BFCC - Overview: Cell Count and Differential, Body Fluid

Aiding in the diagnosis of joint disease, systemic disease, inflammation, malignancy, infection, and trauma

AFPA - Overview: Alpha-Fetoprotein, Amniotic Fluid

Screening for open neural tube defects or other fetal abnormalities Follow-up testing for patients with elevated serum alpha-fetoprotein results or in conjunction with cytogenetic testing

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

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

SEMB - Overview: Semen Analysis with Strict Morphology, Semen

Determining male fertility status Selecting the most cost-effective therapy for treating male-factor infertility Quantifying the number of germinal and white blood cells per milliliter of semen

FHLAB - Overview: HLA B High Resolution

HLA B High Resolution

FHLAA - Overview: HLA A High Resolution

HLA A High Resolution

FHLAC - Overview: HLA C High Resolution

HLA C High Resolution

ALKT - Overview: ALK Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying mutations within the ALK gene that predict resistance to ALK-inhibitors

POLET - Overview: POLE Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the POLE gene to assist in tumor diagnosis/classification

DICET - Overview: DICER1 Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the DICER1 gene to assist in tumor diagnosis/classification

IDTRT - Overview: IDH1, IDH2, and TERT Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the IDH1 and IDH2 genes and the TERT promoter to assist in tumor diagnosis/classification

MYODT - Overview: MYOD1 Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the MYOD1 gene to assist in tumor diagnosis/classification Assisting in the clinical management of patients with spindle cell and sclerosing rhabdomyosarcoma

MCFRC - Overview: MayoComplete Renal Cell Carcinoma with Fibromyomatous Stroma Panel, Next-Generation Sequencing, Tumor

Identifying specific mutations within the ELOC (TCEB1), TSC1, TSC2, and VHL genes to assist in tumor diagnosis/classification Assisting in the clinical management of patients with renal cell carcinoma

FROS2 - Overview: Fructose, Qualitative, Semen

Establishing the origin of azoospermia in patients with azoospermia and low volume ejaculates

ADULT - Overview: Adulterants Survey, Random, Urine

Assessment of possible adulteration of a urine specimen submitted for drug of abuse testing Providing the creatinine concentration for normalization purposes

CULAF - Overview: Culture for Genetic Testing, Amniotic Fluid

Producing amniocyte cultures that can be used for genetic analysis

CIFST - Overview: Cutaneous Immunofluorescence Antibodies Titer, IgG, Serum

Confirmation of positive IgG anti-cell surface (CS) and anti-basement membrane zone (BMZ) antibodies.

POSV - Overview: Post Vasectomy Check, Semen

Determining absence or presence of sperm postvasectomy

UPHB - Overview: pH, Body Fluid

Indicating the presence of infections or fistulas Verifying the effectiveness of treatment to reduce stomach pH Diagnosing disease states characterized by abnormal stomach acidity This test is not appropriate for measurement of...

MSTC - Overview: Strict Criteria Sperm Morphology for Infertility Diagnosis and Treatment, Semen

Diagnosing male infertility Selecting the most cost-effective therapy for treating male-factor infertility Quantifying the number of germinal and white blood cells per mL of semen

ADLTX - Overview: Adulterants Survey, Chain of Custody, Random, Urine

Assess the possible adulteration of a urine specimen submitted for drug of abuse testing Providing the urine creatinine concentration for normalization purposes Chain of custody is required whenever the results of testing could be used...

PIK3B - Overview: Cell-Free DNA PIK3CA Test, Blood

Identification of hormone receptor positive and human epidermal growth factor receptor 2 negative (HR+/HER2-) advanced breast cancer tumors that may be eligible for treatment with targeted kinase inhibitor therapy (eg, alpelisib).

KRASW - Overview: KRAS Somatic Mutation Analysis, Peritoneal Fluid

Staging of the pancreatic ductal adenocarcinoma(1)

MCRPL - Overview: Macroprolactin, Serum

Determining biologically active levels of prolactin, in asymptomatic patients with elevated prolactin levels Ruling out the presence of macroprolactin

PNRP - Overview: Pneumocystis jiroveci, Molecular Detection, PCR, Varies

Preferred test for detection of Pneumocystis

SPPCI - Overview: Stiff-Person Spectrum Disorders including Progressive Encephalomyelitis with Rigidity and Myoclonus, Interpretation, Spinal Fluid

Interpretation for the evaluation of stiff-person spectrum disorders, including the classical or focal forms, such as stiff-limb or stiff-trunk, and progressive encephalomyelitis with rigidity and myoclonus, using spinal fluid specimens

