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Test Catalog
Identifying class I and II human leukocyte antigens (HLA) for potential disease associations or markers for drug hypersensitivity
CULAF - Overview: Culture for Genetic Testing, Amniotic Fluid
Producing amniocyte cultures that can be used for genetic analysis
Determining class II human leukocyte antigens (HLA) to identify potential disease associations or markers for drug hypersensitivity
Determining class I human leukocyte antigens (HLA) on specimens for those patients who have become refractory to platelet transfusions and identify potential disease associations or markers for drug hypersensitivity
PPAP - Overview: Parental Sample Prep for Prenatal Microarray Testing, Blood
Preparing parental blood specimen for possible confirmation testing if an abnormality is detected on the prenatal array sample DNA extraction of the maternal blood specimen used for maternal cell contamination testing
KRASW - Overview: KRAS Somatic Mutation Analysis, Peritoneal Fluid
Staging of the pancreatic ductal adenocarcinoma(1)
BILAO - Overview: Biliary Tract Malignancy, FISH, Varies
Assessing bile duct brushing or hepatobiliary brushing specimens for biliary tract malignancy
HEMMF - Overview: Hematologic Specified FISH, Varies
The detection of specific chromosomal abnormalities in hematologic malignancies
CMAFF - Overview: Chromosomal Microarray (CMA) Familial Testing, FISH
Determining the inheritance pattern of copy number changes previously identified by chromosomal microarray analysis in a patient and aiding in the clinical interpretation of the pathogenicity of the copy number change
BRAFB - Overview: Cell-Free DNA BRAF V600, Blood
An alternative to invasive tissue biopsies for the determination of BRAF V600E and V600K alterations Identification of patients with cancer who are most likely to benefit from targeted therapies This test is not intended for serial...
CHRTI - Overview: Chromosome Analysis, Skin Biopsy
Diagnosis of mosaic congenital chromosome abnormalities, including mosaic aneuploidy and mosaic structural abnormalities Subsequent chromosome analysis when results from peripheral blood are inconclusive
FFRWB - Overview: Friedreich Ataxia, Frataxin, Quantitative, Blood
Diagnosing individuals with Friedreich ataxia in whole blood specimens Monitoring frataxin levels in patients with Friedreich ataxia This test is not useful for carrier detection.
PRKAF - Overview: Fibrolamellar Carcinoma, 19p13.1 (PRKACA) Rearrangement, FISH, Tissue
Aid in the diagnosis of identifying PRKACA gene rearrangements of patients with fibrolamellar carcinoma
HL58R - Overview: HLA-B*5801 Genotype, Allopurinol Hypersensitivity, Varies
Identifying individuals with an increased risk of severe cutaneous adverse reactions to allopurinol based on the presence of the human leukocyte antigen HLA-B*58:01 allele
Identification of individuals who may be at risk for aminoglycoside-induced hearing loss (AIHL) Establishing a diagnosis of late-onset sensorineural hearing loss associated with aminoglycoside exposure Identifying mitochondrial variants...
WAGDR - Overview: Alpha Globin Cluster Locus Deletion/Duplication, Blood
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.
HOLDC - Overview: Hematologic Disorders, Chromosome Hold, Varies
Holding the bone marrow or peripheral blood specimen in the laboratory but delaying chromosome analysis while preliminary morphologic assessment is in process
JAK2P - Overview: JAK2 (9p24.1) Rearrangement, Hematologic Disorders, FISH, Tissue
Providing diagnostic information for hematologic malignancies Aiding in the determination of whether a targeted JAK2 inhibitor could be useful for therapy
CMAT - Overview: Chromosomal Microarray, Tumor, Fresh or Frozen
Genomic characterization of tumor for copy number imbalances and loss of heterozygosity Assisting in the diagnosis and classification of malignant neoplasms, including hematolymphoid malignancies Evaluating the prognosis for patients with...
