MPS1Z - Overview: Hurler Syndrome, Full Gene Analysis, Varies

Identifying variants within the IDUA gene Confirmation of a diagnosis of mucopolysaccharidosis type I (MPS-I) Carrier testing when there is a family history of MPS- I, but disease-causing variants have not been previously identified

RLTE4 - Overview: Leukotriene E4, Random, Urine

Aiding in the evaluation of patients at-risk for mast cell activation syndrome (eg, systemic mastocytosis, IgE-mediated allergies, or aspirin-exacerbated respiratory disease) using random urine collections

PBPFD - Overview: Lead Profile Occupational Exposure, Blood

Detecting lead toxicity due to occupational exposure

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...

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...

HPGLP - Overview: Hereditary Paraganglioma/Pheochromocytoma Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary paraganglioma and pheochromocytoma (PGL/PCC) syndrome Establishing a diagnosis of a hereditary PGL/PCC, allowing for targeted surveillance based on...

CLADP - Overview: Congenital Lactic Acidosis Panel, Varies

Follow up for abnormal biochemical results suggestive of congenital lactic acidosis Establishing a molecular diagnosis for patients with congenital lactic acidosis Identifying variants within genes known to be associated with congenital...

MDS2 - Overview: Movement Disorder, Autoimmune/Paraneoplastic Evaluation, Serum

Evaluating patients with suspected paraneoplastic or other autoimmune movement disorders including patients with ataxia, brainstem encephalitis, chorea, dyskinesias, myoclonus, and parkinsonism using serum specimens

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

CARGG - Overview: Comprehensive Arrhythmia Gene Panel, Varies

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

CYSGP - Overview: Cystinuria Gene Panel, Varies

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

CTDC - Overview: Connective Tissue Diseases Cascade, Serum

Evaluation of patients with signs and symptoms compatible with connective tissue diseases Initial evaluation of patients in clinical situations in which the prevalence of disease is low (6) This test is not recommended for: -Testing in...

CASRG - Overview: CASR Full Gene Sequencing with Deletion/Duplication, Varies

Providing a genetic evaluation of individuals with a personal or family history of familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, or autosomal dominant hypoparathyroidism (autosomal dominant...

MMAGP - Overview: Methylmalonic Aciduria Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a methylmalonic acidemia (MMA) Establishing a molecular diagnosis for patients with MMA Identifying variants within genes known to be associated with MMA, allowing for predictive...

SPAS - Overview: Arsenic Speciation, Random, Urine

Diagnosing arsenic intoxication using random urine specimens

LFRI - Overview: Progentec aiSLE DX Lupus Flare Risk Index, Plasma

Aiding in the assessment of risk of flare in lupus patients when used in conjunction with standard clinical assessment

GID2 - Overview: Gastrointestinal Dysmotility, Autoimmune/Paraneoplastic Evaluation, Serum

Investigating unexplained weight loss, early satiety, anorexia, nausea, vomiting, constipation, or diarrhea in a patient with a past or family history of cancer or autoimmunity Directing a focused search for cancer Investigating...

IEHCG - Overview: Interference Evaluation Heterophile, Beta-Human Chorionic Gonadotropin, Serum

Evaluating suspected interference from heterophile antibodies causing a falsely elevated human chorionic gonadotropin result This test is not to be used for pregnancy testing.

CJDE - Overview: Creutzfeldt-Jakob Disease Evaluation, Spinal Fluid

Assessment of Creutzfeldt-Jakob disease or other human prion disease in patients with rapidly progressive dementia

HMUOE - Overview: Heavy Metal Occupational Exposure, with Reflex, Random, Urine

Preferred screening test for detection of arsenic, cadmium, mercury, and lead due to occupational exposure using random urine specimens

HMUCR - Overview: Heavy Metal/Creatinine Ratio, with Reflex, Random, Urine

Preferred screening test for detection of arsenic, cadmium, mercury, and lead in random urine specimens

SMN1Z - Overview: SMN1 Gene, Full Gene Analysis, Varies

Confirming a diagnosis of spinal muscular atrophy due to nucleotide variants in SMN1 gene Second-tier carrier screening when there is a family history of spinal muscular atrophy, but an affected individual is not available for testing, or...

