA Gene, Known Mutation |
| ARST | Arylsulfatase A, Fibroblasts |
| ARSAW | Arylsulfatase A, Leukocytes |
| ARSU | Arylsulfatase A, Urine |
| ARSB | Arylsulfatase B, Fibroblasts |
| AJPWO | Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis (CF) |
| ARPKD | Autosomal Recessive Polycystic Kidney Disease (ARPKD), Full Gene Analysis |
| ARPKM | Autosomal Recessive Polycystic Kidney Disease (ARPKD), Known Mutation |
| MBCR | BCR/ABL, Translocation 9;22, FISH (D-FISH) |
| BWSRS | Beckwith-Wiedemann Syndrome (BWS)/Russell-Silver Syndrome (RSS) Molecular Analysis |
| BGAW | Beta-Galactosidase, Blood |
| BGABS | Beta-Galactosidase, Blood Spot |
| BGAT | Beta-Galactosidase, Fibroblasts |
| BGA | Beta-Galactosidase, Leukocytes |
| BGLT | Beta-Glucosidase, Fibroblasts |
| BGL | Beta-Glucosidase, Leukocytes |
| BGLR | Beta-Glucuronidase, Fibroblasts |
| BTDMS | Biotinidase Deficiency, BTD Full Gene Analysis |
| BTDKM | Biotinidase Deficiency, BTD Gene, Known Mutation |
| BIOTS | Biotinidase, Serum |
| BLM | Bloom Syndrome, Mutation Analysis, 2281del6/ins7 |
| BTKFP | Bruton's Tyrosine Kinase (BTK) Genotype and Protein Analysis, Full Gene Sequence and Flow Cytometry |
| BTKMP | Bruton's Tyrosine Kinase (BTK) Genotype and Protein Analysis, Known Mutation Sequencing and Flow Cytometry |
| BTKS | Bruton's Tyrosine Kinase (BTK) Genotype, Full Gene Sequence |
| BTKK | Bruton's Tyrosine Kinase (BTK) Genotype, Known Mutation |
| C4U | C4 Acylcarnitine, Quantitative, Urine |
| C5DCU | C5-DC Acylcarnitine, Quantitative, Urine |
| C5OHU | C5-OH Acylcarnitine, Quantitative, Urine |
| CSRKM | Calcium Sensing Receptor (CASR) Gene, Known Mutation |
| CSRMS | Calcium Sensing Receptor (CASR) Gene, Mutation Screen |
| CANW | Canavan Disease, Mutation Analysis, ASPA |
| CDG | Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum |
| CPTMS | Carnitine Palmitoyltransferase II Deficiency, Full Gene Analysis |
| CPTKM | Carnitine Palmitoyltransferase II Deficiency, Known Mutation |
| CACTS | Carnitine-Acylcarnitine Translocase Deficiency, Full Gene Analysis |
| CACTK | Carnitine-Acylcarnitine Translocase Deficiency, Known Mutation |
| COMTO | Catechol-O-Methyltransferase (COMT) Genotype, Saliva |
| COMT | Catechol-O-Methyltransferase Genotype |
| CDKMS | CDKN1C Gene, Full Gene Analysis |
| CDKKM | CDKN1C Gene, Known Mutation |
| CFTRM | CFTR Gene, Full Gene Analysis |
| CFTRK | CFTR Gene, Known Mutation |
| AF | Chromosome Analysis, Amniotic Fluid |
| POC | Chromosome Analysis, Autopsy, Products of Conception, or Stillbirth |
| CVS | Chromosome Analysis, Chorionic Villus Sampling |
| CMS | Chromosome Analysis, for Congenital Disorders, Blood |
| SCE | Chromosome Analysis, Sister Chromatid Exchange (SCE) for Bloom Syndrome, Blood |
| CTI | Chromosome Analysis, Skin Biopsy |
| FCSP | Chromosome Anomalies, Unspecified Miscellaneous with Chromosome-Specific FISH Probes |
| CPOXS | CPOX Gene, Full Gene Analysis |
