POX - Overview: Fatty Acid Profile, Peroxisomal (C22-C26), Serum

Evaluating patients with possible peroxisomal disorders, single-enzyme defects of peroxisomal metabolism, such as X-linked adrenoleukodystrophy or peroxisomal biogenesis disorders (Zellweger syndrome spectrum) using serum specimens Aiding...

MAC1 - Overview: Myelopathy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid

Evaluating patients with suspected autoimmune myelopathy, myelitis, and paraneoplastic myelopathy using spinal fluid specimens

MAS1 - Overview: Myelopathy, Autoimmune/Paraneoplastic Evaluation, Serum

Evaluating patients with suspected autoimmune myelopathy, myelitis, and paraneoplastic myelopathy using serum specimens

PCDEC - Overview: Pediatric Autoimmune Encephalopathy/CNS Disorder Evaluation, Spinal Fluid

Evaluating children with autoimmune central nervous system disorders using spinal fluid specimens

AATTA - Overview: Antithrombin Summary Interpretation

Diagnosis of antithrombin deficiency, acquired or congenital Monitoring treatment of antithrombin deficiency disorders, including infusion of antithrombin therapeutic concentrate

2425D - Overview: 25-Hydroxyvitamin D:24,25-Dihydroxyvitamin D Ratio, Serum

As a screening test for inactivating CYP24A1 variants in patients with symptoms, signs, or biochemical findings of parathyroid hormone-independent hypercalcemia or hypercalciuria

ALPSG - Overview: Autoimmune Lymphoproliferative Syndrome (ALPS) Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of autoimmune lymphoproliferative syndrome (ALPS) or related disorders Establishing a diagnosis of ALPS or a related disorder, allowing...

SZMON - Overview: Sezary Monitoring Flow Cytometry, Blood

Monitoring response to therapy in patients with previously diagnosed Sezary syndrome or mycosis fungoides

GALCW - Overview: Galactocerebrosidase, Leukocytes

Diagnosis of Krabbe disease Follow-up testing for evaluation of an abnormal newborn screening result for Krabbe disease This test is not intended for carrier detection.

PCDES - Overview: Pediatric Autoimmune Encephalopathy/CNS Disorder Evaluation, Serum

Evaluating children with autoimmune central nervous system disorders using serum specimens

EPC2 - Overview: Epilepsy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid

Investigating new onset cryptogenic epilepsy with incomplete seizure control and duration of fewer than 2 years using spinal fluid specimens Investigating new onset cryptogenic epilepsy plus 1 or more of the following...

COMTQ - Overview: Catechol-O-Methyltransferase (COMT) Genotype, Varies

Prediction of response to nicotine replacement therapy for smoking cessation Investigation of inhibitor dosing for decreasing levodopa metabolism Research use for assessing estrogen metabolism

HEXBZ - Overview: Sandhoff Disease, HEXB Gene, Full Gene Analysis, Varies

Follow up for abnormal biochemical results suggestive of Sandhoff disease Establishing a molecular diagnosis for patients with Sandhoff disease Identifying variants within genes known to be associated with Sandhoff disease, allowing for...

EPS2 - Overview: Epilepsy, Autoimmune/Paraneoplastic Evaluation, Serum

Investigating new onset cryptogenic epilepsy with incomplete seizure control and duration of less than 2 years, using serum specimens Investigating new onset cryptogenic epilepsy plus 1 or more of the following accompaniments: -Psychiatric...

PAVAL - Overview: Paraneoplastic, Autoantibody Evaluation, Serum

Serological evaluation of patients who present with a subacute neurological disorder of undetermined etiology, especially those with known risk factors for cancer Directing a focused search for cancer Investigating neurological symptoms...

