PDBS - Overview: Pompe Disease, Blood Spot
Evaluating patients with a clinical presentation suggestive of Pompe disease (muscle hypotonia, weakness, or cardiomyopathy) outside of the newborn screening setting
ADNAS - Overview: Anti-DNase B Titer, Serum
Demonstration of acute or recent streptococcal infection using anti-DNase B titer
ANST - Overview: Androstenedione, Serum
Diagnosis and differential diagnosis of hyperandrogenism, in conjunction with measurements of other sex steroids Diagnosis of congenital adrenal hyperplasia (CAH), in conjunction with measurement of other androgenic precursors,...
C4 - Overview: Complement C4, Serum
Investigating an undetectable total complement (CH50) Confirming hereditary angioedema (with low C1 inhibitor) Assessing disease activity in systemic lupus erythematosus, proliferative glomerulonephritis, rheumatoid arthritis, and...
SCOC - Overview: Coccidioides Antibody, Complement Fixation and Immunodiffusion, Serum
Diagnosis of coccidioidomycosis using serum specimens
BHYD - Overview: Beta-Hydroxybutyrate, Serum
Monitoring therapy for diabetic ketoacidosis Investigating the differential diagnosis of any patient presenting to the emergency room with hypoglycemia, acidosis, suspected alcohol ingestion, or an unexplained increase in the anion gap...
HGH - Overview: Growth Hormone, Serum
Diagnosis of acromegaly and assessment of treatment efficacy when interpreted in conjunction with results from glucose suppression test Diagnosis of human growth hormone deficiency when interpreted in conjunction with results from growth...
As part of the diagnosis and workup of precocious and delayed puberty in females and, to a lesser degree, males As part of the diagnosis and workup of suspected disorders of sex steroid metabolism (eg, aromatase deficiency and 17...
MFRGG - Overview: Marfan, Loeys-Dietz, and Aortopathy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Marfan syndrome and related conditions Establishing a diagnosis for Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome,...
PLPMA - Overview: Prolactin, Pituitary Macroadenoma, Serum
Quantifying prolactin in serum specimens where the high-dose hook effect is suspected (eg, presence of pituitary tumor with symptoms of prolactinoma, and lower than expected serum prolactin concentration)