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 |
|---|---|
| BPGMM | 2,3-Bisphosphoglycerate Mutase, Full Gene Sequencing Analysis, Varies |
| 2OHGP | 2-Hydroxyglutaric Aciduria Gene Panel, Varies |
| CYPZ | 21-Hydroxylase Gene, CYP21A2, Full Gene Analysis, Varies |
| DD22F | 22q11.2 Deletion/Duplication, FISH, Varies |
| 3MGAP | 3-Methylglutaconic Aciduria Panel, Varies |
| GAAWR | Acid Alpha-Glucosidase Reflex, Leukocytes |
| GAAW | Acid Alpha-Glucosidase, Leukocytes |
| ASMW | Acid Sphingomyelinase, Leukocytes |
| APGP | Acute Porphyria Gene Panel, Varies |
| ALAGP | Alagille Syndrome Gene Panel, Varies |
| WAGDR | Alpha Globin Cluster Locus Deletion/Duplication, Blood |
| AGDD | Alpha Globin Cluster Locus Deletion/Duplication, Varies |
| WASEQ | Alpha Globin Gene Sequencing, Varies |
| FUCW | Alpha-Fucosidase, Leukocytes |
| AGAW | Alpha-Galactosidase, Leukocytes |
| AGAS | Alpha-Galactosidase, Serum |
| WASQR | Alpha-Globin Gene Sequencing, Blood |
| IDUAW | Alpha-L-Iduronidase, Leukocytes |
| MANN | Alpha-Mannosidase, Leukocytes |
| ALPGP | Alport Syndrome Gene Panel, Varies |
| AIHL | Aminoglycoside-Induced Hearing Loss, Targeted Variant Testing, Droplet Digital PCR, Varies |
| ALADW | Aminolevulinic Acid Dehydratase, Washed Erythrocytes |
| ALAD | Aminolevulinic Acid Dehydratase, Whole Blood |
| AECDP | Angioedema and Complement Disorders Gene Panel, Varies |
| GNANT | Antithrombin Deficiency, SERPINC1 Gene, Next-Generation Sequencing, Varies |
| APOL1 | APOL1 Genotype, Varies |
| APOEG | Apolipoprotein E Genotyping, Blood |
| ARVGG | Arrhythmogenic Cardiomyopathy Gene Panel, Varies |
| ARSU | Arylsulfatase A, 24 Hour, Urine |
| ARSAW | Arylsulfatase A, Leukocytes |
| ARSBB | Arylsulfatase B, Blood Spot |
| ARSBW | Arylsulfatase B, Leukocytes |
| AHUGP | Atypical Hemolytic Uremic Syndrome (aHUS)/Thrombotic Microangiopathy (TMA) /Complement 3 Glomerulopathy (C3G) Gene Panel, Varies |
| AHLP | AudioloGene Hearing Loss Panel, Varies |
| ALPSG | Autoimmune Lymphoproliferative Syndrome (ALPS) Gene Panel, Varies |
| AUTOG | Autoinflammatory Disorders Gene Panel, Varies |
| BCELL | B-Cell and Antibody Deficiency Gene Panel, Varies |
| BAP1Z | BAP1-Tumor Predisposition Syndrome, BAP1 Full Gene Analysis, Varies |
| RBART | Bartter Syndrome Gene Panel, Varies |
| BWRS | Beckwith-Wiedemann Syndrome/Russell-Silver Syndrome, Molecular Analysis, Varies |
| WBSEQ | Beta Globin Gene Sequencing, Varies |
| BGA | Beta-Galactosidase, Leukocytes |
| WBGDR | Beta-Globin Gene Cluster Deletion/Duplication, Blood |
| WBGDD | Beta-Globin Gene Cluster, Deletion/Duplication, Varies |
| WBSQR | Beta-Globin Gene Sequencing, Blood |
| GBAW | Beta-Glucosidase, Leukocytes |
| GUSBB | Beta-Glucuronidase, Blood Spot |
| GUSBW | Beta-Glucuronidase, Leukocytes |
| BTD | Biotinidase Deficiency, BTD Gene Sequencing with Deletion/Duplication, Varies |
