AVWPR - Overview: von Willebrand Disease Profile, Plasma

Detection of deficiency or abnormality of von Willebrand factor (VWF) and related deficiency of factor VIII coagulant activity Subtyping von Willebrand disease (VWD) as type 1 (most common), type 2 variants (less common), or type 3...

SCCNP - Overview: Severe Congenital and Cyclic Neutropenia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of severe congenital neutropenia and/or cyclic neutropenia Establishing a diagnosis of an inherited congenital neutropenia and, in some cases,...

PCGP - Overview: Porphyria Comprehensive Gene Panel, Varies

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

IGFGP - Overview: Insulin-Like Growth Factor 1 and Insulin-Like Growth Factor-Binding Protein 3 Growth Panel, Serum

Diagnosing growth disorders Diagnosing adult growth hormone deficiency Monitoring of recombinant human growth hormone treatment Insulin-like growth factor binding protein 3 can be used as a possible adjunct to insulin-like growth...

AMPHU - Overview: Amphetamines Confirmation, Random, Urine

Confirming drug exposure involving amphetamines such as amphetamine and methamphetamine, phentermine, pseudoephedrine/ephedrine, methylenedioxyamphetamine (MDA), and methylenedioxymethamphetamine (MDMA)

ALPI - Overview: Alkaline Phosphatase Isoenzymes, Serum

Aid in the diagnosis and treatment of liver, bone, intestinal, and parathyroid diseases Determining the tissue source of increased alkaline phosphatase (ALP) activity in serum Differentiating between liver and bone sources of elevated...

CDKPB - Overview: CD68 (KP1) Immunostain, Bone Marrow, Technical Component Only

Aiding in the identification of histocytic and myeloid lineage cells

BUPM - Overview: Buprenorphine and Norbuprenorphine, Random, Urine

Monitoring of compliance utilizing buprenorphine Detection and confirmation of the illicit use of buprenorphine

GBM - Overview: Glomerular Basement Membrane Antibodies, IgG, Serum

Evaluating patients with clinical features of anti-glomerular basement disease, including rapidly progressive glomerulonephritis or pulmonary hemorrhage

KRT34 - Overview: Keratin (34BE12) Immunostain, Technical Component Only

Identification of cells expressing high-molecular-weight cytokeratin

IRON - Overview: Iron, Serum

Aiding in the evaluation of iron deficiency and iron overload diseases in combination with total iron binding capacity and percent saturation Assessment of acute iron poisoning

GENRA - Overview: Gentamicin, Random, Serum

Monitoring adequacy of serum concentration during gentamicin therapy in specimens for which no collection timing information is provided

MEF2B - Overview: Myocyte Enhancer Factor 2 (MEF2B) Immunostain, Technical Component Only

Lymphoma classification

MCRPL - Overview: Macroprolactin, Serum

Determining biologically active levels of prolactin, in asymptomatic patients with elevated prolactin levels Ruling out the presence of macroprolactin

TALPF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Pediatric, Varies

Detecting, at diagnosis, recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) in pediatric/young adult patients As an adjunct to conventional chromosome studies in pediatric/young...

BRGYP - Overview: Hereditary Breast/Gynecologic Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary breast or gynecological cancer syndrome Establishing a diagnosis of a hereditary breast or gynecological cancer syndrome allowing for targeted cancer...

RFSGS - Overview: Focal Segmental Glomerulosclerosis (FSGS) and Nephrotic Syndrome Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history of steroid resistant nephrotic syndrome (SRNS) Establishing a diagnosis of hereditary SRNS Guiding treatment decisions in individuals with nephrotic syndrome

ALKOT - Overview: Anaplastic Lymphoma Kinase (ALK [OTI1A4]) Immunostain, Technical Component Only

Identification of anaplastic lymphoma kinase overexpression Diagnosis of inflammatory myofibroblastic tumor and anaplastic large cell lymphoma

CERS - Overview: Ceruloplasmin, Serum

Investigation of patients with possible Wilson disease

BUPMX - Overview: Buprenorphine and Norbuprenorphine, Chain of Custody, Random, Urine

Monitoring of compliance of buprenorphine therapy Detection and confirmation of the illicit use of buprenorphine Chain of custody is required whenever the results of testing could be used in a court of law. Its purpose is to protect the...