| CPOXK | CPOX Gene, Known Mutation |
| CRDPU | Creatine Disorders Panel, Urine |
| FCDC | Cri-du-chat Syndrome, 5p15.2 Deletion, FISH |
| CFPB | Cystic Fibrosis Mutation Analysis, 106-Mutation Panel |
| CYSQN | Cystinuria Profile, Quantitative, 24 Hour, Urine |
| CYSR | Cystinuria Profile, Quantitative, Random, Urine |
| 1A2 | Cytochrome P450 1A2 Genotype |
| 1A2O | Cytochrome P450 1A2 Genotype, Saliva |
| 2C19S | Cytochrome P450 2C19 Genotype by Sequence Analysis |
| 2C19O | Cytochrome P450 2C19 Genotype by Sequence Analysis, Saliva |
| 2C9S | Cytochrome P450 2C9 Genotype by Sequence Analysis, Blood |
| 2C9SO | Cytochrome P450 2C9 Genotype by Sequence Analysis, Saliva |
| 2D6 | Cytochrome P450 2D6 Genotype |
| 2D6T | Cytochrome P450 2D6 Genotype for Tamoxifen Hormonal Therapy |
| 2D6TO | Cytochrome P450 2D6 Genotype for Tamoxifen Hormonal Therapy, Saliva |
| 2D6O | Cytochrome P450 2D6 Genotype, Saliva |
| DRPLA | Dentatorubral-Pallidoluysian Atrophy (DRPLA) Gene Analysis |
| MPCR | DNA Analysis B |
| DRD3 | Dopamine Receptor D3 Genotype |
| DRD3O | Dopamine Receptor D3 Genotype, Saliva |
| DRD4 | Dopamine Receptor D4 Genotype (DRD4), Blood |
| DRD4O | Dopamine Receptor D4 Genotype (DRD4), Saliva |
| REVP | Erythrocytosis Evaluation |
| EPOR | Erythropoietin Receptor (EPOR) Gene, Exon 8 Sequencing |
| FABMS | Fabry Disease, Full Gene Analysis |
| FABKM | Fabry Disease, Known Mutation |
| F5DNA | Factor V Leiden (R506Q) Mutation, Blood |
| FAPKM | Familial Adenomatous Polyposis (FAP) Known Mutation |
| FAPMS | Familial Adenomatous Polyposis (FAP) Mutation Screen |
| FD | Familial Dysautonomia, Mutation Analysis, IVS20(+6T->C) and R696P |
| LDLRS | Familial Hypercholesterolemia, LDLR Full Gene Sequencing |
| LDLRK | Familial Hypercholesterolemia, LDLR Gene, Known Mutation |
| LDLM | Familial Hypercholesterolemia, LDLR Large Deletion/Duplication, Molecular Analysis |
| ADHP | Familial Hypercholesterolemia/Autosomal Dominant Hypercholesterolemia Genetic Testing Reflex Panel |
| FANCA | Fanconi Anemia C Mutation Analysis, IVS4(+4)A->T and 322delG |
| FAO | Fatty Acid Oxidation Probe Assay, Fibroblast Culture |
| FBKM | FBN1 Genetic Analysis, Known Mutation |
| FBN1 | FBN1, Full Gene Sequence |
| FBNN | FBN1, Partial Gene Sequence, Neonatal Marfan Syndrome |
| FECHS | Ferrochelatase (FECH) Gene, Full Gene Analysis |
| FECHK | Ferrochelatase (FECH) Gene, Known Mutation |
| FLP | Fetal Lung Profile, Amniotic Fluid |
| FGAMS | Fibrinogen Alpha-Chain (FGA) Gene, Full Gene Analysis |
| FGAKM | Fibrinogen Alpha-Chain (FGA) Gene, Known Mutation |
| FXPB | Fragile X Syndrome, Molecular Analysis |
| FFRBS | Friedreich Ataxia, Frataxin, Quantitative, Blood Spot |
| FFRWB | Friedreich Ataxia, Frataxin, Quantitative, Whole Blood |
| GFDMS | FTCD Gene, Full Gene Analysis |
| GFDKM | FTCD Gene, Known Mutation |
| GALK | Galactokinase, Blood |
| GALT | Galactose-1-Phosphate Uridyltransferase (GALT), Blood |
