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Test Catalog
MFRGG - Overview: Marfan, Loeys-Dietz, and Aortopathy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Marfan syndrome and related conditions Establishing a diagnosis for Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome,...
LYNCP - Overview: Lynch Syndrome Panel, Varies
Establishing a diagnosis of Lynch syndrome or constitutional mismatch repair deficiency allowing for targeted cancer surveillance based on associated risks Identifying MLH1, MSH2, MSH6, PMS2, or EPCAM variants to allow for predictive...
MCLNM - Overview: MayoComplete Lung Cancer Mutations, Next-Generation Sequencing, Tumor
Diagnosis and management of patients with lung cancer Assessing microsatellite instability
BRGYP - Overview: Hereditary Breast/Gynecologic Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary breast or gynecological cancer syndrome Establishing a diagnosis of a hereditary breast or gynecological cancer syndrome allowing for targeted cancer...
MNDP - Overview: Inherited Motor Neuron Disease Gene Panel, Varies
Establishing a molecular diagnosis for patients with motor neuron disease Identifying variants within genes known to be associated with motor neuron disease, allowing for predictive testing of at-risk family members
PRS8P - Overview: Hereditary Prostate Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary prostate cancer syndrome Establishing a diagnosis of a hereditary prostate cancer syndrome allowing for targeted cancer surveillance based on associated...
RENCP - Overview: Hereditary Renal Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary renal cancer syndrome Establishing a diagnosis of a hereditary renal cancer syndrome allowing for targeted cancer surveillance based on associated risks...
HPANP - Overview: Hereditary Pancreatitis Gene Panel, Varies
Confirming a suspected clinical diagnosis of familial or hereditary pancreatitis in patients with chronic pancreatitis Identifying gene variants contributing to pancreatitis in an individual or family Identifying gene variants to allow...
PANCP - Overview: Hereditary Pancreatic Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary pancreatic cancer syndrome Establishing a diagnosis of a hereditary pancreatic cancer syndrome, allowing for targeted cancer surveillance based on associated...
IMNP - Overview: Inherited Motor Neuropathy Gene Panel, Varies
Establishing a molecular diagnosis for patients with distal hereditary motor neuropathy (dHMN) Identifying variants within genes known to be associated with dHMN, allowing for predictive testing of at-risk family members
HMEP - Overview: Hemiplegic Migraine With or Without Epilepsy Gene Panel, Varies
Establishing a molecular diagnosis in individuals with hemiplegic migraine Identifying disease-causing variants within genes known to be associated with hemiplegic migraine, allowing for predictive testing of at-risk family members
THYRP - Overview: Hereditary Thyroid Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary thyroid cancer syndrome Establishing a diagnosis of a hereditary thyroid cancer syndrome, allowing for targeted surveillance based on associated...
PGXQP - Overview: Focused Pharmacogenomics Panel, Varies
Preemptive or reactive genotyping of patients for pharmacogenomic purposes Providing an assessment for genes with strong drug-gene associations
GA2P - Overview: Glutaric Aciduria Type II Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of glutaric acidemia type II Establishing a molecular diagnosis for patients with glutaric acidemia type II Identifying variants within genes known to be associated with glutaric...
Comprehensive evaluation of the GATA2 gene in patients with clinical or immunological symptoms suggestive of GATA-binding protein 2 (GATA2) deficiency Screening family members of patients with confirmed GATA2 deficiency
H2BR - Overview: HER2 Amplification Associated with Breast Cancer, FISH, Tissue
A predictive marker for patients with both node-positive or node-negative primary and metastatic breast cancer Patients with HER2 amplification that may be candidates for therapies targeting the human epidermal growth factor receptor 2...
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of nephrocalcinosis, nephrolithiasis, or renal electrolyte imbalance Establishing a diagnosis for a variety of hereditary...
MCSTP - Overview: MayoComplete Solid Tumor Panel, Next-Generation Sequencing, Tumor
Assisting in tumor profiling for diagnosis, predicting prognosis, and identifying targeted therapies for the treatment and management of patients with solid tumors Identifying somatic alterations including single nucleotide variants, small...