| BIOTS | Biotinidase, Serum |
| BHDZ | Birt-Hogg-Dube Syndrome, FLCN, Full Gene Analysis, Varies |
| GNBLC | Bleeding Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies |
| GNBLF | Bleeding Disorders, Focused Gene Panel, Next-Generation Sequencing, Varies |
| HBOCZ | BRCA1/BRCA2 Genes, Full Gene Analysis, Varies |
| SCN5A | Brugada Syndrome, SCN5A Full Gene Analysis, Varies |
| BTKSG | Bruton Tyrosine Kinase, BTK Full Gene Analysis, Varies |
| C9ORF | C9orf72 Hexanucleotide Repeat, Molecular Analysis, Varies |
| CARBR | Carbamazepine Hypersensitivity Pharmacogenomics, Varies |
| CSFP | Carrier Screen, Focused Panel, Varies |
| CASRG | CASR Full Gene Sequencing with Deletion/Duplication, Varies |
| COMTQ | Catechol-O-Methyltransferase (COMT) Genotype, Varies |
| CPVTG | Catecholaminergic Polymorphic Ventricular Tachycardia Gene Panel, Varies |
| CDKZ | CDKN1C Gene, Full Gene Analysis, Varies |
| CHLGP | Cholestasis Gene Panel, Varies |
| CMAPC | Chromosomal Microarray, Autopsy, Products of Conception, or Stillbirth |
| CMAMT | Chromosomal Microarray, Autopsy/Products of Conception/Stillbirth, Tissue |
| CMACB | Chromosomal Microarray, Congenital, Blood |
| CHRCB | Chromosome Analysis, Congenital Disorders, Blood |
| CHRTI | Chromosome Analysis, Skin Biopsy |
| COMID | Combined Humoral and Cell-Mediated Immunodeficiency Gene Panel, Varies |
| CMITO | Combined Mitochondrial Full Genome and Nuclear Gene Panel, Varies |
| CACMG | Comprehensive Arrhythmia and Cardiomyopathy Gene Panel, Varies |
| CARGG | Comprehensive Arrhythmia Gene Panel, Varies |
| CCMGG | Comprehensive Cardiomyopathy Gene Panel, Varies |
| CVHBG | Comprehensive Cerebrovascular Gene Panel, Varies |
| DWPAN | Comprehensive Distal Weakness Gene Panel, Varies |
| EPPAN | Comprehensive Epilepsy With or Without Encephalopathy Gene Panel, Varies |
| CAORG | Comprehensive Marfan, Loeys-Dietz, Ehlers-Danlos, and Aortopathy Gene Panel, Varies |
| NEPHP | Comprehensive Nephrology Gene Panel, Varies |
| MUPAN | Comprehensive Neuromuscular Gene Panel, Varies |
| PEPAN | Comprehensive Peripheral Neuropathy Gene Panel, Varies |
| CDGGP | Congenital Disorders of Glycosylation Gene Panel, Varies |
| NCDA | Congenital Dyserythropoietic Anemia Gene Panel, Next-Generation Sequencing, Varies |
| GNFIB | Congenital Fibrinogen Disorders, FGA, FGB, and FGG Genes, Next-Generation Sequencing, Varies |
| CHDGG | Congenital Heart Disease Gene Panel, Varies |
| CLADP | Congenital Lactic Acidosis Panel, Varies |
| CSTB | CSTB Gene, Repeat Expansion Analysis, Varies |
| CGPH | Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies |
| CFSMN | Cystic Fibrosis and Spinal Muscular Atrophy Carrier Screen Panel, Varies |
| CFTRN | Cystic Fibrosis Transmembrane Conductance Regulator, CFTR, Full Gene Analysis, Varies |
| CFMP | Cystic Fibrosis, CFTR Gene, Variant Panel, Varies |