SPPSI - Overview: Stiff-Person Spectrum Disorders, including Progressive Encephalomyelitis with Rigidity and Myoclonus, Interpretation, Serum

Interpretation for the evaluation of stiff-person spectrum disorders including the classical or focal forms, such as stiff-limb or stiff-trunk, and progressive encephalomyelitis with rigidity and myoclonus, using serum specimens

MSTC1 - Overview: Strict Criteria Sperm Morphology for Infertility Diagnosis and Treatment, Semen

Diagnosing male infertility Selecting the most cost-effective therapy for treating male-factor infertility Quantifying the number of germinal and WBCs per mL of semen

FER - Overview: Semen Analysis, Semen

Determining male fertility status

FMBNY - Overview: Fetomaternal Bleed, New York, Blood

Determining the volume of fetal-to-maternal hemorrhage for the purposes of recommending an increased dose of the Rh immune globulin This test is used only for specimens collected in New York state.

FMB - Overview: Fetomaternal Bleed, Flow Cytometry, Blood

Determining the volume of fetal-to-maternal hemorrhage for the purposes of recommending an increased dose of the Rh immune globulin

CIFA - Overview: Cutaneous Immunofluorescence Antibodies, IgA, Serum

Confirming the presence of IgA antibodies to diagnose pemphigoid, pemphigus, epidermolysis bullosa acquisita, or bullous lupus erythematosus

T790M - Overview: Cell-Free DNA EGFR T790M Mutation Analysis, Blood

Determination of EGFR T790M mutation status in blood specimens as an alternative to invasive tissue biopsies Identification of patients with non-small cell lung cancer who harbor a T790M mutation and may benefit from specific EGFR-targeted...

CIFS - Overview: Cutaneous Immunofluorescence Antibodies, IgG and IgG4, Serum

Confirming the presence of IgG and/or IgG4 antibodies to diagnose pemphigoid, pemphigus, epidermolysis bullosa acquisita, or bullous lupus erythematosus

FUFXS - Overview: Fragile X, Follow-up Analysis

Confirming the methylation status of the repeat expansion allele in the FMR1 gene, to aid the diagnosis of FMR1-related disorders

HEMMF - Overview: Hematologic Specified FISH, Varies

The detection of specific chromosomal abnormalities in hematologic malignancies

PIK3T - Overview: PIK3CA Mutation Analysis, Tumor

Identification of hormone receptor positive and human epidermal growth factor receptor 2 negative (HR+/HER2-) advanced breast cancer tumors that may be eligible for treatment with targeted kinase inhibitor therapy (eg, alpelisib).

HEXAZ - Overview: Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies

Second-tier test for confirming a biochemical diagnosis of Tay-Sachs disease (TSD) Carrier testing of individuals with a family history of TSD but an affected individual is not available for testing or disease-causing mutations have not...

SCIDP - Overview: Severe Combined Immunodeficiency (SCID) Gene Panel, Varies

Establishing a diagnosis of a severe combined immunodeficiency (SCID) associated with known causal genes Identifying variants within genes known to be associated with SCID, allowing for predictive testing of at-risk family members and/or...

PRKAF - Overview: Fibrolamellar Carcinoma, 19p13.1 (PRKACA) Rearrangement, FISH, Tissue

Aid in the diagnosis of identifying PRKACA gene rearrangements of patients with fibrolamellar carcinoma

DCME - Overview: Dendritic Cell and Monocyte Enumeration, Blood

Aiding in the diagnosis of patients suspected of defects in innate immunity, particularly those involving monocyte and dendritic cell development This test has not been validated for the diagnosis of 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

BTDZ - Overview: Biotinidase Deficiency, BTD Full Gene Analysis, Varies

Second-tier test for confirming biotinidase deficiency (indicated by biochemical testing or newborn screening) Carrier testing of individuals with a family history of biotinidase deficiency, but disease-causing mutations have not been...

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

IFBA - Overview: Intrinsic Factor Blocking Antibody, Serum

Confirming the diagnosis of pernicious anemia

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

PRSSZ - Overview: PRSS1 Gene, Full Gene Analysis, Varies

Confirmation of suspected clinical diagnosis of hereditary pancreatitis (HP) in patients with chronic pancreatitis Identification of familial PRSSI mutation to allow for predictive and diagnostic testing in family members

PLPMA - Overview: Prolactin, Pituitary Macroadenoma, Serum

Quantifying prolactin in serum specimens where the high-dose hook effect is suspected (eg, presence of pituitary tumor with symptoms of prolactinoma, and lower than expected serum prolactin concentration)