NCLGP - Overview: Neuronal Ceroid Lipofuscinosis (Batten Disease) Gene Panel, Varies
Follow up for abnormal biochemical or electron microscopy results suspicious for neuronal ceroid lipofuscinoses (NCL) Establishing a molecular diagnosis for patients with NCL Identifying variations within genes known to be associated with...
NONCP - Overview: Neuro-Oncology Expanded Gene Panel with Rearrangement, Tumor
Identifying mutations and rearrangements that may support a diagnosis or help determine prognosis for patients with CNS tumors Identifying specific mutations and rearrangements within genes known to be associated with response or...
MCP2Z - Overview: MECP2 Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis in individuals with features of Rett syndrome and MECP2-related disorders Identifying pathogenic variants within the MECP2 gene known to be associated with Rett syndrome and MECP2-related disorders,...
RETZZ - Overview: Multiple Endocrine Neoplasia Type 2 Syndrome, RET, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of a multiple endocrine neoplasia type 2 (MEN2) or Hirschsprung disease (HSCR) Establishing a diagnosis of MEN2 or HSCR allowing for targeted cancer surveillance based on...
PMCAG - Overview: Postmortem Cardiomyopathy and Arrhythmia Gene Panel, Tissue
Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to cardiomyopathy or suspicious for cardiac arrhythmia or with a personal or family history suggestive of a hereditary form of...
NTC3Z - Overview: NOTCH3 Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis in individuals with features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and NOTCH3-related disorders Identifying disease-causing variants...
NENZ - Overview: Red Blood Cell Enzyme Disorders Gene Panel, Next-Generation Sequencing, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an underlying red blood cell enzymopathy Identifying variants within genes associated with phenotypic severity, allowing for...
NMEM - Overview: Red Blood Cell Membrane Disorders Gene Panel, Next-Generation Sequencing, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a red blood cell (RBC) membrane disorder Second-tier testing for patients in whom previous targeted gene variant analyses were...
PMCMG - Overview: Postmortem Cardiomyopathy Gene Panel, Tissue
Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to cardiomyopathy or with a personal or family history suggestive of a hereditary form of cardiomyopathy Identifying a disease-causing...
PLASF - Overview: Plasma Cell Proliferative Disorder, FISH, Tissue
Supporting the diagnosis of plasmacytoma or myeloma when coordinated with a surgical pathology consultation
Detecting a neoplastic clone associated with Philadelphia chromosome-like acute lymphoblastic leukemia (ALL), particularly when a classic abnormality is not detected with the initial panel An adjunct to conventional chromosome studies in...
SMNDX - Overview: Spinal Muscular Atrophy Diagnostic Assay, Deletion/Duplication Analysis, Varies
First-tier newborn screening for spinal muscular atrophy (SMA) Prenatal testing for SMA Diagnostic testing to confirm a suspected diagnosis of SMA
Evaluating patients with suspected stiff-person syndrome (classical or focal forms, such as stiff-limb or stiff-trunk) and progressive encephalomyelitis with rigidity and myoclonus using serum specimens
Evaluating patients with suspected stiff-person syndrome (classical or focal forms, such as stiff-limb or stiff-trunk) and progressive encephalomyelitis with rigidity and myoclonus using spinal fluid specimens
TCRB - Overview: T-Cell Receptor V-Beta Repertoire Analysis, Spectratyping, Blood
Assessment of T-cell receptor diversity in various clinical contexts including inborn errors of immunity (formerly primary immunodeficiencies), monitoring immune reconstitution post-hematopoietic stem cell transplantation, and temporal...
DHCRZ - Overview: Smith Lemli Opitz Syndrome, DHCR7 Gene, Full Gene Analysis, Varies
Follow up for abnormal biochemical results suggestive of Smith-Lemli-Opitz syndrome Establishing a molecular diagnosis for patients with Smith-Lemli-Opitz syndrome Identifying alterations within DHCR7 allowing for predictive testing of...
