Test Catalog Search Results
BRCAT - Overview: BRCA1/2 Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the BRCA1 and BRCA2 genes known to be associated with response to PARP inhibitors and sensitivity to platinum-based therapy This test is not intended for the evaluation of patients suspected of having...
CTNBT - Overview: B-Catenin Mutation Analysis, Next-Generation Sequencing, Tumor
Distinguishing desmoid-type fibromatosis from other soft tissue tumors by assessing gene targets within the beta-catenin (CTNNB1) gene
An aid in the diagnosis of alveolar soft-part sarcoma or renal cell carcinoma variant when used in conjunction with an anatomic pathology consultation
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
DPYDZ - Overview: Dihydropyrimidine Dehydrogenase, DPYD Full Gene Sequencing, Varies
Identifying individuals at increased risk of toxicity when considering 5-fluorouracil and capecitabine chemotherapy treatment Identifying common and rare variants associated with decreased or absent dihydropyrimidine dehydrogenase (DPD)...
FGF1F - Overview: FGFR1 (8p11.2) Amplification, FISH, Tissue
Providing prognostic information and guiding treatment primarily for patients with squamous cell carcinoma of the lung, breast, esophagus, thymus, and other locations
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.
2C19R - Overview: Cytochrome P450 2C19 Genotype, Varies
Identifying patients who may be at risk for altered metabolism of drugs that are modified by cytochrome P450 2C19 Predicting anticoagulation response to clopidogrel
2C9QT - Overview: Cytochrome P450 2C9 Genotype, Varies
Identifying individuals who may be at risk for altered metabolism of drugs that are modified by cytochrome P450 2C9
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...
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
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
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...
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
BRMLH - Overview: MLH1 Hypermethylation and BRAF Mutation Analysis, Tumor
An adjunct to MSI / Microsatellite Instability (MSI), Tumor and IHC / Mismatch Repair (MMR) Protein Immunohistochemistry Only, Tumor testing, when colon tumor demonstrates microsatellite instability (MSI-H) and loss of MLH1 protein...
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...
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
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
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...
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
C9ORF - Overview: C9orf72 Hexanucleotide Repeat, Molecular Analysis, Varies
Molecular confirmation of clinically suspected cases of c9FTD/ALS, frontotemporal dementia (FTD), or amyotrophic lateral sclerosis (ALS) Presymptomatic testing for individuals with a family history of c9FTD/ALS and a documented expansion...
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...
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
Establishing diagnosis and identifying targeted therapies for patients with gastrointestinal stromal tumors Assessing microsatellite instability
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
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...
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...