NEUD1 - Overview: Neuronal Differentiation 1 (NeuroD1), Technical Component only

Subclassification of small cell lung carcinoma

LDALD - Overview: Lysosomal and Peroxisomal Disorders Newborn Screen, Blood Spot

First-tier newborn screen for the lysosomal disorders: Fabry, Gaucher, Krabbe, mucopolysaccharidosis I (MPS I) and II (MPS II), infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency, and Pompe (glycogen storage...

QUAD1 - Overview: Quad Screen (Second Trimester) Maternal, Serum

Prenatal screening for open neural tube defect (alpha-fetoprotein only), trisomy 21 (alpha-fetoprotein, human chorionic gonadotropin, estriol, and inhibin A) and trisomy 18 (alpha-fetoprotein, human chorionic gonadotropin, and estriol)

AMPHX - Overview: Amphetamines Confirmation, Chain of Custody, Random, Urine

Confirming drug exposure involving amphetamines such as amphetamine and methamphetamine, phentermine, pseudoephedrine/ephedrine, methylenedioxymethamphetamine, and methylenedioxyamphetamine. Providing chain-of-custody for when the results...

LRBA - Overview: Lipopolysaccharide-Responsive Beige-Like Anchor Protein (LRBA) Deficiency, Blood

Aiding in the diagnosis of lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency This test is not useful for identifying a carrier status for LRBA deficiency.

JAKXM - Overview: JAK2 Exon 12 and Other Non-V617F Mutation Detection, Bone Marrow

Second-order testing to aid in the distinction between a reactive cytosis and a myeloproliferative neoplasm, particularly when a diagnosis of polycythemia is being entertained; for use with bone marrow specimens

SM - Overview: Smith (Sm) Antibodies, IgG, Serum

Evaluating patients with clinical features suggestive of antinuclear antibody associated connective tissue disease and the confirmation of a diagnosis of systemic lupus erythematosus. Testing for Smith antibodies is not useful in patients...

CRCGP - Overview: Hereditary Gastrointestinal Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary gastrointestinal cancer or hereditary polyposis syndrome Establishing a diagnosis of a hereditary gastrointestinal cancer syndrome or hereditary polyposis...

RABMP - Overview: Inherited Rhabdomyolysis and Metabolic Myopathy Panel, Varies

Establishing a molecular diagnosis for patients with rhabdomyolysis and metabolic myopathy Identifying variants within genes known to be associated with rhabdomyolysis and metabolic myopathy, allowing for predictive testing of at-risk...

BRTP - Overview: Rapid Hereditary Breast Cancer Treatment Decision Panel, Varies

Establishing a diagnosis of a hereditary breast cancer syndrome allowing for surgical and management decision making Determining therapeutic eligibility with poly (adenosine diphosphate-ribose) polymerase inhibitors based on certain gene...

VHLE - Overview: VHL Gene, Erythrocytosis, Mutation Analysis, Varies

Diagnosis of suspected JAK2-negative VHL-related erythrocytosis associated with lifelong sustained increased RBC mass, elevated RBC count, hemoglobin, or hematocrit

BAPS - Overview: Bile Acid Profile, Serum

Evaluating the enterohepatic cycle consisting of the biliary system, intestine, portal circulation, and hepatocytes Supporting researchers in need of free and conjugated values of all 20 bile acid species as well as total bile acid

RIB - Overview: Ribosome P Antibodies, IgG, Serum

As an adjunct in the diagnostic evaluation of patients with systemic lupus erythematosus (SLE) May be useful in the phenotypic stratification of SLE patients at risk for neuropsychiatric SLE, lupus nephritis and/or hepatitis

PAI1 - Overview: Plasminogen Activator Inhibitor Antigen, Plasma

Identification of heredity elevation or deficiency of plasminogen activator inhibitor type 1 Determination of risk for veno-occlusive disease associated with bone marrow transplantation Differential diagnosis of impaired fibrinolysis...

