BRFKT - Overview: BRAF and KIT Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the BRAF and KIT genes that predict response to therapy

CLLMF - Overview: Chronic Lymphocytic Leukemia, Specified FISH, Varies

Detecting recurrent common chromosome abnormalities in patients with chronic lymphocytic leukemia (CLL) Distinguishing patients with 11;14 translocations who have the leukemic phase of mantle cell lymphoma from patients who have CLL...

COMTQ - Overview: Catechol-O-Methyltransferase (COMT) Genotype, Varies

Prediction of response to nicotine replacement therapy for smoking cessation Investigation of inhibitor dosing for decreasing levodopa metabolism Research use for assessing estrogen metabolism

XL2T - Overview: FOXL2 Mutation Analysis, Next-Generation Sequencing, Tumor

Assisting in the clinical diagnosis of adult granulosa cell tumor by assessing gene targets with in the FOXL2 gene

LCAF - Overview: Lung Cancer, ALK (2p23) Rearrangement, FISH, Tissue

Identifying patients with non-small cell lung carcinoma who may benefit from treatment with directed tyrosine kinase inhibitors

METAF - Overview: Metanephrines, Fractionated, 24 Hour, Urine

A first- and second-order screening test for the presumptive diagnosis of catecholamine-secreting pheochromocytomas and paragangliomas Confirming positive plasma metanephrine results

MPS2Z - Overview: Hunter Syndrome, Full Gene Analysis, Varies

Confirmation of a diagnosis of mucopolysaccharidosis type II (Hunter syndrome) Carrier testing when there is a family history of mucopolysaccharidosis type II (Hunter syndrome), but disease-causing variants have not been previously...

ROS1F - Overview: Lung Cancer, ROS1 (6q22) Rearrangement, FISH, Tissue

Fluorescence in situ hybridization (FISH) testing for ROS1 allows for the detection of most ROS1 rearrangements, therefore, is useful for identifying tumors that may be sensitive to directed therapy ROS1 FISH testing may also support the...

GCTF - Overview: Germ Cell Tumor (GCT), Isochromosome 12p, FISH, Tissue

Supporting the diagnosis of germ cell tumors when used conjunction with an anatomic pathology consultation

FABRZ - Overview: Fabry Disease, Full Gene Analysis, Varies

Confirmation of a diagnosis of classic or variant Fabry disease in affected males with reduced alpha- galactosidase A enzyme activity Carrier or diagnostic testing for asymptomatic or symptomatic females, respectively

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

NR4A3 - Overview: NR4A3 (9q22.33) Rearrangement, FISH, Tissue

Identifying NR4A3 gene rearrangements Supporting the diagnosis of extraskeletal myxoid chondrosarcoma or acinic cell carcinoma when used in conjunction with an anatomic pathology consultation

MDSMF - Overview: Myelodysplastic Syndrome (MDS), Specified FISH, Varies

Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myelodysplastic syndromes or other myeloid malignancies using client specified probes Evaluating specimens in which standard...

MCADZ - Overview: Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Full Gene Analysis, Varies

Confirmation of diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (as a follow-up to biochemical analyses) Screening of at-risk carriers of MCAD deficiency when an affected relative has not had molecular testing Diagnosis...

NONCR - Overview: Neuro-Oncology Gene Panel, Rearrangements Only, Tumor

Identifying rearrangements that may support a diagnosis or help determine prognosis for patients with central nervous system tumors Identifying rearrangements within genes known to be associated with response or resistance to specific...

MAMLF - Overview: MAML2 (11q21) Rearrangement, Mucoepidermoid Carcinoma (MEC), FISH, Tissue

Supporting the diagnosis of mucoepidermoid carcinoma when used in conjunction with an anatomic pathology consultation

MSTF - Overview: Myeloid Sarcoma, FISH, Tissue

Supporting the diagnosis of myeloid sarcoma when coordinated with a surgical pathology consultation

METF - Overview: MET (7q31), FISH, Tissue

Providing prognostic information and guiding treatment primarily for patients with lung, gastric, and colorectal tumors as well as other tumor types

PVLE - Overview: Paraneoplastic Vision Loss Evaluation, Serum

Evaluating patients with rapidly progressive vision loss where a paraneoplastic cause for vision loss (retinopathy or optic neuritis with other findings [eg, retinitis] is suspected) Evaluating patients with small-cell carcinoma who...

