BA190 - Overview: BCR/ABL1, p190, mRNA Detection, Reverse Transcription-PCR (RT-PCR), Quantitative, Monitoring Assay, Varies

Monitoring response to therapy in patients with known e1/a2 BCR/ABL1 (p190) fusion forms

NSESF - Overview: Neuron-Specific Enolase (NSE), Spinal Fluid

An auxiliary test in the diagnosis of Creutzfeldt-Jakob disease An auxiliary test in the diagnosis of small cell lung carcinoma metastasis to central nervous system or leptomeninges

CDGN - Overview: Congenital Disorders of N-Glycosylation, Serum

Screening for N-linked congenital disorders of glycosylation Providing information on specific structural oligosaccharide abnormalities to potentially direct further genetic testing

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),...

TALDO - Overview: Polyols, Quantitative, Urine

Diagnosing deficiencies of transaldolase, transketolase, sedoheptulose, or ribose-5-phosphate isomerase

CHF8 - Overview: Chromogenic Factor VIII Activity Assay, Plasma

Monitoring coagulation factor replacement therapy of selected extended half-life coagulation factor replacements Aiding in the diagnosis of hemophilia A using a 2-stage assay, especially when the 1-stage assay result was normal

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

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...

KCSFP - Overview: Immunoglobulin Kappa Free Light Chain, Spinal Fluid

Diagnosis of multiple sclerosis and other demyelinating conditions

WGSDX - Overview: Whole Genome Sequencing for Hereditary Disorders, Varies

Serving as a first-tier test to identify a molecular diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory guidance, management...