TFEBF - Overview: Renal Cell Carcinoma, 6p21.1 (TFEB) Rearrangement, FISH, Tissue
Identifying TFEB gene rearrangements in patients with renal cell carcinoma (RCC)
FFRBS - Overview: Friedreich Ataxia, Frataxin, Quantitative, Blood Spot
Diagnosing individuals with Friedreich ataxia in blood spot specimens Monitoring frataxin levels in patients with Friedreich ataxia This test is not useful for carrier detection.
TGOGF - Overview: TGFBR3 (1p22), OGA (10q24) Rearrangement, FISH, Tissue
Supporting the diagnosis of pleomorphic hyalinizing angiectatic tumor, or hemosiderotic fibrolipomatous tumors associated with rearrangement of the OGA and/or TGFBR3 gene when used in conjunction with an anatomic pathology consultation
SCTF - Overview: Sex Chromosome Determination, FISH, Tissue
Identifying the sex chromosome complement in paraffin-embedded tissues
KRASP - Overview: KRAS Somatic Mutation Analysis, Tumor
Detecting molecular markers associated with response or resistance to specific cancer therapies
MATCC - Overview: Maternal Cell Contamination, Molecular Analysis, Varies
Ruling out the presence of maternal cell contamination within a fetal specimen Required for all prenatal testing performed in Mayo Clinic Laboratories' Molecular and Biochemical Genetics laboratories
CSTB - Overview: CSTB Gene, Repeat Expansion Analysis, Varies
Molecular confirmation of clinically suspected CSTB-related progressive myoclonic epilepsy Identifying full penetrance dodecamer repeat expansions within CSTB known to cause CSTB-related progressive myoclonic epilepsy, allowing for...
BRAFD - Overview: BRAF V600E/V600K Somatic Mutation Analysis, Tumor
Therapy selection for patients with cancer (eg, melanomas that may respond to BRAF inhibitors, colon cancers that may not respond to EGFR inhibitors) Aiding in the diagnosis/prognosis of certain cancers (eg, hairy cell leukemia, papillary...
Supporting the diagnosis of alveolar rhabdomyosarcomas when used in conjunction with an anatomic pathology consultation
IMTF - Overview: Inflammatory Myofibroblastic Tumors (IMT), 2p23 (ALK) Rearrangement, FISH, Tissue
Supporting the diagnosis of inflammatory myofibroblastic tumors when used conjunction with an anatomic pathology consultation
CMAPT - Overview: Chromosomal Microarray, Tumor, Formalin-Fixed Paraffin-Embedded
Genomic characterization of tumor for copy number imbalances and loss of heterozygosity Assisting in the diagnosis and classification of malignant neoplasms Evaluating the prognosis for patients with malignant tumors
CMAH - Overview: Chromosomal Microarray, Hematologic Disorders, Varies
Detection and characterization of clonal copy number imbalance and loss of heterozygosity associated with hematologic neoplasms Assisting in the diagnosis and classification of certain hematologic neoplasms Evaluating the prognosis for...
NADF - Overview: Newborn Aneuploidy Detection, FISH, Blood
Screening for chromosomal aneuploidies of chromosomes 13, 18, 21, X, and Y in newborn peripheral blood specimens
NUT1F - Overview: NUTM1 (15q14) Rearrangement, FISH, Tissue
Identifying NUTM1 gene rearrangements in patients with nuclear protein in testis midline carcinoma to aid in confirming or excluding the diagnosis
PMMIL - Overview: Phosphomannomutase and Phosphomannose Isomerase, Leukocytes
Diagnosing congenital disorders of glycosylation Ia (phosphomannomutase-2 deficiency: PMM2-CDG) and Ib (phosphomannose isomerase deficiency: MPI-CDG) as measured in leukocytes Follow-up testing for patients with an abnormal type I CDG...