| GALTP | Galactose-1-Phosphate Uridyltransferase Biochemical Phenotyping, Erythrocytes |
| GAL6 | Galactosemia Gene Analysis (6-Mutation Panel) |
| GALTK | Galactosemia Gene Analysis, Known Mutation |
| GCT | Galactosemia Reflex, Blood |
| CBGT | Galactosylceramide Beta-Galactosidase, Fibroblasts |
| CBGC | Galactosylceramide Beta-Galactosidase, Leukocytes |
| GALTM | GALT Gene, Full Gene Analysis |
| GBAMS | Gaucher Disease, Full Gene Analysis |
| GBAKM | Gaucher Disease, Known Mutation |
| GAUW | Gaucher Disease, Mutation Analysis, GBA |
| GSNMS | Gelsolin (GSN) Gene, Full Gene Analysis |
| GSNKM | Gelsolin (GSN) Gene, Known Mutation |
| GRHMS | GRHPR Gene, Full Gene Analysis |
| GRHKM | GRHPR Gene, Known Mutation |
| HHEMO | Hemochromatosis HFE Gene Analysis, Blood |
| HBELC | Hemoglobin Electrophoresis Cascade, Blood |
| HAEVP | Hemolytic Anemia Evaluation |
| HAPB | Hemophilia A, Molecular Analysis for Inversion, Diagnosis and Carrier Detection |
| HCCD | Hereditary Colon Cancer Multi-Gene Large Deletion and Duplication Analysis |
| HCCP | Hereditary Colon Cancer Multi-Gene Panel |
| HEMP | Hereditary Erythrocytosis Mutations |
| ACVK | Hereditary Hemorrhagic Telangiectasia, ACVRL1 Gene, Known Mutation |
| HHTP | Hereditary Hemorrhagic Telangiectasia, ENG and ACVRL1 Full Gene Analysis |
| HHTM | Hereditary Hemorrhagic Telangiectasia, ENG and ACVRL1 Large Deletion/Duplication, Molecular Analysis |
| ENGK | Hereditary Hemorrhagic Telangiectasia, ENG Gene, Known Mutation |
| HPKM | Hereditary Pancreatitis, Known Mutation |
| HP | Hereditary Pancreatitis, Mutation Screen |
| MUGS | Hexosaminidase A (MUGS), Serum |
| NAGW | Hexosaminidase A and Total Hexosaminidase, Leukocytes |
| NAGS | Hexosaminidase A and Total Hexosaminidase, Serum |
| NAGR | Hexosaminidase A and Total, Leukocytes/Molecular Reflex |
| HLA15 | HLA-B 1502 Genotype, Carbamazepine Hypersensitivity |
| HL15O | HLA-B 1502 Genotype, Carbamazepine Hypersensitivity, Saliva |
| HLA57 | HLA-B 5701 Genotype, Abacavir Hypersensitivity, Blood |
| HL57O | HLA-B 5701 Genotype, Abacavir Hypersensitivity, Saliva |
| HLA58 | HLA-B*5801 Genotype, Allopurinol Hypersensitivity, Blood |
| HL58O | HLA-B*5801 Genotype, Allopurinol Hypersensitivity, Saliva |
| HMBSS | HMBS Gene, Full Gene Analysis |
| HMBSK | HMBS Gene, Known Mutation |
| HCMM | Homocysteine (Total), Methylmalonic Acid, and Methylcitric Acid, Blood Spots |
| HD | Huntington Disease, Molecular Analysis |
| HURLS | Hurler Syndrome, Full Gene Analysis |
| HURLK | Hurler Syndrome, Known Mutation |
| HYOX | Hyperoxaluria Panel, Urine |
| HIF2A | Hypoxia-inducible Factor Alpha (EPAS1/HIF2A) Gene, Exon 12 Sequencing |
| IDNS | Iduronate Sulfatase, Fibroblasts |
| BIL28 | Interleukin 28B (IL28B) Polymorphism (rs12979860), Blood |
| OIL28 | Interleukin 28B (IL28B) Polymorphism (rs12979860), Saliva |
| IVD | Isovaleryl-CoA Dehydrogenase (IVD) Mutation Analysis (A282V) |
| FKAL | Kallmann Syndrome, Xp22.3 Deletion, FISH |