| CKDGP | Cystic Kidney Disease Gene Panel, Varies |
| CYSGP | Cystinuria Gene Panel, Varies |
| 1A2Q | Cytochrome P450 1A2 Genotype, Varies |
| 2B6Q | Cytochrome P450 2B6 Genotype, Varies |
| 2C19R | Cytochrome P450 2C19 Genotype, Varies |
| 2C9QT | Cytochrome P450 2C9 Genotype, Varies |
| 2D6Q | Cytochrome P450 2D6 Comprehensive Cascade, Varies |
| 3A4Q | Cytochrome P450 3A4 Genotype, Varies |
| 3A5Q | Cytochrome P450 3A5 Genotype, Varies |
| DRPL | Dentatorubral-Pallidoluysian Atrophy (DRPLA) Gene Analysis, Varies |
| DPYDQ | Dihydropyrimidine Dehydrogenase Genotype, Varies |
| DPYDZ | Dihydropyrimidine Dehydrogenase, DPYD Full Gene Sequencing, Varies |
| DCLNG | Dilated Cardiomyopathy and Left Ventricular Noncompaction Cardiomyopathy Gene Panel, Varies |
| DMDZ | DMD Gene, Full Gene Analysis, Varies |
| DBMD | Duchenne/Becker Muscular Dystrophy, DMD Gene, Large Deletion/Duplication Analysis, Varies |
| EOIBD | Early Onset Monogenic Inflammatory Bowel Disease (IBD) Gene Panel, Varies |
| EDSGG | Ehlers-Danlos Syndrome Gene Panel, Varies |
| EBLPD | Epstein Barr Virus (EBV) Susceptibility and Lymphoproliferative Disorders Gene Panel, Varies |
| REVE2 | Erythrocytosis Evaluation, Blood |
| EPOR | Erythropoietin Receptor (EPOR) Gene, Exon 8 Sequencing, Whole Blood |
| PANGP | Expanded Pancreatitis Gene Panel, Varies |
| GLA | Fabry Disease, GLA Gene Sequencing with Deletion/Duplication, Varies |
| F5DNA | Factor V Leiden (R506Q) Mutation, Blood |
| GNF7 | Factor VII Deficiency, F7 Gene, Next-Generation Sequencing, Varies |
| GNF13 | Factor XIII Deficiency, F13A1 and F13B Genes, Next-Generation Sequencing, Varies |
| FMTT | Familial Variant, Targeted Testing, Varies |
| CMPRE | Family Member Comparator Specimen for Exome Sequencing, Varies |
| CMPRG | Family Member Comparator Specimen for Genome Sequencing, Varies |
| HFAOP | Fatty Acid Oxidation Gene Panel, Varies |
| FAO | Fatty Acid Oxidation Probe Assay, Fibroblast Culture |
| MFBNG | FBN1 Full Gene Sequencing with Deletion/Duplication, Varies |
| RFSGS | Focal Segmental Glomerulosclerosis (FSGS) and Nephrotic Syndrome Gene Panel, Varies |
| ADPKP | Focused Autosomal Dominant Polycystic Kidney Disease Gene Panel, Varies |
| PGXQP | Focused Pharmacogenomics Panel, Varies |
| FXS | Fragile X Syndrome, Molecular Analysis, Varies |
| FFRWB | Friedreich Ataxia, Frataxin, Quantitative, Blood |
| FFRBS | Friedreich Ataxia, Frataxin, Quantitative, Blood Spot |
| AFXN | Friedreich Ataxia, Repeat Expansion Analysis, Varies |
| GALCR | Galactocerebrosidase Reflex, Leukocytes |
| GALCW | Galactocerebrosidase, Leukocytes |
| GALK | Galactokinase, Blood |
| GALTP | Galactose-1-Phosphate Uridyltransferase Biochemical Phenotyping, Erythrocytes |
| GALT | Galactose-1-Phosphate Uridyltransferase, Blood |
| GCT | Galactosemia Reflex, Blood |