Confirming the diagnosis of dermatofibrosarcoma protuberans (DFSP)/giant cell fibroblastoma (GCF) and excluding other spindle neoplasms that closely simulate the DFSP histology, including dermatofibroma (benign fibrous histiocytoma),...
EWSF - Overview: Ewing Sarcoma, 22q12 (EWSR1) Rearrangement, FISH, Tissue
Detection of EWSR1 rearrangements irrespective of the EWSR1 fusion partner gene Supporting the diagnosis of many neoplasms including, but not limited to, Ewing sarcoma, extraskeletal myxoid chondrosarcoma, desmoplastic small round cell...
ETV6F - Overview: ETV6 (12p13.2) Rearrangement, FISH, Tissue
Detection of ETV6 rearrangements irrespective of the ETV6 fusion partner gene Supporting the diagnosis of many neoplasms including, but not limited to, mammary analogue secretory carcinoma, secretory carcinoma of the breast, and infantile...
Producing cell cultures that can be used for enzymatic or molecular genetic analysis
FGFR2 - Overview: FGFR2 (10q26.1) Rearrangement, FISH, Tissue
Providing prognostic information and guiding treatment for patients with cholangiocarcinomas and other tumor types including bladder, thyroid, oral cavity, and brain
XYMF - Overview: Known 45,X, Mosaicism Reflex Analysis, FISH, Whole Blood
Detecting sex chromosome mosaicism in patients with a 45,X karyotype
DDITF - Overview: Myxoid/Round Cell Liposarcoma, 12q13 (DDIT3 or CHOP) Rearrangement, FISH, Tissue
Aiding in the diagnosis of myxoid/round cell liposarcoma by detecting a neoplastic clone associated with gene rearrangement involving the DDIT3 (CHOP) gene region at 12q13
Supporting the diagnosis of low-grade fibromyxoid sarcoma when used in conjunction with an anatomic pathology consultation
USPF - Overview: USP6 (17p13), Aneurysmal Bone Cyst and Nodular Fasciitis, FISH, Tissue
Supporting the diagnosis of aneurysmal bone cyst or nodular fasciitis
Predicting risk for statin-associated myopathy in patients beginning statin therapy, especially simvastatin therapy Determining a potential statin lipid lowering response, especially when using pravastatin
IL28Q - Overview: Interleukin 28B (IL28B) Variant (rs12979860), Varies
Predicting responsiveness of genotype 1 hepatitis C viral infections to combined pegylated-interferon and ribavirin-based therapies
HOLDF - Overview: Hematologic Disorders, Fluorescence In Situ Hybridization (FISH) Hold, Varies
Processing the bone marrow or peripheral blood specimen but delaying fluorescence in situ hybridization analysis while preliminary morphologic assessment is in process
MASF - Overview: Angiosarcoma, MYC (8q24) Amplification, FISH, Tissue
Identifying MYC amplification to aid in the differentiation of cutaneous angiosarcomas from atypical vascular lesions after radiotherapy
CMAMT - Overview: Chromosomal Microarray, Autopsy/Products of Conception/Stillbirth, Tissue
Diagnosis of congenital copy number changes in products of conception, including aneuploidy (ie, trisomy or monosomy) and structural abnormalities Diagnosing chromosomal causes for fetal death Determining recurrence risk of future...
CHRHB - Overview: Chromosome Analysis, Hematologic Disorders, Blood
Assisting in the classification and follow-up of certain malignant hematological disorders when bone marrow is not available This test is not useful for congenital disorders.
NAT2Q - Overview: N-Acetyltransferase 2 (NAT2) Genotype, Varies
Identifying patients who may be at risk for altered metabolism of drugs that are substrates of arylamine N-acetyltransferase type 2, including isoniazid
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Test Order LOINC Values current as of September 15, 2025 Test ID Test Order Name Order LOINC Code LOINC Attributes Method Name 10AIH Factor X Inhibitor Profile, Professional Interpretation 69049-5 Coagulation specialist...