| FXYM | Known 45,X, Mosaicism Reflex Analysis, FISH |
| GALCS | Krabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, PCR |
| GALCK | Krabbe Disease, Known Mutation |
| KRASA | KRAS Mutation Analysis, 7 Mutation Panel, Other (Non-Colorectal) |
| LPCBS | Lysophosphatidylcholines by Liquid Chromatography Tandem Mass Spectrometry (Reflex), Blood Spot |
| PLSD | Lysosomal and Peroxisomal Storage Disorders Screen, Blood Spot |
| LYZMS | Lysozyme (LYZ) Gene, Full Gene Analysis |
| LYZKM | Lysozyme (LYZ) Gene, Known Mutation |
| MAPTM | MAPT Gene, Sequence Analysis, 7 Exon Screening Panel |
| MAPTK | MAPT Gene, Sequence Analysis, Known Mutation |
| MCC | Maternal Cell Contamination, Molecular Analysis |
| ME2MS | MECP2 Gene, Full Gene Analysis |
| ME2KM | MECP2 Gene, Known Mutation |
| MCADS | Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Mutation Screen |
| MCADK | Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency, Known Mutation |
| MEVP | Methemoglobinemia Evaluation |
| MMAAF | Methylmalonic Acid (MMA), Amniotic Fluid |
| MAHMS | Methylmalonic Aciduria and Homocystinuria, cblC Type, Full Gene Analysis |
| MAHKM | Methylmalonic Aciduria and Homocystinuria, cblC Type, Known Mutation |
| MHDMS | Methylmalonic Aciduria and Homocystinuria, cblD Type, Full Gene Analysis |
| MHDKM | Methylmalonic Aciduria and Homocystinuria, cblD Type, Known Mutation |
| FMDL | Miller-Dieker Syndrome, 17p13.3 Deletion, FISH |
| MLHBL | MLH1 Hypermethylation Analysis, Blood |
| MLHKM | MLH1 Known Mutation |
| MLHMS | MLH1 Mutation Screen |
| MLH12 | MLH1/MSH2 Mutation Screen |
| MCDMS | MLYCD Gene, Full Gene Analysis |
| MCDKM | MLYCD Gene, Known Mutation |
| MSH2K | MSH2 Known Mutation |
| MSH2M | MSH2 Mutation Screen |
| MSH6K | MSH6 Known Mutation |
| MSH6M | MSH6 Mutation Screen, Blood |
| MCIV | Mucolipidosis IV, Mutation Analysis, IVS3(-2)A->G and del6.4kb |
| MENKM | Multiple Endocrine Neoplasia Type 2 (2A, 2B, FMTC) Known Mutation |
| MENMS | Multiple Endocrine Neoplasia Type 2 (2A, 2B, FMTC) Mutation Screen |
| MYH | MYH Gene Analysis for Multiple Adenoma, Y165C and G382D |
| G6ST | N-Acetylgalactosamine-6-Sulfate Sulfatase, Fibroblasts |
| NAT2 | N-Acetyltransferase 2 Gene (NAT2), Full Gene Sequence |
| NAT2O | N-Acetyltransferase 2 Gene (NAT2), Full Gene Sequence, Saliva |
| NEURF | Neuraminidase, Fibroblasts |
| NAD | Newborn Aneuploidy Detection, FISH |
| NPDMS | Niemann-Pick Disease, Types A and B, Full Gene Analysis |
| NPDKM | Niemann-Pick Disease, Types A and B, Known Mutation |
| NPD | Niemann-Pick Disease, Types A and B, Mutation Analysis |
| NIEM | Niemann-Pick Type C Detection, Fibroblasts |
| NPCKM | Niemann-Pick Type C Disease, Known Mutation |
| NPCMS | Niemann-Pick Type C, Full Gene Analysis |
| OPRM1 | Opioid Receptor, Mu 1 (OPRM1) Genotype for Naltrexone Efficacy |
| OPRMO | Opioid Receptor, Mu 1 (OPRM1) Genotype for Naltrexone Efficacy, Saliva |