| GALZ | Galactosemia, GALT Gene, Full Gene Analysis, Varies |
| GALMP | Galactosemia, GALT Gene, Variant Panel, Varies |
| WGSEQ | Gamma-Globin Full Gene Sequencing, Varies |
| GATAS | GATA-Binding Protein 2, GATA2, Full Gene Analysis, Next-Generation Sequencing, Varies |
| GBA | Gaucher Disease, GBA1 Gene Sequencing with Deletion/Duplication, Varies |
| G6PDZ | Glucose-6-Phosphate Dehydrogenase (G6PD) Full Gene Sequencing, Varies |
| GA2P | Glutaric Aciduria Type II Gene Panel, Varies |
| GSDGP | Glycogen Storage Disease Gene Panel, Varies |
| HMEP | Hemiplegic Migraine With or Without Epilepsy Gene Panel, Varies |
| HBEL1 | Hemoglobin Electrophoresis Evaluation, Blood |
| HAEV1 | Hemolytic Anemia Evaluation, Blood |
| F8INP | Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Prenatal |
| F8INV | Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Whole Blood |
| F81P | Hemophilia A F8 Gene, Intron 1 Inversion Known Mutation Analysis, Prenatal |
| F81B | Hemophilia A F8 Gene, Intron 1 Inversion Known Mutation, Whole Blood |
| F822B | Hemophilia A F8 Gene, Intron 22 Inversion Known Mutation, Whole Blood |
| F822P | Hemophilia A F8 Gene, Intron 22 Inversion Mutation Analysis, Prenatal |
| GNHMA | Hemophilia A, F8 Gene, Next-Generation Sequencing, Varies |
| GNHMB | Hemophilia B, F9 Gene, Next-Generation Sequencing, Varies |
| GNF11 | Hemophilia C (Factor XI Deficiency), F11 Gene, Next-Generation Sequencing, Varies |
| GNANG | Hereditary Angioedema Focused Gene Panel, Next-Generation Sequencing, Varies |
| BRGYP | Hereditary Breast/Gynecologic Cancer Panel, Varies |
| COMCP | Hereditary Common Cancer Panel, Varies |
| CDHZ | Hereditary Diffuse Gastric Cancer Syndrome, CDH1, Full Gene Analysis, Varies |
| ENDCP | Hereditary Endocrine Cancer Panel, Varies |
| NHEM | Hereditary Erythrocytosis Focused Gene Panel, Next-Generation Sequencing, Varies |
| NHEP | Hereditary Erythrocytosis Gene Panel, Next-Generation Sequencing, Varies |
| HEMP | Hereditary Erythrocytosis Mutations, Whole Blood |
| XCP | Hereditary Expanded Cancer Panel, Varies |
| CRCGP | Hereditary Gastrointestinal Cancer Panel, Varies |
| HFET | Hereditary Hemochromatosis, HFE Variant Analysis, Varies |
| NHHA | Hereditary Hemolytic Anemia Gene Panel, Next-Generation Sequencing, Varies |
| HHTGG | Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Gene Panel, Varies |
| LRCCZ | Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome, FH, Full Gene Analysis, Varies |
| PANCP | Hereditary Pancreatic Cancer Panel, Varies |
| HPANP | Hereditary Pancreatitis Gene Panel, Varies |
| HPGLP | Hereditary Paraganglioma/Pheochromocytoma Panel, Varies |
| PRS8P | Hereditary Prostate Cancer Panel, Varies |
| RENCP | Hereditary Renal Cancer Panel, Varies |
| GNHTC | Hereditary Thrombocytopenia Gene Panel, Next-Generation Sequencing, Varies |
