PSY - Overview: Psychosine, Blood Spot

Aids in the biochemical detection of Krabbe disease and saposin A cofactor deficiency Second-tier testing or follow up testing after an abnormal newborn screening result in an infant for Krabbe disease This test is not capable of...

PGDBS - Overview: Plasmalogens, Blood Spot

Diagnosing patients with possible peroxisomal disorders, such as peroxisomal biogenesis disorders (Zellweger syndrome spectrum) and rhizomelic chondrodysplasia punctata (RCDP), including fatty acyl-CoA reductase 1 (FAR1)...

ACASM - Overview: Pernicious Anemia Cascade, Serum

Diagnosis of pernicious anemia Diagnosis of vitamin B12 deficiency-associated neuropathy

HIAA - Overview: 5-Hydroxyindoleacetic Acid, 24 Hour, Urine

Biochemical diagnosis and monitoring of intestinal carcinoid syndrome using 24-hour urine specimens

HTG2 - Overview: Thyroglobulin, Tumor Marker, Serum

Follow-up of patients with differentiated thyroid cancers after thyroidectomy and radioactive iodine ablation

25HDN - Overview: 25-Hydroxyvitamin D2 and D3, Serum

Diagnosis of vitamin D deficiency Differential diagnosis of causes of rickets and osteomalacia Monitoring vitamin D replacement therapy Diagnosis of hypervitaminosis D

ARBOP - Overview: Arbovirus Antibody Panel, IgG and IgM, Serum

Aiding the diagnosis of arboviral encephalitis (California [LaCrosse], St. Louis, Eastern equine, and Western equine encephalitis)

MISCF - Overview: Miscellaneous Studies Using Chromosome-Specific Probes, FISH

Resolution of unusual or complex structural alterations, questionable mosaicism, and unbalanced chromosome abnormalities that cannot be resolved by chromosome or chromosomal microarray analysis Identifying gain, loss, or rearrangement of...

ENS2 - Overview: Encephalopathy, Autoimmune/Paraneoplastic Evaluation, Serum

Evaluating, using serum specimens, new onset encephalopathy (noninfectious or metabolic) comprising confusional states, psychosis, delirium, memory loss, hallucinations, movement disorders, sensory or motor complaints, seizures, dyssomnias,...

HBOCZ - Overview: BRCA1/BRCA2 Genes, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of hereditary breast and ovarian cancer (HBOC) syndrome Establishing a diagnosis of HBOC syndrome allowing for targeted cancer surveillance based on associated risks...