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Test Catalog

MLHPB - Overview: MLH1 Hypermethylation Analysis, Blood

As an adjunct to positive hypermethylation in tumor to distinguish between somatic and germline hypermethylation As an adjunct to negative MLH1 germline testing in cases where colon or endometrial tumor demonstrates microsatellite...

OPATX - Overview: Opiates Confirmation, Chain of Custody, Random, Urine

Detection and quantification of codeine, hydrocodone, oxycodone, morphine, hydromorphone, oxymorphone, noroxycodone, noroxymorphone, norhydrocodone, dihydrocodeine, and naloxone in urine Chain of custody is required whenever the results of...

STFRP - Overview: Shiga Toxin, Molecular Detection, PCR, Feces

Sensitive, specific, and rapid detection of the presence of Shiga toxin-producing organisms such as Escherichia coli O157:H7 and Shigella dysenteriae type 1 in stool This test is not recommended as a test of cure.

TOSU - Overview: Targeted Opioid Screen, Random, Urine

Determining compliance or identifying illicit opioid drug use using urine specimens This test is not intended for employment-related testing.

RBART - Overview: Bartter Syndrome Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Bartter syndrome Establishing a diagnosis of Bartter syndrome

EDMDP - Overview: Inherited Emery-Dreifuss Gene Panel, Varies

Establishing a molecular diagnosis for patients with Emery-Dreifuss muscular dystrophy Identifying variants within genes known to be associated with Emery-Dreifuss muscular dystrophy, allowing for predictive testing of at-risk family...

PKLRZ - Overview: PKLR Full Gene Analysis, Varies

Aiding in the diagnosis of pyruvate kinase (PK) deficiency Ascertaining a causative variant in the PKLR gene of patients with low or relatively low levels of erythrocytic PK enzymatic activity Ascertaining carrier status of family members...

SEP9Z - Overview: SEPTIN9 Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis for patients with hereditary neuralgic amyotrophy Identifying variants within SEPTIN9 known to be associated with hereditary neuralgic amyotrophy, allowing for predictive testing of at-risk family members

SOD1Z - Overview: SOD1 Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis for patients with amyotrophic lateral sclerosis (ALS) Identifying variants within SOD1 known to be associated with ALS, allowing for predictive testing of at-risk family members

GALZ - Overview: Galactosemia, GALT Gene, Full Gene Analysis, Varies

Identifying variants in individuals who test negative for the common variants and who have a biochemical diagnosis of galactosemia or galactose-1-phosphate uridyltransferase activity levels indicative of carrier status

ARSBB - Overview: Arylsulfatase B, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) This test is not useful for carrier detection for MPS VI

HV1CM - Overview: HIV-1 and HIV-2 Antibody Screen for Hemolyzed Specimens, Serum

Screening cadaveric or hemolyzed serum specimens for HIV-1 and/or HIV-2 infection in nonsymptomatic patients with or without risk factors for HIV infection This test is not offered as a screening or confirmatory test for blood donor...

HV1CD - Overview: HIV-1 and HIV-2 Antibodies for Cadaveric or Hemolyzed Specimens, Serum

Diagnosing HIV-1 and/or HIV-2 infection in cadaveric or hemolyzed serum specimens from symptomatic patients with or without risk factors for HIV infection This test is not offered as a screening or confirmatory test for blood donor...

MP9W - Overview: Mucopolysaccharidoses, Nine-Enzyme Panel, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidoses types II, IIIA, IIIB, IIIC, IIID, IVA, IVB, VI, and VII, and of multiple sulfatase deficiency This test is not useful for carrier detection.

PGRBC - Overview: Plasmalogens, Blood

Diagnosing patients with possible peroxisomal disorders, such as peroxisomal biogenesis disorders (Zellweger syndrome spectrum) and rhizomelic chondrodysplasia punctata (RCDP), including fatty acyl-CoA reductase 1 (FAR1) deficiency...

