ASMW - Overview: Acid Sphingomyelinase, Leukocytes

Investigation of possible diagnosis of Niemann-Pick disease types A and B This test is not recommended for carrier detection because of the wide range of enzymatic activities observed in carriers and noncarriers.

GAAW - Overview: Acid Alpha-Glucosidase, Leukocytes

Diagnosis of Pompe disease

AH50 - Overview: Alternative Complement Pathway, Functional, Serum

Investigation of suspected alternative pathway complement deficiency, atypical hemolytic uremic syndrome, C3 glomerulonephritis, and dense-deposit disease

ALADW - Overview: Aminolevulinic Acid Dehydratase, Washed Erythrocytes

Confirmation of a diagnosis of aminolevulinic acid dehydratase deficiency porphyria using washed erythrocyte specimens This test is not useful for detecting lead intoxication.

AIHL - Overview: Aminoglycoside-Induced Hearing Loss, Targeted Variant Testing, Droplet Digital PCR, Varies

Identification of individuals who may be at risk for aminoglycoside-induced hearing loss (AIHL) Establishing a diagnosis of late-onset sensorineural hearing loss associated with aminoglycoside exposure Identifying mitochondrial variants...

ARSBW - Overview: Arylsulfatase B, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) in whole blood specimens This test is not useful for carrier detection.

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...

GUSBB - Overview: Beta-Glucuronidase, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidosis VII (MPS VII, Sly syndrome) This test is not useful for determining carrier status for MPS VII.

KRASD - Overview: Cell-Free DNA KRAS 12, 13, 61,146, Blood

An alternative to invasive tissue biopsies for the determination of KRAS 12, 13, 61,146 (G12A, G12C, G12D, G12R, G12S, G12V, G13D, Q61K, Q61L, Q61R, Q61H, and A146T) mutation status Detecting molecular markers associated with response or...

FRDIG - Overview: Digoxin, Free, Serum

Evaluating recrudescent (breakthrough) digoxin toxicity in renal-failure patients Assessing the need for more antidigoxin Fab to be administered Deciding when to reintroduce digoxin therapy Monitoring patients with possible...