Providing a genetic evaluation for patients with a personal or family history suggestive of recessive congenital methemoglobinemia Genotype confirmation of borderline cytochrome b5 reductase (methemoglobin reductase: METR) enzyme activity...
TYRGP - Overview: Tyrosine Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a tyrosine disorder Establishing a molecular diagnosis for patients with tyrosine disorders Identifying variants within genes known to be associated with tyrosine disorders,...
SRYF - Overview: Sex-Determining Region Y, Yp11.3 Deletion, FISH
Detecting the deletion or addition of the SRY gene in conjunction with conventional chromosome studies
3MGAP - Overview: 3-Methylglutaconic Aciduria Panel, Varies
Follow up for abnormal biochemical results suggestive of 3-methylglutaconic aciduria (3-MGA) Establishing a molecular diagnosis for patients with 3-MGA Identifying variants within genes known to be associated with3-MGA, allowing for...
DD22F - Overview: 22q11.2 Deletion/Duplication, FISH, Varies
Establishing a diagnosis of 22q deletion/duplication syndromes Detecting cryptic rearrangements involving 22q11.2 or 22q11.3 that are not demonstrated by conventional chromosome studies
WNDZ - Overview: Wilson Disease, ATP7B Full Gene Sequencing with Deletion/Duplication, Varies
Confirming the diagnosis of Wilson disease
WARSQ - Overview: Warfarin Response Genotype, Varies
Identifying patients who may require warfarin dosing adjustments(3,4) including: -Patients being started on a first prescription for warfarin -Patients who have previously been prescribed warfarin and have required multiple dosing...
BTKSG - Overview: Bruton Tyrosine Kinase, BTK Full Gene Analysis, Varies
Confirming a diagnosis of X-linked agammaglobulinemia in patients with a history of recurrent sinopulmonary infections, profound hypogammaglobulinemia, and less than 1% peripheral B cells, with or without abnormal Bruton tyrosine kinase...
GNANT - Overview: Antithrombin Deficiency, SERPINC1 Gene, Next-Generation Sequencing, Varies
Evaluating antithrombin AT deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming an AT deficiency diagnosis with the identification of a known or suspected disease-causing...
AGDD - Overview: Alpha Globin Cluster Locus Deletion/Duplication, Varies
Diagnosis of alpha-thalassemia Carrier screening for individuals from high-risk populations for alpha-thalassemia This test is not useful for diagnosis or confirmation of beta-thalassemia or hemoglobinopathies.
AMLMF - Overview: Acute Myeloid Leukemia (AML), Specified FISH, Varies
Detecting recurrent common chromosome abnormalities seen in patients with acute myeloid leukemia (AML) using a client-specified probe set An adjunct to chromosome studies in patients with AML Evaluating specimens in which chromosome...
Evaluation of pediatric bone marrow and peripheral blood specimens by fluorescence in situ hybridization (FISH) probe analysis for classic rearrangements and chromosomal copy number changes associated with acute myeloid leukemia (AML) in...
CHDGG - Overview: Congenital Heart Disease Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history of congenital heart disease Establishing a diagnosis of a genetic condition associated with congenital heart disease
Detecting drug use involving stimulants, benzodiazepines, and opioids This test is not intended for use in employment-related testing.
HFAOP - Overview: Fatty Acid Oxidation Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a fatty acid oxidation disorder Establishing a molecular diagnosis for patients with a fatty acid oxidation disorder Identifying variants within genes known to be associated with a...
2D6Q - Overview: Cytochrome P450 2D6 Comprehensive Cascade, Varies
Providing information relevant to tamoxifen, codeine, and tramadol, as well as other medications metabolized by cytochrome P450 2D6 Determining the exact genotype when other methods fail to generate this information or if...
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Test Order LOINC Values current as of June 25, 2025 Test ID Test Order Name Order LOINC Code LOINC Attributes Method Name 10AIH Factor X Inhibitor Profile, Professional Interpretation 69049-5 Coagulation specialist...