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

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

HGEM - Overview: Hydroxyglutaric Acids, Glutaric Acid, Ethylmalonic Acid, and Methylsuccinic Acid, Blood Spot

Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using dried blood spot specimens Evaluation of patients with abnormal newborn screens showing elevations of C4-acylcarnitine to aid in...

SDHMP - Overview: SDH Genes Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the SDHA, SDHB, SDHC, and SDHD genes to assist in tumor diagnosis/classification, including pheochromocytoma/paraganglioma, renal cell carcinoma, and pituitary adenoma

OXYBS - Overview: Oxysterols, Blood Spot

Investigating a possible diagnosis of Niemann-Pick disease types A, B, or C using blood spot specimens Monitoring of individuals with Niemann-Pick disease type C This test is not useful for the identification of carriers.

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

PLFA - Overview: Cryptococcus Antigen Screen, Lateral Flow Assay, Pleural Fluid

Diagnosis of infection with Cryptococcus species

LDBF - Overview: Lactate Dehydrogenase (LDH), Body Fluid

Identification of exudative pleural effusions Lactate dehydrogenase in pericardial fluids is not diagnostically useful.

LYME - Overview: Lyme Disease Serology, Serum

Diagnosing Lyme disease This test should not be used as a screening procedure for the general population. This test should not be used for treatment monitoring.

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...