| GNADM | Hereditary Thrombotic Thrombocytopenic Purpura, ADAMTS13 Gene, Next-Generation Sequencing, Varies |
| THYRP | Hereditary Thyroid Cancer Panel, Varies |
| WILMP | Hereditary Wilms Tumor Panel, Varies |
| NAGR | Hexosaminidase A and Total, Leukocytes/Molecular Reflex, Whole Blood |
| MUGS | Hexosaminidase A, Serum |
| HL57R | HLA-B*57:01 Genotype, Pharmacogenomics, Varies |
| HL58R | HLA-B*5801 Genotype, Allopurinol Hypersensitivity, Varies |
| HAD | Huntington Disease, Molecular Analysis, Varies |
| HIESG | Hyper-IgE Syndrome Gene Panel, Varies |
| HCHLG | Hypercholesterolemia Gene Panel, Varies |
| HYPTG | Hypertriglyceridemia Gene Panel, Varies |
| HCMGG | Hypertrophic Cardiomyopathy Gene Panel, Varies |
| HYPBG | Hypobetalipoproteinemia Gene Panel, Varies |
| HIF2A | Hypoxia-Inducible Factor Alpha (EPAS1/HIF2A) Gene, Exons 9 and 12 Sequencing, Whole Blood |
| IPFGP | Idiopathic Pulmonary Fibrosis Gene Panel, Varies |
| I2SB | Iduronate-2-Sulfatase, Blood Spot |
| I2SWB | Iduronate-2-Sulfatase, Leukocytes |
| IEICP | Inborn Errors of Immunity Comprehensive Gene Panel, Varies |
| IMMAU | Inborn Errors of Immunity with Immune Dysregulation and Autoimmunity Gene Panel, Varies |
| INFXP | Infliximab Quantitation with Antibodies to Infliximab, Serum |
| ATAXP | Inherited Ataxia Gene Panel, Varies |
| BMFGP | Inherited Bone Marrow Failure Gene Panel, Varies |
| CMSP | Inherited Congenital Myasthenic Syndrome Gene Panel, Varies |
| EDMDP | Inherited Emery-Dreifuss Gene Panel, Varies |
| AFTDP | Inherited Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Gene Panel, Varies |
| LGCMP | Inherited Limb-Girdle Muscular Dystrophy and Congenital Myasthenic Syndrome Gene Panel, Varies |
| IMSNP | Inherited Motor and Sensory Neuropathy Gene Panel, Varies |
| MNDP | Inherited Motor Neuron Disease Gene Panel, Varies |
| IMNP | Inherited Motor Neuropathy Gene Panel, Varies |
| MDYSP | Inherited Muscular Dystrophy Gene Panel, Varies |
| PARDP | Inherited Parkinson Disease Gene Panel, Varies |
| RABMP | Inherited Rhabdomyolysis and Metabolic Myopathy Panel, Varies |
| ISNP | Inherited Sensory Neuropathy Gene Panel, Varies |
| SMCP | Inherited Skeletal Muscle Channelopathy Gene Panel, Varies |
| ISPP | Inherited Spastic Paraplegia Gene Panel, Varies |
| IL28Q | Interleukin 28B (IL28B) Variant (rs12979860), Varies |
| KETGP | Ketone Disorders Gene Panel, Varies |
| XYMF | Known 45,X, Mosaicism Reflex Analysis, FISH, Whole Blood |
| GALC | Krabbe Disease, GALC Gene Sequencing with Deletion/Duplication, Varies |
| LIPOG | Lipodystrophy Gene Panel, Varies |
| LQTSG | Long QT Syndrome Gene Panel, Varies |
| LYNCP | Lynch Syndrome Panel, Varies |
| LALB | Lysosomal Acid Lipase, Blood |
| LALBS | Lysosomal Acid Lipase, Blood Spot |
| PLSD | Lysosomal and Peroxisomal Disorders Screen, Blood Spot |
| LSD6W | Lysosomal Disorders, Six-Enzyme Panel, Leukocytes |
