T4BPE - Overview: Thyroxine-Binding Protein Electrophoresis, Serum

Explaining unusual thyroxine (T4), free T4, and thyroxine-binding globulin test results that do not correlate with the patient's clinical presentation Detecting the presence of aberrant thyroxine-binding proteins, such as abnormal forms...

AIHL - Overview: Aminoglycoside-Induced Hearing Loss, Targeted Variant Testing, Droplet Digital PCR, Varies

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.

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...

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...

KRASD - Overview: Cell-Free DNA KRAS 12, 13, 61,146, Blood

An alternative to invasive tissue biopsies for the determination of KRAS 12, 13, 61,146 (G12A, G12C, G12D, G12R, G12S, G12V, G13D, Q61K, Q61L, Q61R, Q61H, and A146T) mutation status Detecting molecular markers associated with response or...

KRASP - Overview: KRAS Somatic Mutation Analysis, Tumor

Detecting molecular markers associated with response or resistance to specific cancer

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

NTRK - Overview: NTRK Gene Fusion Panel, Tumor

Identifying solid tumors that may respond to targeted therapies by simultaneously assessing for fusions involving targeted regions of the NTRK1, NTRK2, and NTRK3 genes resulting in fusion transcripts. This test is not useful for...

TFEBF - Overview: Renal Cell Carcinoma, 6p21.1 (TFEB) Rearrangement, FISH, Tissue

Identifying TFEB gene rearrangements in patients with renal cell carcinoma (RCC)

SCTF - Overview: Sex Chromosome Determination, FISH, Tissue

Identifying the sex chromosome complement in paraffin-embedded tissues

SERPZ - Overview: SERPINA1 Gene, Full Gene Analysis, Varies

Identification of causative mutations when a deficient serum level of alpha-1-antitrypsin is not explained by routine testing, such as proteotyping, genotyping, or isoelectric focusing phenotyping. Determining the specific allelic variant...

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

VHLE - Overview: VHL Gene, Erythrocytosis, Mutation Analysis, Varies

Diagnosis of suspected JAK2-negative VHL-related erythrocytosis associated with lifelong sustained increased RBC mass, elevated RBC count, hemoglobin, or hematocrit

VLCZ - Overview: Very Long Chain Acyl-CoA Dehydrogenase Deficiency, Full Gene Analysis, Varies

Confirmation of a diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency Carrier screening in cases where there is a family history of VLCAD deficiency, but an affected individual is not available for testing or...

FOXOF - Overview: Alveolar Rhabdomyosarcoma (ARMS), 13q14 (FOXO1 or FKHR) Rearrangement, FISH, Tissue

Supporting the diagnosis of alveolar rhabdomyosarcomas when used in 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

CULFB - Overview: Fibroblast Culture for Biochemical or Molecular Testing, Chorionic Villi/Products of Conception/Tissue

Producing cell cultures that can be used for enzymatic or molecular genetic analysis

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...

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

2B6Q - Overview: Cytochrome P450 2B6 Genotype, Varies

Aiding in determining therapeutic strategies for drugs that are metabolized by cytochrome P450 (CYP) 2B6 Providing information relevant to bupropion, efavirenz, ketamine, methadone, and nevirapine, as well as other medications metabolized...

1A2Q - Overview: Cytochrome P450 1A2 Genotype, Varies

Identifying individuals who are poor, intermediate, normal (extensive) or rapid metabolizers of drugs metabolized by cytochrome P450 1A2 to assist drug therapy decision making

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...

3A5Q - Overview: Cytochrome P450 3A5 Genotype, Varies

Aids in optimizing treatment with tacrolimus and other drugs metabolized by cytochrome P450 3A5

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...

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

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

FUSF - Overview: Low-Grade Fibromyxoid Sarcoma (LGFMS), 16p11.2 (FUS or TLS) Rearrangement, FISH, Tissue

Supporting the diagnosis of low-grade fibromyxoid sarcoma 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

MGMT - Overview: MGMT Promoter Methylation, Tumor

Prognostication of newly diagnosed patients with glioblastoma, IDH-wildtype Identifying newly diagnosed glioblastoma, IDH-wildtype patients that may respond to alkylating chemotherapy (ie, temozolomide) Guiding therapy decision making for...

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

SGTF - Overview: MYB (6q23) Rearrangement FISH, Tissue

Assessing for MYB gene rearrangements in patients with primary salivary gland carcinoma to aid in confirming or excluding the diagnosis of primary salivary gland adenoid cystic carcinomas

NADF - Overview: Newborn Aneuploidy Detection, FISH, Blood

Screening for chromosomal aneuploidies of chromosomes 13, 18, 21, X, and Y in newborn peripheral blood specimens

PDGF - Overview: PDGFB (22q13), Dermatofibrosarcoma Protuberans/Giant Cell Fibroblastoma, FISH, Tissue

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),...

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...

SLC1Q - Overview: Solute Carrier Organic Anion Transporter Family Member 1B1 (SLCO1B1) Genotype, Statin, Varies

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

USPF - Overview: USP6 (17p13), Aneurysmal Bone Cyst and Nodular Fasciitis, FISH, Tissue

Supporting the diagnosis of aneurysmal bone cyst or nodular fasciitis

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

TFE3F - Overview: Alveolar Soft Part Sarcoma (ASPS)/Renal Cell Carcinoma (RCC), Xp11.23 (TFE3), FISH, Tissue

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

3A4Q - Overview: Cytochrome P450 3A4 Genotype, Varies

Aids in determining therapeutic strategies for drugs that are metabolized by cytochrome P450 3A4, including atorvastatin, simvastatin, and lovastatin This test is not useful for managing patients receiving fluvastatin, rosuvastatin, or...

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

CELI - Overview: Celiac Associated HLA-DQ Alpha 1 and DQ Beta 1 DNA Typing, Blood

Assessing risk of celiac disease

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...