Test Catalog Search Results

SFIGS - Overview: IgG, Serum

Aiding in the diagnosis of multiple sclerosis and other central nervous system inflammatory conditions as a part of a profile

NAGS - Overview: Hexosaminidase A and Total Hexosaminidase, Serum

Carrier detection and diagnosis of Tay-Sachs disease and Sandhoff disease Ruling out I-cell disease This test is not useful for pregnant females or those treated with hormonal contraception.

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...

EPOR - Overview: Erythropoietin Receptor (EPOR) Gene, Exon 8 Sequencing, Whole Blood

Assessing EPOR in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit

CRDPU - Overview: Creatine Disorders Panel, Random, Urine

Evaluating patients with a clinical suspicion of arginine:glycine amidinotransferase deficiency, guanidinoacetate methyltransferase deficiency, and creatine transporter (SLC6A8) defect

PRSSZ - Overview: PRSS1 Gene, Full Gene Analysis, Varies

Confirmation of suspected clinical diagnosis of hereditary pancreatitis (HP) in patients with chronic pancreatitis Identification of familial PRSSI mutation to allow for predictive and diagnostic testing in family members

SPSA - Overview: Prostate-Specific Antigen (PSA) Screen, Serum

As a screening aid in the detection of prostate cancer when used in conjunction with a digital rectal exam in men 50 years or older Screening to aid in the prognosis and management of individuals diagnosed with prostate cancer

PADF - Overview: Prenatal Aneuploidy Detection, FISH

Screening for chromosomal aneuploidies of chromosomes 13, 18, 21, X, and Y in prenatal specimens

PFAPC - Overview: Fatty Acid Profile, Comprehensive (C8-C26), Plasma

Monitoring patients undergoing diet therapy for mitochondrial or peroxisomal disorders (possibly inducing essential fatty acid deficiency in response to restricted fat intake) using plasma specimens Monitoring treatment of essential fatty...