| PKU | Phenylalanine and Tyrosine, Plasma |
| PMMIF | Phosphomannomutase (PMM) and Phosphomannose Isomerase (PMI), Fibroblasts |
| PMMIL | Phosphomannomutase (PMM) and Phosphomannose Isomerase (PMI), Leukocytes |
| PIPA | Pipecolic Acid, Serum |
| PIPU | Pipecolic Acid, Urine |
| PMS2S | PMS2 Gene, Full Gene Analysis |
| PMS2K | PMS2 Gene, Known Mutation |
| GAAMS | Pompe Disease, Full Gene Sequencing |
| GAAKM | Pompe Disease, Known Mutation |
| PBGDW | Porphobilinogen Deaminase (PBGD), Washed Erythrocytes |
| PBGD_ | Porphobilinogen Deaminase (PBGD), Whole Blood |
| PBGU | Porphobilinogen, Quantitative, Random, Urine |
| PEWE | Porphyrins Evaluation, Washed Erythrocytes |
| PEE | Porphyrins Evaluation, Whole Blood |
| FQPPS | Porphyrins, Feces |
| PPOXS | PPOX Gene, Full Gene Analysis |
| PPOXK | PPOX Gene, Known Mutation |
| PWDNA | Prader-Willi/Angelman Syndrome, Molecular Analysis |
| PAD | Prenatal Aneuploidy Detection, FISH |
| GRNMS | Progranulin Gene (GRN), Full Gene Analysis |
| GRNKM | Progranulin Gene (GRN), Known Mutation |
| PHD2 | Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing |
| PTNT | Prothrombin G20210A Mutation, Blood |
| PPFWE | Protoporphyrins, Fractionation, Washed Erythrocytes |
| PPFE | Protoporphyrins, Fractionation, Whole Blood |
| PT1K | PTPN11 Gene, Known Mutation, Blood |
| PT11 | PTPN11, Full Gene Sequence, Blood |
| PTP22 | PTPN22 Genotype, 1858C->T |
| PUPY | Purine and Pyrimidine Panel, Urine |
| PDHC | Pyruvate Dehydrogenase Complex (PDHC), Fibroblasts |
| SEPTK | SEPT9 Gene, Known Mutation |
| SEPTS | SEPT9 Gene, Mutation Screen |
| HTR2 | Serotonin Receptor Genotype (HTR2A and HTR2C) |
| HTR2O | Serotonin Receptor Genotype (HTR2A and HTR2C), Saliva |
| HTT | Serotonin Transporter Genotype, Blood |
| HTTO | Serotonin Transporter Genotype, Saliva |
| FSRY | Sex-Determining Region Y, Yp11.3 Deletion, FISH |
| SCADK | Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency, Known Mutation |
| SCADM | Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency, Mutation Screen |
| SDEL | Single-Gene Large Deletion and Duplication Analysis |
| SLO | Smith-Lemli-Opitz Screen, Plasma |
| FSMS | Smith-Magenis/Potocki-Lupski Syndromes, 17p11.2 Deletion/Duplication, FISH |
| SPCID | Specimen Source Identification |
| SPHT | Sphingomyelinase, Fibroblasts |
| SBMA | Spinobulbar Muscular Atrophy (Kennedy's Disease), Molecular Analysis |
| FSTS | Steroid Sulfatase Deficiency, Xp22.3 Deletion, FISH |
| STER | Sterols, Plasma |
| FRTEL | Subtelomeric Region Anomalies, FISH |
| SDHSP | Succinate Dehydrogenase (SDH) Gene Analysis |
| SDHDD | Succinate Dehydrogenase (SDH) Gene, Deletion Detection |
| SDHKM | Succinate Dehydrogenase (SDH) Gene, Known Mutation |
| SDHSB | Succinate Dehydrogenase (SDH) Subunit B Gene Analysis |
| SDHSC | Succinate Dehydrogenase (SDH) Subunit C Gene Analysis |
| SDHSD | Succinate Dehydrogenase (SDH) Subunit D Gene Analysis |
| HEXMS | Tay-Sachs Disease, HEXA Gene, Full Gene Analysis |
