RPDE - Overview: Rapidly Progressive Dementia Evaluation, Spinal Fluid

Evaluation of individuals presenting with rapidly progressive dementia of uncertain disease etiology and a differential diagnosis of Creutzfeldt-Jakob disease and rapidly progressive Alzheimer disease

NHHA - Overview: Hereditary Hemolytic Anemia Gene Panel, Next-Generation Sequencing, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary hemolytic anemias, including red blood cell (RBC) membrane/hydration disorders, RBC enzymopathies, and congenital...

2OHGP - Overview: 2-Hydroxyglutaric Aciduria Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of 2-hydroxyglutaric aciduria Establishing a molecular diagnosis for patients with 2-hydroxyglutaric aciduria Identifying variants within genes known to be associated with...

FRBP - Overview: Retinol Binding Protein

Retinol Binding Protein

FCDU2 - Overview: Benzodiazepines, Umbilical Cord Tissue

Benzodiazepines, Umbilical Cord Tissue

C1Q - Overview: Complement C1q, Serum

Assessment of an undetectable total complement level Diagnosing congenital C1 (first component of complement) deficiency Diagnosing acquired deficiency of C1 inhibitor

THSIF - Overview: Thrombospondin Type 1 Domain Containing 7A (THSD7A), Immunofluorescence

Diagnosis of thrombospondin type 1 domain-containing 7A (THSD7A)-associated membranous nephropathy

TMP - Overview: Trimethoprim, Serum

Monitoring trimethoprim therapy to ensure drug absorption, clearance, or compliance

HEVM - Overview: Hepatitis E Virus IgM Antibody Screen with Reflex to Confirmation, Serum

Diagnosis of acute or recent (<6 months) hepatitis E infection

SUAC - Overview: Succinylacetone, Blood Spot

Second-tier newborn screen for tyrosinemia type 1 (HT-1) when primary screen showed nonspecific elevations of tyrosine Diagnosing HT-1 when used in conjunction with testing for urine organic acids, liver function, alpha-fetoprotein, and...