AAMSD - Overview: Amino Acids, Maple Syrup Urine Disease Panel, Plasma

Follow-up of patients with maple syrup urine disease Monitoring of dietary compliance for patients with maple syrup urine disease

SZDIA - Overview: Sezary Diagnostic Flow Cytometry, Blood

Identifying immunophenotypically aberrant T-cell populations with restricted expression of T-cell receptor beta-chain constant in peripheral blood, to roughly assess the circulating tumor burden in cutaneous T-cell lymphomas

SCIDP - Overview: Severe Combined Immunodeficiency (SCID) Gene Panel, Varies

Establishing a diagnosis of a severe combined immunodeficiency (SCID) associated with known causal genes Identifying variants within genes known to be associated with SCID, allowing for predictive testing of at-risk family members and/or...

GMCSF - Overview: Granulocyte Monocyte-Colony Stimulating Factor, Plasma

Measuring the concentration of granulocyte macrophage-colony stimulating factor (GM-CSF) in plasma Understanding the etiology of chronic inflammatory diseases or infections, when used in conjunction with clinical information and other...

FBSQU - Overview: Bath Salts Panel (Qualitative), Urine

Bath Salts Panel (Qualitative), Urine

LLPT - Overview: Leukemia/Lymphoma Immunophenotyping, Flow Cytometry, Tissue

Evaluation of tissues for potential involvement by: -Chronic lymphoproliferative disorders -Malignant lymphomas -Acute lymphoblastic leukemia -Acute myelogenous leukemia

CTXP - Overview: Cerebrotendinous Xanthomatosis, Plasma

Evaluating patients with a clinical suspicion of cerebrotendinous xanthomatosis (CTX) using plasma specimens Monitoring of individuals with CTX on chenodeoxycholic acid (CDCA) therapy This test is not useful for the identification of...

HCCGS - Overview: Hepatocellular Carcinoma Risk Panel with GALAD Score, Serum

Risk assessment for development of hepatocellular carcinoma in patients with chronic liver disease

CYPAN - Overview: Cytokine Panel, Plasma

Understanding the etiology of infectious or chronic inflammatory diseases, when used in conjunction with clinical information and other laboratory testing Research studies in which an assessment of cytokine responses is needed

TBSU - Overview: Targeted Benzodiazepine Screen, Random, Urine

Determining compliance or identifying illicit benzodiazepine drug use This test is not intended for employment-related testing.

FBCQ - Overview: Benzodiazepine Confirmation, Urine

Benzodiazepine Confirmation, Urine

AACSF - Overview: Amino Acids, Quantitative, Spinal Fluid

Evaluating patients with possible inborn errors of amino acid metabolism, particularly nonketotic hyperglycinemia (glycine encephalopathy) and serine biosynthesis defects, especially when used in conjunction with concomitantly collected...

SPAGR - Overview: Special Red Cell Antigen Typing, Whole Blood

Additional proof of alloantibody specificity Determining possible antibody specificities in complex cases This test is not useful for the purpose of establishing paternity

CTXWB - Overview: Cerebrotendinous Xanthomatosis, Blood

Evaluating patients with a clinical suspicion of cerebrotendinous xanthomatosis (CTX) Monitoring of individuals with CTX on chenodeoxycholic acid (CDCA) therapy This test is not useful for the identification of carriers. This test is...

NAT2Q - Overview: N-Acetyltransferase 2 (NAT2) Genotype, Varies

Identifying patients who may be at risk for altered metabolism of drugs that are substrates of arylamine N-acetyltransferase type 2, including isoniazid

AAPD - Overview: Amino Acids, Quantitative, Random, Urine

Evaluating patients with possible inborn errors of metabolism using random urine specimens May aid in evaluation of endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional...

CTXBS - Overview: Cerebrotendinous Xanthomatosis, Blood Spot

Evaluating patients with a clinical suspicion of cerebrotendinous xanthomatosis (CTX) using dried blood spot specimens Monitoring individuals with CTX on chenodeoxycholic acid (CDCA) therapy This test is not useful for the...