| HEXKM | Tay-Sachs Disease, HEXA Gene, Known Mutation |
| TSD | Tay-Sachs Disease, Mutation Analysis, HEXA |
| TGFK1 | TGFBR1 Gene, Known Mutation |
| TGF1 | TGFBR1, Full Gene Sequence |
| TGFK2 | TGFBR2 Gene, Known Mutation |
| TGF2 | TGFBR2, Full Gene Sequence |
| THEVP | Thalassemia and Hemoglobinopathy Evaluation |
| TPMT | Thiopurine Methyltransferase (TPMT), Erythrocytes |
| THRMP | Thrombophilia Profile |
| TACIF | Transmembrane Activator and CAML Interactor (TACI) Gene, Full Gene Analysis |
| TACIG | Transmembrane Activator and CAML Interactor (TACI) Gene, Known Mutation Analysis |
| TPPTF | Tripeptidyl Peptidase 1 (TPP1) and Palmitoyl-Protein Thioesterase 1 (PPT1), Fibroblasts |
| TPPTL | Tripeptidyl Peptidase 1 (TPP1) and Palmitoyl-Protein Thioesterase 1 (PPT1), Leukocytes |
| UBEMS | UBE3A Gene, Full Gene Analysis |
| UBEKM | UBE3A Gene, Known Mutation |
| UGTK | UDP-Glucuronosyl Transferase 1A1 (UGT1A1) Gene, Known Mutation |
| UGTKO | UDP-Glucuronosyl Transferase 1A1 (UGT1A1) Gene, Known Mutation, Saliva |
| UGT2 | UDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing, Hyperbilirubinemia |
| UGT2O | UDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing, Hyperbilirubinemia, Saliva |
| UGTI | UDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing, Irinotecan Hypersensitivity |
| UGTIO | UDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing, Irinotecan Hypersensitivity, Saliva |
| U1A1 | UDP-Glucuronosyl Transferase 1A1 TA Repeat Genotype, UGT1A1 |
| U1A1O | UDP-Glucuronosyl Transferase 1A1 TA Repeat Genotype, UGT1A1, Saliva |
| UPD | Uniparental Disomy |
| UPGDW | Uroporphyrinogen Decarboxylase (UPG D), Washed Erythrocytes |
| UPGD | Uroporphyrinogen Decarboxylase (UPG D), Whole Blood |
| UPGC | Uroporphyrinogen III Synthase (Co-Synthase) (UPG III S), Erythrocytes |
| VLCMS | Very Long Chain Acyl-CoA Dehydrogenase Deficiency, Full Gene Analysis |
| VLCKM | Very Long Chain Acyl-CoA Dehydrogenase Deficiency, Known Mutation |
| VHLD | Von Hippel-Lindau (VHL) Deletion Detection |
| VHLSP | Von Hippel-Lindau (VHL) Gene, Full Gene Analysis |
| VHLKP | Von Hippel-Lindau (VHL) Gene, Known Mutation |
| VWD2N | von Willebrand Disease 2N (Subtype Normandy), Blood |
| WARFP | Warfarin Sensitivity Genotype by Sequence Analysis, Blood |
| WARFO | Warfarin Sensitivity Genotype by Sequence Analysis, Saliva |
| WSCR | Williams Syndrome, 7q11.23 Deletion, FISH |
| WDKM | Wilson Disease Known Mutation, ATP7B DNA Sequencing |
| WDMS | Wilson Disease Mutation Screen, ATP7B DNA Sequencing |
| FWHS | Wolf-Hirschhorn Syndrome, 4p16.3 Deletion, FISH |
| FBUCC | X and Y Aneuploidy Detection, Buccal Smear, FISH |
| FXIST | X-Inactivation (XIST), Xq13.2 Deletion, FISH |
| XAN | Xanthine and Hypoxanthine, Urine |
| YMICR | Y Chromosome Microdeletions, Molecular Detection |
| ZYG | Zygosity Testing (Multiple Births) |
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