APGP - Overview: Acute Porphyria Gene Panel, Varies

Establishing a molecular diagnosis for patients with acute porphyria Identifying variants within genes known to be associated with acute porphyria, allowing for predictive testing of at-risk family members

MDYSP - Overview: Inherited Muscular Dystrophy Gene Panel, Varies

Establishing a molecular diagnosis for patients with muscular dystrophy Identifying variants within genes known to be associated with muscular dystrophy, allowing for predictive testing of at-risk family members

PARDP - Overview: Inherited Parkinson Disease Gene Panel, Varies

Establishing a molecular diagnosis for patients with Parkinson disease Identifying variants within genes known to be associated with Parkinson disease, allowing for predictive testing of at-risk family members

ISNP - Overview: Inherited Sensory Neuropathy Gene Panel, Varies

Establishing a molecular diagnosis for patients with hereditary sensory (HSN) and autonomic neuropathy (HSAN) Identifying variants within genes known to be associated with HSN and HSAN, allowing for predictive testing of at-risk family...

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

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...

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,...

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...

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...

ISPP - Overview: Inherited Spastic Paraplegia Gene Panel, Varies

Establishing a molecular diagnosis for patients with hereditary spastic paraplegia Identifying variants within genes known to be associated with hereditary spastic paraplegia, allowing for predictive testing of at-risk family members

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...

VHLZZ - Overview: Von Hippel Lindau Syndrome, VHL, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of Von Hippel-Lindau (VHL) syndrome Establishing a diagnosis of a VHL allowing for targeted cancer surveillance based on associated risks Identifying genetic variants...

HCVG - Overview: Hepatitis C Virus Genotype, Serum

Determining hepatitis C virus (HCV) genotype (1 to 5) to guide antiviral therapy in patients with chronic hepatitis C Differentiating between HCV subtypes 1a and 1b This assay should not be used as a screening test for HCV infection. It...

HCVQN - Overview: Hepatitis C Virus (HCV) RNA Detection and Quantification by Real-Time Reverse Transcription-PCR, Serum

Detection of acute hepatitis C virus (HCV) infection before the appearance of HCV antibodies in serum (ie, <2 months from exposure) Detection and confirmation of chronic HCV infection Quantification of HCV RNA in serum of patients with...

MPS4B - Overview: Mucopolysaccharidosis IV Enzyme Panel, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidosis type IVA and IVB This test is not useful for carrier detection.

MP8BS - Overview: Mucopolysaccharidoses, Eight-Enzyme Panel, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidoses types II, IIIA, IIIB, IIIC, IVA, IVB, VI, and VII, and of multiple sulfatase deficiency This test is not useful for carrier detection.

PGDBS - Overview: Plasmalogens, Blood Spot

Diagnosing patients with possible peroxisomal disorders, such as peroxisomal biogenesis disorders (Zellweger syndrome spectrum) and rhizomelic chondrodysplasia punctata (RCDP), including fatty acyl-CoA reductase 1 (FAR1)...

PADF - Overview: Prenatal Aneuploidy Detection, FISH

Screening for chromosomal aneuploidies of chromosomes 13, 18, 21, X, and Y in prenatal specimens

MULT - Overview: Zygosity Testing (Multiple Births), Varies

Determining genetic risk for an individual whose twin or triplet is affected with a genetic disorder for which a specific genetic test is not available (or such testing is uninformative) Assessment of risks prenatally when one fetus of...

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

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...

ATAXP - Overview: Inherited Ataxia Gene Panel, Varies

Establishing a molecular diagnosis for patients with ataxia Identifying variants within genes known to be associated with ataxia, allowing for predictive testing of at-risk family members

KETGP - Overview: Ketone Disorders Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a ketone disorder Establishing a molecular diagnosis for patients with ketone disorders Identifying variants within genes known to be associated with ketone disorders, allowing for...

GSDGP - Overview: Glycogen Storage Disease Gene Panel, Varies

Follow up of abnormal biochemical results consistent with glycogen storage disease (GSD) Establishing a molecular diagnosis for patients with GSD Identifying variants within genes known to be associated with GSD allowing for predictive...

