AMP - Overview: Ampicillin, IgE, Serum

Establishing a diagnosis of an allergy to ampicillin Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response and/or anaphylactic episode -To confirm sensitization...

CARU - Overview: Cyclic Adenosine Monophosphate (cAMP), Urinary Excretion, Serum and Urine

Differential diagnosis of hypercalcemia As an adjunct to serum parathyroid hormone measurements, especially in the diagnosis of parathyroid hormone resistance states, such as pseudohypoparathyroidism

FGF1F - Overview: FGFR1 (8p11.2) Amplification, FISH, Tissue

Providing prognostic information and guiding treatment primarily for patients with squamous cell carcinoma of the lung, breast, esophagus, thymus, and other locations

PRKSG - Overview: PRKAR1A Full Gene Sequencing with Deletion/Duplication, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Carney Complex (CNC) or acrodysostosis-1 with hormone resistance Establishing a diagnosis of CNC or acrodysostosis-1 with hormone resistance

MDM2F - Overview: MDM2 (12q15) Amplification, Well-Differentiated Liposarcoma/Atypical Lipomatous Tumor, FISH, Tissue

Identifying MDM2 amplification Supporting the diagnosis of many neoplasms, including, but not limited to, well-differentiated liposarcoma, atypical lipomatous tumor, dedifferentiated liposarcoma, parosteal osteosarcoma and central...

DMITO - Overview: Mitochondrial DNA Deletion Heteroplasmy, ddPCR, Varies

Assessing the heteroplasmy level of previously detected large mitochondrial DNA (mtDNA) deletions. Screening family members for previously detected large mtDNA deletions. This test is not recommended for first tier diagnostic testing...

AKC - Overview: Adenylate Kinase Enzyme Activity, Blood

Assessment of adenylate kinase activity as part of the evaluation of chronic nonspherocytic hemolytic anemia

AK1 - Overview: Adenylate Kinase Enzyme Activity, Blood

Evaluation of chronic nonspherocytic hemolytic anemia

MITOP - Overview: Mitochondrial Full Genome Analysis, Next-Generation Sequencing (NGS), Varies

Diagnosis of the subset of mitochondrial diseases that results from variants in the mitochondrial genome A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...

AHLP - Overview: AudioloGene Hearing Loss Panel, Varies

Establishing a diagnosis of a syndromic or nonsyndromic hereditary hearing loss disorder Identifying variants within genes known to be associated with hereditary hearing loss, allowing for predictive testing of at-risk family members