PCMSP - Overview: Postmortem Inherited Congenital Myasthenia Syndrome Gene Panel, Tissue

Identifying variants within genes known to be associated with congenital myasthenic syndrome, allowing for predictive testing of at-risk family members Providing a comprehensive postmortem genetic evaluation in the setting of a congenital...

PMPDD - Overview: PMP22 Gene, Large Deletion/Duplication Analysis, Varies

Diagnosis of Charcot-Marie-Tooth type 1A or hereditary neuropathy with liability to pressure palsies

SCAP - Overview: Spinocerebellar Ataxia Repeat Expansion Panel, Varies

Molecular confirmation of clinically suspected spinocerebellar ataxia when a specific subtype isn't suspected

TERTD - Overview: TERT Promoter Mutation Analysis, Droplet Digital PCR, Tumor

Identifying specific mutations within the TERT promoter that assist in tumor diagnosis/classification

TP53 - Overview: TP53 Mutation Analysis, Next-Generation Sequencing, Tumor

Assisting in the clinical management of patients with cancer This test is not intended for the evaluation of patients suspected of having an inherited or germline TP53 cancer syndrome (eg, Li Fraumeni syndrome).

TLPMF - Overview: T-Cell Lymphoma, Specified FISH, Varies

Detecting, at diagnosis, common chromosome abnormalities associated with specific T-cell lymphoma subtypes using client specified probes

SS18F - Overview: Synovial Sarcoma (SS), 18q11.2 (SS18 or SYT) Rearrangement, FISH, Tissue

Supporting the diagnosis of synovial sarcoma when used in conjunction with an anatomic pathology consultation

XALDZ - Overview: X-Linked Adrenoleukodystrophy, Full Gene Analysis, Varies

Confirming a diagnosis of X-linked adrenoleukodystrophy Identifying a variant in the ABCD1 gene

ALAGP - Overview: Alagille Syndrome Gene Panel, Varies

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

CLLDF - Overview: Chronic Lymphocytic Leukemia, Diagnostic FISH, Varies

Detecting recurrent common chromosome abnormalities in patients with chronic lymphocytic leukemia (CLL) Distinguishing patients with 11;14 translocations who have the leukemic phase of mantle cell lymphoma from patients who have...

CD20B - Overview: CD20 on B Cells, Blood

Evaluation of patients with a suspected CD19 deficiency (humoral immunodeficiency) Confirming complete absence of B cells in suspected primary humoral immunodeficiencies using both CD19 and CD20 markers Assessing therapeutic B-cell...

CHRCB - Overview: Chromosome Analysis, Congenital Disorders, Blood

Diagnosis of congenital chromosome abnormalities, including aneuploidy, structural abnormalities, and balanced rearrangements

CFMP - Overview: Cystic Fibrosis, CFTR Gene, Variant Panel, Varies

Confirmation of a clinical diagnosis of cystic fibrosis Reproductive risk refinement via carrier screening for individuals in the general population Reproductive risk refinement via carrier screening for individuals with a family history...

TFH - Overview: FH Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the FH gene to assist in tumor diagnosis/classification, including renal cell carcinoma, uterine/cutaneous leiomyoma, and pheochromocytoma/paraganglioma

COGBL - Overview: Chromosome Analysis, Hematologic Disorders, Children's Oncology Group Enrollment Testing, Blood

Evaluation of pediatric blood specimens for chromosomal abnormalities associated with hematologic malignancies for diagnostic and prognostic purposes in patients being considered for enrollment in Children's Oncology Group clinical trials...

CHRCV - Overview: Chromosome Analysis, Chorionic Villus Sampling

Prenatal diagnosis of chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and balanced rearrangements This test is not appropriate as a first-tier test for detecting gains or losses of chromosomal material in...