MPAGP - Overview: Methylmalonic Aciduria-Propionic Aciduria Combined Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of methylmalonic acidemia or propionic acidemia Establishing a molecular diagnosis for patients with methylmalonic acidemia or propionic acidemia Identifying variants within genes...

MSUDP - Overview: Maple Syrup Urine Disease Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of maple syrup urine disease (MSUD) Establishing a molecular diagnosis for patients with MSUD Identifying variants within genes known to be associated with MSUD, allowing for...

PDGP - Overview: Peroxisomal Disorder Gene Panel, Varies

Follow up of abnormal biochemical result, usually very long-chain fatty acid test consistent with peroxisomal disorder Establishing a molecular diagnosis for patients with peroxisomal disorders Identifying variants within genes known to...

LLTOT - Overview: Leukemia and Lymphoma Immunophenotyping, Technical Only, Tissue

Evaluation of tissues for potential involvement by: -Chronic lymphoproliferative disorders -Malignant lymphomas -Acute lymphoblastic leukemia -Acute myelogenous leukemia

LLPT - Overview: Leukemia/Lymphoma Immunophenotyping, Flow Cytometry, Tissue

Evaluation of tissues for potential involvement by: -Chronic lymphoproliferative disorders -Malignant lymphomas -Acute lymphoblastic leukemia -Acute myelogenous leukemia

CLADP - Overview: Congenital Lactic Acidosis Panel, Varies

Follow up for abnormal biochemical results suggestive of congenital lactic acidosis Establishing a molecular diagnosis for patients with congenital lactic acidosis Identifying variants within genes known to be associated with congenital...

CDGGP - Overview: Congenital Disorders of Glycosylation Gene Panel, Varies

Establishing a molecular diagnosis for patients with congenital disorders of glycosylation Identifying variants within genes known to be associated with congenital disorders of glycosylation, allowing for predictive testing of at-risk...

PEPAN - Overview: Comprehensive Peripheral Neuropathy Gene Panel, Varies

Establishing a molecular diagnosis for patients with peripheral neuropathy Identifying variants within genes known to be associated with peripheral neuropathy, allowing for predictive testing of at-risk family members

LSDGP - Overview: Lysosomal Storage Disease Gene Panel, Varies

Follow up for abnormal biochemical results and confirmation of suspected lysosomal storage disease (LSD) Establishing a molecular diagnosis for patients with LSD Identifying variants within genes known to be associated with LSD, allowing...

GNTHR - Overview: Thrombosis Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary thrombosis in patients with a personal or family history suggestive of a hereditary thrombosis disorder Confirming a hereditary thrombosis disorder diagnosis with the identification of a known or suspected pathogenic...

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Primary ciliary dyskinesia - Insights

Learn more about Mayo Clinic Laboratories’ robust approach to testing for primary ciliary dyskinesia, a rare genetic condition that can lead to chronic otosinopulmonary disease and infertility in men....

https://www.mayocliniclabs.com/it-mmfiles/cpt-code-changes.xlsx

note, CPT Code changes listed on this document are effective January 1st, 2025.*** ***Updates and other changes may occur, and be reflected on this document, leading up to 2025*** ***CPT Code Updates...

CPT Codes and LOINC Update: September 2019 - Insights

View a full list of new CPT codes, Test Classification Updates, LOINC Codes, and Z-Codes posted to mayocliniclabs.com during the month of September 2019....

MCL Primary Ciliary Dyskinesia Genetic Testing Patient Information MC1235297

MCL Primary Ciliary Dyskinesia Genetic Testing Patient Information Complete print Reset Form Primary Ciliary Dyskinesia Genetic Testing Patient Information Instructions Accurate interpretation reporting...

New communication process for CPT Code changes - Insights

Mayo Clinic Laboratories (MCL) is pleased to announce an essential update to our CPT code communication process and website layout. This change is designed to bring timely notifications for accurate billing...