GALP - Overview: Galactose, Quantitative, Plasma

Screening for galactosemia

FFRWB - Overview: Friedreich Ataxia, Frataxin, Quantitative, Blood

Diagnosing individuals with Friedreich ataxia in whole blood specimens Monitoring frataxin levels in patients with Friedreich ataxia This test is not useful for carrier detection.

2SC - Overview: S-(2-Succinyl)-Cysteine (2SC) Immunostain, Technical Component Only

Identification of high levels of aberrant S-(2-succino)-cysteine (2SC), secondary to pathogenic alterations of the fumarate hydratase (FH) gene

PBGU - Overview: Porphobilinogen, Quantitative, Random, Urine

First-order test for evaluating a suspected acute porphyria: acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria

PPFE - Overview: Protoporphyrins, Fractionation, Whole Blood

Evaluating patients with possible diagnoses of erythropoietic protoporphyria or X-linked dominant protoporphyria Establishing a biochemical diagnosis of erythropoietic protoporphyria and X-linked dominant protoporphyria

TIUCR - Overview: Titanium/Creatinine Ratio, Random, Urine

Monitoring exposure and elimination of titanium

NGAMT - Overview: MayoComplete Acute Myeloid Leukemia, Therapeutic Gene Mutation Panel (FLT3, IDH1, IDH2, TP53), Next-Generation Sequencing, Varies

Evaluation of acute myeloid leukemia using a focused 4-gene panel at the time of diagnosis, or possibly relapsed or refractory disease, to help guide possible therapeutic approaches

ARVGG - Overview: Arrhythmogenic Cardiomyopathy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of arrhythmogenic cardiomyopathy Establishing a diagnosis of a hereditary form of arrhythmogenic cardiomyopathy

NGSFX - Overview: Reanalysis of Acute Myeloid Leukemia 4- or 11- Gene Panels, Additional Genes

Comprehensive reanalysis of a larger set of genes/gene regions when a more targeted gene panel was previously performed in this laboratory Evaluation of known or suspected hematologic neoplasms, specifically of myeloid origin (eg, acute...

AAUCD - Overview: Amino Acids, Urea Cycle Disorders Panel, Plasma

Follow-up of patients with urea cycle disorders