HIVDR - Overview: HIV-1 Genotypic Drug Resistance to Reverse Transcriptase, Protease, and Integrase Inhibitors, Plasma

Identifying HIV-1 genotypic mutations associated with resistance to nucleotide and non-nucleoside reverse-transcriptase inhibitors, protease inhibitors, and integrase strain transfer inhibitors Guiding initiation or change of combination...

AFXN - Overview: Friedreich Ataxia, Repeat Expansion Analysis, Varies

Molecular confirmation of clinically suspected Friedreich ataxia

LGCMP - Overview: Inherited Limb-Girdle Muscular Dystrophy and Congenital Myasthenic Syndrome Gene Panel, Varies

Establishing a molecular diagnosis for patients with limb-girdle muscular dystrophy or congenital myasthenic syndrome Identifying variants within genes known to be associated with limb-girdle muscular dystrophy or congenital myasthenic...

MCP2Z - Overview: MECP2 Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis in individuals with features of Rett syndrome and MECP2-related disorders Identifying pathogenic variants within the MECP2 gene known to be associated with Rett syndrome and MECP2-related disorders,...

RSCGP - Overview: Nephrocalcinosis, Nephrolithiasis, and Renal Electrolyte Imbalance Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of nephrocalcinosis, nephrolithiasis, or renal electrolyte imbalance Establishing a diagnosis for a variety of hereditary...

WARSQ - Overview: Warfarin Response Genotype, Varies

Identifying patients who may require warfarin dosing adjustments(3,4) including: -Patients being started on a first prescription for warfarin -Patients who have previously been prescribed warfarin and have required multiple dosing...

CDKZ - Overview: CDKN1C Gene, Full Gene Analysis, Varies

Confirming a clinical diagnosis of Beckwith-Wiedemann syndrome following a normal result on methylation analysis Confirming a clinical diagnosis of IMAGe (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia...

MPNML - Overview: MPL Exon 10 Sequencing, Reflex, Varies

Aiding in the distinction between a reactive cytosis and a myeloproliferative neoplasm when JAK2 V617F testing result is negative Evaluates for variants in MPL in an algorithmic process for MPNCM / Myeloproliferative Neoplasm, CALR with...

SP7CS - Overview: Septin-7 Antibody, Cell-Binding Assay, Serum

Detecting septin-7 IgG by cell-binding assay using serum specimens

SP7CC - Overview: Septin-7 Antibody, Cell-Binding Assay, Spinal Fluid

Detecting septin-7 IgG by cell-binding assay using cerebrospinal fluid specimens

APBCC - Overview: Adaptor Protein 3 Beta2 (AP3B2) Antibody, Cell-Binding Assay, Spinal Fluid

The differential diagnosis of patients presenting with mixed cerebellar and sensory ataxia and myeloneuropathy Evaluating AP3B2 (adaptor protein 3 beta2)-IgG by cell-binding assay using spinal fluid specimens

SP7TS - Overview: Septin-7 Antibody, Tissue Immunofluorescence Titer, Serum

Detecting septin-7 IgG in serum specimens Reporting an end titer result from serum specimens

POSA - Overview: Posaconazole, Serum

Monitoring posaconazole therapy

URIC - Overview: Uric Acid, Serum

Diagnosis and treatment of renal failure Monitoring patients receiving cytotoxic drugs and a variety of other disorders, including gout, leukemia, psoriasis, starvation and other wasting conditions

PCAB - Overview: Parietal Cell Antibodies, IgG, Serum

Evaluating patients suspected of having pernicious anemia or autoimmune-mediated deficiency of vitamin B12 with or without megaloblastic anemia

HPLC - Overview: High-Performance Liquid Chromatography (HPLC) Hemoglobin Variant, Blood

Providing additional information, which aids in the identification of hemoglobin variants

GLT - Overview: Gluten, IgE, Serum

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

AATHI - Overview: Thrombophilia Profile Interpretation

Interpretation of testing performed as part of a profile to evaluate patients with thrombosis or hypercoagulability states including detecting a lupus-like anticoagulant; dysfibrinogenemia; disseminated intravascular...