CD4NY - Overview: CD4 Count for Monitoring, New York, Blood

Only orderable by New York clients Serial monitoring of CD4 T-cell count in patients who are HIV-positive Follow-up and diagnostic evaluation of primary cellular immunodeficiencies, including severe combined immunodeficiency T-cell...

HISGT - Overview: Histone Genes Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the H3-3A, H3-3B, H3C2, H3C3 and H3C14 genes that assist in tumor diagnosis/classification

IDHT - Overview: IDH1 and IDH2 Mutation Analyses, Next-Generation Sequencing, Tumor

Identifying specific mutations within the IDH1 and IDH2 genes that assist in tumor diagnosis/classification and predict response to targeted therapy

MCGST - Overview: MayoComplete Gastrointestinal Stromal Tumor (GIST) Panel, Next-Generation Sequencing, Tumor

Establishing diagnosis and identifying targeted therapies for patients with gastrointestinal stromal tumors Assessing microsatellite instability

MCOCP - Overview: MayoComplete Ovarian, Fallopian Tube, and Peritoneal Cancer Panel, Next-Generation Sequencing, Tumor

Primarily for determining if patients will respond to targeted therapy Assessment of microsatellite instability for immunotherapy decisions

MESOF - Overview: Mesothelioma, CDKN2A FISH, Tissue

Supporting the diagnosis of mesothelioma when used in conjunction with an anatomic pathology consultation

MPS1Z - Overview: Hurler Syndrome, Full Gene Analysis, Varies

Identifying variants within the IDUA gene Confirmation of a diagnosis of mucopolysaccharidosis type I (MPS-I) Carrier testing when there is a family history of MPS- I, but disease-causing variants have not been previously identified

RETF - Overview: Lung Cancer, RET (10q11) Rearrangement, FISH, Tissue

Identifying RET gene rearrangements in patients with late-stage, lung adenocarcinomas that are negative for epidermal growth factor receptor mutations and anaplastic lymphoma kinase rearrangements Fluorescence in situ hybridization (FISH)...

MCECP - Overview: MayoComplete Endometrial Carcinoma Panel, Next-Generation Sequencing, Tumor

Primarily for determining if patients will respond to targeted therapy Assessment of microsatellite instability for immunotherapy decisions Molecular-based classification of endometrial carcinoma

MCLNR - Overview: MayoComplete Lung Rearrangements, Rapid Test, Tumor

Identifying lung tumors that may respond to targeted therapies by simultaneously assessing multiple genes involved in rearrangements resulting in fusion transcripts Diagnosing and managing patients with lung cancer

HL57R - Overview: HLA-B*57:01 Genotype, Pharmacogenomics, Varies

Identifying individuals with an increased risk of hypersensitivity reactions to abacavir, based on the presence of the human leukocyte antigen HLA-B*57:01 allele Identifying individuals taking pazopanib who have an increased risk of...

GALMP - Overview: Galactosemia, GALT Gene, Variant Panel, Varies

Second-tier test for confirming a diagnosis of galactosemia as indicated by enzymatic testing or newborn screening Carrier testing family members of an affected individual of known genotype (has variants included in the panel) Resolution...

POX - Overview: Fatty Acid Profile, Peroxisomal (C22-C26), Serum

Evaluating patients with possible peroxisomal disorders, single-enzyme defects of peroxisomal metabolism, such as X-linked adrenoleukodystrophy or peroxisomal biogenesis disorders (Zellweger syndrome spectrum) using serum specimens Aiding...

H2MT - Overview: HER2 Amplification, Miscellaneous Tumor, FISH, Tissue

Guiding cancer therapy, as patients with HER2 amplification may be candidates for therapies that target the human epidermal growth factor receptor 2 (HER2) protein (eg, trastuzumab [Herceptin], pertuzumab) Confirming the presence of HER2...

H2GE - Overview: HER2 Amplification Associated with Gastroesophageal Cancer, FISH, Tissue

A predictive marker for patients with both node-positive or node-negative primary and metastatic gastroesophageal cancer Guiding therapy for patients with primary or metastatic gastroesophageal tumors, as patients with HER2 amplification...