LSD6W - Overview: Lysosomal Storage Disorders, Six-Enzyme Panel, Leukocytes

Diagnosis of the lysosomal storage disorders: Fabry (in male patients), Gaucher, Krabbe, mucopolysaccharidosis I (MPS I), acid sphingomyelinase deficiency (Niemann-Pick types A and B), and Pompe (glycogen storage disorder type II) This...

PMMIL - Overview: Phosphomannomutase and Phosphomannose Isomerase, Leukocytes

Diagnosing congenital disorders of glycosylation Ia (phosphomannomutase-2 deficiency: PMM2-CDG) and Ib (phosphomannose isomerase deficiency: MPI-CDG) as measured in leukocytes Follow-up testing for patients with an abnormal type I CDG...

ARSAB - Overview: Arylsulfatase A, Blood Spot

Enzymatic test for detection of arylsulfatase A deficiency This test is not suitable for carrier detection.

AAQP - Overview: Amino Acids, Quantitative, Plasma

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

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...

SNS - Overview: Supplemental Newborn Screen, Blood Spot

Presymptomatic identification of disorders to allow for early initiation of treatment and consequent improvement in the long-term prognosis of affected patients The conditions identifiable by amino acid and acylcarnitine analysis are...

FFCAH - Overview: Congenital Adrenal Hyperplasia (CAH) Pediatric Profile 6, Comprehensive Screen

Congenital Adrenal Hyperplasia (CAH) Pediatric Profile 6, Comprehensive Screen

RETB - Overview: Reticulocyte Profile, Blood

Assessing erythropoietic bone marrow activity in anemia and other hematologic conditions Assessment of acute iron deficiency Monitoring early response to iron therapy or erythropoiesis-stimulating agents Early monitoring of therapy for...

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...

TBSU - Overview: Targeted Benzodiazepine Screen, Random, Urine

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

LDAI - Overview: Progentec aiSLE DX Lupus Disease Activity Index, Plasma

Aiding in the assessment of current systemic lupus erythematosus disease activity when used in conjunction with standard clinical assessment

PHI11 - Overview: Prostate Health Index Reflex, Serum

As an aid in distinguishing prostate cancer from benign prostatic conditions in men aged 50 years and older with total PSA between 4.0 and 10.0 ng/mL and digital rectal examination findings that are not suspicious for cancer

CARBG - Overview: Carbamazepine-10,11-Epoxide, Serum

Monitoring patients exhibiting symptoms of carbamazepine toxicity whose total serum carbamazepine concentration is within the therapeutic range, but who may be producing significant levels of the active metabolite epoxide, which can...

PEANT - Overview: Peanut, IgE with Reflex to Peanut Components, IgE, Serum

Evaluating patients with suspected peanut allergy Evaluating patients with possible peanut cross-reactivity

PSAFT - Overview: Prostate-Specific Antigen (PSA), Total and Free, Serum

As an aid in distinguishing prostate cancer from benign prostatic conditions in men aged 50 years and older with total PSA between 4.0 and 10.0 ng/mL with digital rectal examination findings that are not suspicious for cancer

SARCP - Overview: Sarcoma Targeted Gene Fusion/Rearrangement Panel, Next-Generation Sequencing, Tumor

Diagnosing specific soft tissue and bone tumors (sarcoma) based on the observed gene fusions (eg, PAX3/FOXO1 gene fusion observed in alveolar rhabdomyosarcoma, EWSR1-FLI1 gene fusion for Ewing sarcoma, SS18-SSX1/2 gene fusion for synovial...