IFXED - Overview: Immunofixation Heavy Chain Type Delta and Epsilon, Serum

Identification and isotyping of IgD or IgE monoclonal gammopathy Documentation of complete response to therapy with established monoclonal gammopathy consisting of an IgD or IgE heavy chain

PGKC - Overview: Phosphoglycerate Kinase Enzyme Activity, Blood

Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia, especially if X-linked inheritance pattern. Evaluation of individuals with myopathic or neurologic symptoms

APBTC - Overview: Adaptor Protein 3 Beta2 (AP3B2) Antibody, Tissue Immunofluorescence Titer, Spinal Fluid

The differential diagnosis of patients presenting with mixed cerebellar and sensory ataxia and myeloneuropathy Reporting an end titer result from spinal fluid specimens

APBCS - Overview: Adaptor Protein 3 Beta2 (AP3B2) Antibody, Cell-Binding Assay, Serum

The differential diagnosis of patients presenting with mixed cerebellar and sensory ataxia and myeloneuropathy Evaluating AP3B2 (adaptor protein 3 beta2)-IgG by cell-binding assay using serum specimens

METR1 - Overview: Cytochrome b5 Reductase Enzyme Activity, Blood

Evaluation of patients with cyanosis Confirming cases of suspected cytochrome b5 reductase (methemoglobin reductase) deficiency Functional studies in families with cytochrome b5 reductase deficiency

NCDTS - Overview: Neurochondrin Antibody, Tissue Immunofluorescence Titer, Serum

Detecting neurochondrin-IgG in serum from patients presenting with cerebellar and brainstem syndrome Reporting an end titer result from serum specimens

NCDCC - Overview: Neurochondrin Antibody, Cell-Binding Assay, Spinal Fluid

Evaluating neurochondrin-IgG by cell-binding assay using spinal fluid from patients presenting with cerebellar and brainstem syndrome

NCDCS - Overview: Neurochondrin Antibody, Cell-Binding Assay, Serum

Evaluating neurochondrin-IgG by cell-binding assay using serum from patients presenting with cerebellar and brainstem syndrome

NAACD - Overview: N-Acetylaspartic Acid, Canavan Disease, Random, Urine

Diagnosis and monitoring of individuals with Canavan disease Follow-up quantitation of abnormal organic acid elevations of N-acetylaspartic acid

SP7TC - Overview: Septin-7 Antibody, Tissue Immunofluorescence Titer, Spinal Fluid

Detecting septin-7 IgG in cerebrospinal fluid (CSF) specimens Reporting an end titer result from CSF specimens

PGK1 - Overview: Phosphoglycerate Kinase Enzyme Activity, Blood

Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia, especially if X-linked inheritance pattern Evaluation of individuals with myopathic or neurologic symptoms

CMMPS - Overview: Cobalamin, Methionine, and Methylmalonic Acid Pathways, Serum

Screening and monitoring patients suspected of or confirmed with an inherited disorder of methionine, cobalamin, or propionate metabolism using serum specimens Evaluating individuals with suspected deficiency of vitamin B12

CMMPP - Overview: Cobalamin, Methionine, and Methylmalonic Acid Pathways, Plasma

Screening and monitoring patients suspected of or confirmed with an inherited disorder of methionine, cobalamin, or propionate metabolism using plasma specimens Evaluating individuals with suspected deficiency of vitamin B12

PMAOG - Overview: Postmortem Aortopathy Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to thoracic aortic dissection or with a personal or family history suggestive of Marfan syndrome, Loeys-Dietz syndrome, thoracic aortic...

FXS - Overview: Fragile X Syndrome, Molecular Analysis, Varies

Confirming a diagnosis of fragile X syndrome, fragile X tremor/ataxia syndrome, or premature ovarian insufficiency caused by expansions in the FMR1 gene Determining carrier status for individuals with a family history of fragile X...

MPAGP - Overview: Methylmalonic Aciduria-Propionic Aciduria Combined Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of methylmalonic acidemia or propionic acidemia Establishing a molecular diagnosis for patients with methylmalonic acidemia or propionic acidemia Identifying variants within genes...

