CINP - Overview: Cortisol, Mass Spectrometry, Serum

Second-order testing when cortisol measurement by immunoassay (eg, CORT / Cortisol, Serum) gives results that are not consistent with clinical symptoms, or if patients are known to, or suspected of, taking exogenous synthetic steroids...

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...

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

ADNA1 - Overview: Double-Stranded DNA (dsDNA) Antibodies, IgG, Serum

Evaluating patients with clinical features or at-risk for systemic lupus erythematosus (SLE) Monitoring disease activity, as an adjunct test, in patients with SLE previously positive for double-stranded DNA IgG antibodies

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

LENT - Overview: Enterovirus, Molecular Detection, PCR, Varies

Aiding in diagnosing enterovirus infections This test should not be used to screen asymptomatic patients.

HFET - Overview: Hereditary Hemochromatosis, HFE Variant Analysis, Varies

Establishing or confirming the clinical diagnosis of hereditary hemochromatosis (HH) in adults Testing of individuals with increased transferrin-iron saturation in serum and serum ferritin Predictive testing of individuals who have a...

GALT - Overview: Galactose-1-Phosphate Uridyltransferase, Blood

Diagnosis of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia Confirmation of abnormal state newborn screening results

HBCRQ - Overview: Hepatitis B Virus Core-Related Antigen, Quantitative, Serum

Monitoring of response to antiviral therapy in individuals with chronic hepatitis B who are negative for hepatitis B e antigen (HBeAg), positive for hepatitis B e antibody, and undetectable or low hepatitis B virus DNA levels (eg, <500...

GALTP - Overview: Galactose-1-Phosphate Uridyltransferase Biochemical Phenotyping, Erythrocytes

Determining the biochemical phenotype for galactosemia when enzymatic and molecular results are incongruent