PST - Overview: Protein S Antigen, Total, Plasma

Aiding in the investigation of patients with a history of thrombosis

IEICP - Overview: Inborn Errors of Immunity Comprehensive Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal history of an inborn error of immunity (IEI) Establishing a diagnosis of an IEI associated with known causal genes Identifying variants within genes known to be...

BNZU - Overview: Benzodiazepines Confirmation, Random, Urine

Detecting drug use involving benzodiazepines such as alprazolam, chlordiazepoxide, clonazepam, diazepam, midazolam, oxazepam, temazepam, clobazam, flunitrazepam, flurazepam, lorazepam, prazepam, triazolam, and zolpidem

LGBWB - Overview: Globotriaosylsphingosine, Blood

Screening of patients with Fabry disease when a serum specimen is not available This test should not be used for newborn screening followup.

LGB3S - Overview: Globotriaosylsphingosine, Serum

Diagnosis and monitoring of Fabry disease

TABSU - Overview: Targeted Benzodiazepine Screen, Random, Urine

Qualitatively (present vs not detected) identifying 27 benzodiazepine compounds (parent drug and metabolites) in urine to help determine compliance or identify illicit benzodiazepine drug use This test is not intended for...

BNZX - Overview: Benzodiazepines Confirmation, Chain of Custody, Random, Urine

Detecting drug use involving benzodiazepines such as alprazolam, chlordiazepoxide, clonazepam, diazepam, midazolam, oxazepam, temazepam, clobazam, flunitrazepam, flurazepam, lorazepam, prazepam, triazolam, and zolpidem, in urine specimens...

MALP - Overview: Malabsorption Evaluation Panel, Feces

Evaluation of patients with suspected malabsorption, as suggested by chronic diarrhea, unexplained weight loss, or nutritional deficiencies Differentiation between causes of malabsorption, specifically inflammatory conditions, pancreatic...

MP9W - Overview: Mucopolysaccharidoses, Nine-Enzyme Panel, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidoses types II, IIIA, IIIB, IIIC, IIID, IVA, IVB, VI, and VII, and of multiple sulfatase deficiency This test is not useful for carrier detection.

AMISO - Overview: Amylase, Isoenzymes, Serum

Ruling out salivary amylase as the cause of elevated serum amylase

PTEM - Overview: Platelet Transmission Electron Microscopic Study, Whole Blood

Diagnosing platelet disorders

LGBBS - Overview: Globotriaosylsphingosine, Blood Spot

Screening of patients with Fabry disease using dried blood spots when a serum specimen is not available This test should not be used for newborn screening followup.

PGXQP - Overview: Focused Pharmacogenomics Panel, Varies

Preemptive or reactive genotyping of patients for pharmacogenomic purposes Providing an assessment for genes with strong drug-gene associations Assisting in the management of patients with complex medication regimens

21DOC - Overview: 21-Deoxycortisol, Serum

As an adjunct to measurement of 17-hydroxyprogesterone, androstenedione, and cortisol in the diagnosis of difficult cases of suspected 21-hydroxylase (CYP21A2) deficiency Identifying heterozygote CYP21A2 deficiency carriers As an adjunct...

ADALP - Overview: Adalimumab Quantitative with Antibody, Serum

Therapeutic drug monitoring of adalimumab concentration and antibody levels

LALB - Overview: Lysosomal Acid Lipase, Blood

Evaluation of patients with a clinical presentation suggestive of lysosomal acid lipase deficiency using blood specimens This test is not useful to determine carrier status for cholesteryl ester storage disease or Wolman disease.

MP8BS - Overview: Mucopolysaccharidoses, Eight-Enzyme Panel, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidoses types II, IIIA, IIIB, IIIC, IVA, IVB, VI, and VII, and of multiple sulfatase deficiency This test is not useful for carrier detection.

VITAE - Overview: Vitamin A and Vitamin E, Serum

Diagnosing vitamin A deficiency and toxicity Evaluating persons with intestinal malabsorption of lipids Monitoring of Vitamin E supplementation/treatment