LIPOG - Overview: Lipodystrophy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary lipodystrophy Establishing a diagnosis of a hereditary lipodystrophy

APBTS - Overview: Adaptor Protein 3 Beta2 (AP3B2) Antibody, Tissue Immunofluorescence Titer, Serum

The differential diagnosis of patients presenting with mixed cerebellar and sensory ataxia and myeloneuropathy Reporting an end titer result from serum specimens

T46CC - Overview: Tripartite Motif-Containing Protein 46 (TRIM46) IgG, Cell Binding Assay, Spinal Fluid

Detecting tripartite motif-containing protein 46 (TRIM46)-IgG by cell-binding assay using cerebrospinal fluid specimens Evaluation of an autoimmune/paraneoplastic neurological syndrome among patients presenting with cerebellar ataxia,...

T46IS - Overview: Tripartite Motif-Containing Protein 46 (TRIM46) IgG, Tissue Immunofluorescence, Serum

Detecting tripartite motif-containing protein 46 (TRIM46)-IgG in serum specimens Evaluation of an autoimmune/paraneoplastic neurological syndrome among patients presenting with cerebellar ataxia, encephalitis, or encephalomyelitis

T46IC - Overview: Tripartite Motif-Containing Protein 46 (TRIM46) IgG, Tissue Immunofluorescence, Spinal Fluid

Detecting tripartite motif-containing protein 46 (TRIM46)-IgG in cerebrospinal fluid specimens Evaluation of an autoimmune/paraneoplastic neurological syndrome among patients presenting with cerebellar ataxia, encephalitis, or...

T46TS - Overview: Tripartite Motif-Containing Protein 46 (TRIM46) IgG, Tissue Immunofluorescence Titer, Serum

Reporting an end titer result for tripartite motif-containing protein 46 (TRIM46)-IgG in serum specimens Evaluation of an autoimmune/paraneoplastic neurological syndrome among patients presenting with cerebellar ataxia, encephalitis, or...

T46TC - Overview: Tripartite Motif-Containing Protein 46 (TRIM46) IgG, Tissue Immunofluorescence Titer, Spinal Fluid

Reporting an end-titer result for tripartite motif-containing protein 46 (TRIM46)-IgG in cerebrospinal fluid specimens Evaluation of an autoimmune/paraneoplastic neurological syndrome among patients presenting with cerebellar ataxia,...

FUSI - Overview: FUS Immunostain, Technical Component Only

Identification of frontotemporal lobar dementia

GPI1 - Overview: Glucose Phosphate Isomerase Enzyme Activity, Blood

The evaluation of individuals with Coombs-negative chronic hemolysis

ECAD - Overview: E-Cadherin Immunostain, Technical Component Only

Differentiation between lobular and ductal neoplasms of the breast

BFCC - Overview: Cell Count and Differential, Body Fluid

Aiding in the diagnosis of joint disease, systemic disease, inflammation, malignancy, infection, and trauma

NCDTC - Overview: Neurochondrin Antibody, Tissue Immunofluorescence Titer, Spinal Fluid

Detecting neurochondrin-IgG in spinal fluid (CSF) from patients presenting with cerebellar and brainstem syndrome Reporting an end titer result from CSF specimens

CARNP - Overview: Carbapenemase Detection-Carba NP Test, Varies

Confirming carbapenemase production from pure isolates of Enterobacterales or Pseudomonas aeruginosa

GPIC - Overview: Glucose Phosphate Isomerase Enzyme Activity, Blood

The evaluation of individuals with Coombs-negative chronic hemolysis

TRIGC - Overview: Triglycerides, CDC, Serum

Measurement of triglycerides as part of lipoprotein profiling

CALX - Overview: CALR Mutation Analysis, Myeloproliferative Neoplasm (MPN), Reflex, Varies

Aiding in the distinction between a reactive cytosis and a chronic myeloproliferative disorder Evaluating mutations in CALR in an algorithmic process for the MPNR / Myeloproliferative Neoplasm, JAK2 V617F with Reflex to CALR and MPL,...