| LSDGP | Lysosomal Storage Disease Gene Panel, Varies |
| GNMTC | Macro/Microthrombocytopenia Gene Panel, Next-Generation Sequencing, Varies |
| MSUDP | Maple Syrup Urine Disease Gene Panel, Varies |
| MFRGG | Marfan, Loeys-Dietz, and Aortopathy Gene Panel, Varies |
| MCP2Z | MECP2 Gene, Full Gene Analysis, Varies |
| ACADM | Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD), ACADM Gene Sequencing with Deletion/Duplication, Varies |
| MEV1 | Methemoglobinemia Evaluation, Blood |
| MMAGP | Methylmalonic Aciduria Gene Panel, Varies |
| MPAGP | Methylmalonic Aciduria-Propionic Aciduria Combined Gene Panel, Varies |
| DMITO | Mitochondrial DNA Deletion Heteroplasmy, ddPCR, Varies |
| MITOP | Mitochondrial Full Genome Analysis, Next-Generation Sequencing (NGS), Varies |
| MLHPB | MLH1 Hypermethylation Analysis, Blood |
| MP8BS | Mucopolysaccharidoses, Eight-Enzyme Panel, Blood Spot |
| MP9W | Mucopolysaccharidoses, Nine-Enzyme Panel, Leukocytes |
| MPS3W | Mucopolysaccharidosis III, Four-Enzyme Panel, Leukocytes |
| MPS3B | Mucopolysaccharidosis III, Three-Enzyme Panel, Blood Spot |
| MPS4B | Mucopolysaccharidosis IV Enzyme Panel, Blood Spot |
| MPS4W | Mucopolysaccharidosis IV Enzyme Panel, Leukocytes |
| IDUA | Mucopolysaccharidosis Type I, IDUA Gene Sequencing with Deletion/Duplication, Varies |
| IDS | Mucopolysaccharidosis Type II, IDS Gene Sequencing with Deletion/Duplication, Varies |
| RETZZ | Multiple Endocrine Neoplasia Type 2 Syndrome, RET, Full Gene Analysis, Varies |
| MSDBS | Multiple Sulfatase Deficiency, Blood Spot |
| MSDW | Multiple Sulfatase Deficiency, Leukocytes |
| GNMY9 | MYH9-Related Disorders, MYH9 Gene, Next-Generation Sequencing, Varies |
| NAT2Q | N-Acetyltransferase 2 (NAT2) Genotype, Varies |
| RSCGP | Nephrocalcinosis, Nephrolithiasis, and Renal Electrolyte Imbalance Gene Panel, Varies |
| NF1Z | Neurofibromatosis Type 1, NF1, Full Gene Analysis, Varies |
| NCLGP | Neuronal Ceroid Lipofuscinosis (Batten Disease) Gene Panel, Varies |
| NCLBS | Neuronal Ceroid Lipofuscinosis, Two-Enzyme Panel, Blood Spot |
| NCLW | Neuronal Ceroid Lipofuscinosis, Two-Enzyme Panel, Leukocytes |
| NADF | Newborn Aneuploidy Detection, FISH, Blood |
| NSRGG | Noonan Syndrome and Related Conditions Gene Panel, Varies |
| NTC3Z | NOTCH3 Gene, Full Gene Analysis, Varies |
| NMITO | Nuclear Mitochondrial Gene Panel, Next-Generation Sequencing, Varies |
| OIBFG | Osteogenesis Imperfecta and Bone Fragility Gene Panel, Varies |
| WESPR | Panel to Whole Exome Sequencing Reflex Test, Varies |
| PDGP | Peroxisomal Disorder Gene Panel, Varies |
| STK1Z | Peutz-Jeghers Syndrome, STK11, Full Gene Analysis, Varies |
| PHCGD | Phagocytic Disorders and Chronic Granulomatous Disease Gene Panel, Varies |
| PHEGP | Phenylalanine Disorders Gene Panel, Varies |
| PMMIL | Phosphomannomutase and Phosphomannose Isomerase, Leukocytes |
| PKLRZ | PKLR Full Gene Analysis, Varies |
| GNPLT | Platelet Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies |
| GNPFD | Platelet Function Defect Gene Panel, Next-Generation Sequencing, Varies |
| GNSPD | Platelet Storage Pool Deficiency Gene Panel, Next-Generation Sequencing, Varies |
| PMPDD | PMP22 Gene, Large Deletion/Duplication Analysis, Varies |
| PD2T | Pompe Disease Second-Tier Newborn Screening, Blood Spot |
| PDBS | Pompe Disease, Blood Spot |
| GAAN | Pompe Disease, GAA Gene Sequencing with Deletion/Duplication, Varies |
| PBGDW | Porphobilinogen Deaminase, Washed Erythrocytes |
| PBGD_ | Porphobilinogen Deaminase, Whole Blood |
| PCGP | Porphyria Comprehensive Gene Panel, Varies |
| PMAOG | Postmortem Aortopathy Gene Panel, Tissue |
| PMARG | Postmortem Arrhythmia Gene Panel, Tissue |
| PMCAG | Postmortem Cardiomyopathy and Arrhythmia Gene Panel, Tissue |
| PMCMG | Postmortem Cardiomyopathy Gene Panel, Tissue |
| PCMSP | Postmortem Inherited Congenital Myasthenia Syndrome Gene Panel, Tissue |
| PMHLH | Postmortem Primary Hemophagocytic Lymphohistiocytosis (HLH) Gene Panel, Tissue |
| PWAS | Prader-Willi/Angelman Syndrome, Molecular Analysis, Varies |
| PCDGG | Primary Ciliary Dyskinesia Gene Panel, Varies |
| HLHGP | Primary Hemophagocytic Lymphohistiocytosis Gene Panel, Varies |
| PRKSG | PRKAR1A Full Gene Sequencing with Deletion/Duplication, Varies |
| PHD2 | Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing, Whole Blood |
| FIBDD | PROMETHEUS IBD sgi Diagnostic |
| GNPRC | Protein C Deficiency, PROC Gene, Next-Generation Sequencing, Varies |
| GNPRS | Protein S Deficiency, PROS1 Gene, Next-Generation Sequencing, Varies |
| PTNT | Prothrombin G20210A Mutation, Blood |
| PRSSZ | PRSS1 Gene, Full Gene Analysis, Varies |
| PSYQP | Psychotropic Pharmacogenomics Gene Panel, Varies |
| PTNZ | PTEN Hamartoma Tumor Syndrome, PTEN Full Gene Analysis, Varies |
| BRTP | Rapid Hereditary Breast Cancer Treatment Decision Panel, Varies |
| NCYB | Recessive Congenital Methemoglobinemia, CYB5 and CYB5 Reductase Genetic Analysis, Next-Generation Sequencing, Varies |
| NENZ | Red Blood Cell Enzyme Disorders Gene Panel, Next-Generation Sequencing, Varies |
| NMEM | Red Blood Cell Membrane Disorders Gene Panel, Next-Generation Sequencing, Varies |
| HEXBZ | Sandhoff Disease, HEXB Gene, Full Gene Analysis, Varies |
| SEP9Z | SEPTIN9 Gene, Full Gene Analysis, Varies |
| SERPZ | SERPINA1 Gene, Full Gene Analysis, Varies |
| SCIDP | Severe Combined Immunodeficiency (SCID) Gene Panel, Varies |
| SCCNP | Severe Congenital and Cyclic Neutropenia Gene Panel, Varies |
| SCTF | Sex Chromosome Determination, FISH, Tissue |
| SRYF | Sex-Determining Region Y, Yp11.3 Deletion, FISH |
| SQTSG | Short QT Syndrome Gene Panel, Varies |
| DHCRZ | Smith Lemli Opitz Syndrome, DHCR7 Gene, Full Gene Analysis, Varies |
| SMN1Z | SMN1 Gene, Full Gene Analysis, Varies |
| SOD1Z | SOD1 Gene, Full Gene Analysis, Varies |
| SLC1Q | Solute Carrier Organic Anion Transporter Family Member 1B1 (SLCO1B1) Genotype, Statin, Varies |
| SMNCS | Spinal Muscular Atrophy Carrier Screening, Deletion/Duplication Analysis, Varies |
| SMNDX | Spinal Muscular Atrophy Diagnostic Assay, Deletion/Duplication Analysis, Varies |
| SBULB | Spinobulbar Muscular Atrophy (Kennedy Disease), Molecular Analysis, Varies |
| SCAP | Spinocerebellar Ataxia Repeat Expansion Panel, Varies |
| SCARA | Spinocerebellar Ataxia Type 1, 2, 3, 6, or 7, Repeat Expansion Analysis, Varies |
| HEXAN | Tay-Sachs Disease, HEXA Gene Sequencing with Deletion/Duplication, Varies |
| TELDP | Telomere Biology Disorders Gene Panel, Varies |
| THEV1 | Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum |
| TPNUQ | Thiopurine Methyltransferase (TPMT) and Nudix Hydrolase (NUDT15) Genotyping, Varies |
| TPMT3 | Thiopurine Methyltransferase Activity Profile, Erythrocytes |
| AATHR | Thrombophilia Profile, Plasma and Whole Blood |
| GNTHR | Thrombosis Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies |
| TTRZ | TTR Gene, Full Gene Analysis, Varies |
| TSCP | Tuberous Sclerosis Gene Panel, Varies |
| TYRGP | Tyrosine Disorders Gene Panel, Varies |
| UGTFZ | UDP-Glucuronosyltransferase 1A1 (UGT1A1), Full Gene Sequencing, Varies |
| UNIPD | Uniparental Disomy, Varies |
| UCDP | Urea Cycle Disorders Gene Panel, Varies |
| U1A1Q | Uridine Diphosphate (UDP) Glucuronosyltransferase 1A1 TA Repeat Genotype, UGT1A1, Varies |
| GALE | Uridine Diphosphate-Galactose 4' Epimerase, Blood |
| UPGDW | Uroporphyrinogen Decarboxylase, Washed Erythrocytes |
| UPGD | Uroporphyrinogen Decarboxylase, Whole Blood |
| UPGC | Uroporphyrinogen III Synthase (Co-Synthase), Erythrocytes |
| ACADV | Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, ACADVL Gene Sequencing with Deletion/Duplication, Varies |
| VHLE | VHL Gene, Erythrocytosis, Mutation Analysis, Varies |
| VIRID | Viral Susceptibility, Defects in Intrinsic and Innate Immunity, Gene Panel, Varies |
| VHLZZ | Von Hippel Lindau Syndrome, VHL, Full Gene Analysis, Varies |
| GNVWD | von Willebrand Disease, VWF and GP1BA Genes, Next-Generation Sequencing, Varies |
| WARSQ | Warfarin Response Genotype, Varies |
| WESMT | Whole Exome and Mitochondrial Genome Sequencing, Varies |
| WESDX | Whole Exome Sequencing for Hereditary Disorders, Varies |
| WGSDX | Whole Genome Sequencing for Hereditary Disorders, Varies |
| WNDZ | Wilson Disease, ATP7B Full Gene Sequencing with Deletion/Duplication, Varies |
| ABCD1 | X-Linked Adrenoleukodystrophy (XALD), ABCD1 Gene Sequencing with Deletion/Duplication, Varies |
| YMCRO | Y Chromosome Microdeletions, Molecular Detection, Varies |
| MULT | Zygosity Testing (Multiple Births), Varies |