CHIDB - Overview: Chimerism-Donor, Varies

Evaluating the donor cells prior to bone marrow transplant Determining the relative amounts of donor and recipient cells in a specimen An indicator of bone marrow transplant success

CMPRE - Overview: Family Member Comparator Specimen for Exome Sequencing, Varies

Submitting a biological family member's specimen to be used as a comparator for affected patients (probands) undergoing whole exome sequencing

MFCDF - Overview: Myeloma, High Risk with Reflex Probes, Diagnostic FISH Evaluation, Fixed Cell Pellet

Aiding in the diagnosis of new cases of multiple myeloma or other plasma cell proliferative disorders using a fixed cell pellet derived from bone marrow Identifying prognostic markers based on the abnormalities found This test should...

SESPF - Overview: Sesame Seed, IgE, with Reflex to Sesame Seed Component, IgE, Serum

Evaluating patients with suspected sesame seed allergy

HYPTG - Overview: Hypertriglyceridemia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary forms of primary hypertriglyceridemia and related conditions.

GBAZ - Overview: Gaucher Disease, Full Gene Analysis, Varies

Confirmation of a diagnosis of Gaucher disease Carrier screening in cases where there is a family history of Gaucher disease, but an affected individual is not available for testing or disease-causing alterations have not been identified

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,...

FBWME - Overview: Bayberry/Wax Myrtle (Myrica spp) IgE

Bayberry/Wax Myrtle (Myrica spp) IgE

FHACK - Overview: Hackberry (Celtis occidentalis) IgE

Hackberry (Celtis occidentalis) IgE

PNZN - Overview: Perphenazine, Serum or Plasma

Perphenazine, Serum or Plasma

FBEP - Overview: Pea Black-Eyed/Cow Pea (Vigna sinensis) IgE

Pea Black-Eyed/Cow Pea (Vigna sinensis) IgE

FMME - Overview: Mahi Mahi IgE

Mahi Mahi IgE

CHIKV - Overview: Chikungunya IgM and IgG, Antibody, Serum

Aiding in the diagnosis of recent infection with Chikungunya virus in patients with recent travel to endemic areas and a compatible clinical syndrome

GPSYP - Overview: Glucopsychosine, Plasma

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using plasma specimens Supporting a biochemical diagnosis of Gaucher...

HPCRP - Overview: Helicobacter pylori with Clarithromycin Resistance Prediction, Molecular Detection, PCR, Varies

Assessing pure isolates of Helicobacter pylori to predict clarithromycin resistance or susceptibility

TALDO - Overview: Polyols, Quantitative, Urine

Diagnosing deficiencies of transaldolase, transketolase, sedoheptulose, or ribose-5-phosphate isomerase

SFX - Overview: Protein S Activity, Plasma

Second-order testing for diagnosis of congenital or acquired protein S deficiency, ie, as an adjunct to initial testing based on results of protein S antigen assay (free protein S antigen, with or without total protein S antigen assay)...

RPR19 - Overview: Respiratory Profile, Region 19, Puerto Rico, Serum

Assessing sensitization to various inhalant allergens commonly found in Puerto Rico Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response and/or anaphylactic...

IL28Q - Overview: Interleukin 28B (IL28B) Variant (rs12979860), Varies

Predicting responsiveness of genotype 1 hepatitis C viral infections to combined pegylated-interferon and ribavirin-based therapies

HCHLG - Overview: Hypercholesterolemia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of familial hypercholesterolemia (FH), sitosterolemia, or other monogenic forms of inherited hypercholesterolemia Establishing a diagnosis of FH,...

CTRNA - Overview: Chlamydia trachomatis, Nucleic Acid Amplification, Varies

Detecting Chlamydia trachomatis This test is not intended for use in medico-legal applications. This test is not useful for the detection of other Chlamydia species.

TCRB - Overview: T-Cell Receptor V-Beta Repertoire Analysis, Spectratyping, Blood

Assessment of T-cell receptor diversity in various clinical contexts including inborn errors of immunity (formerly primary immunodeficiencies), monitoring immune reconstitution post-hematopoietic stem cell transplantation, and temporal...

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

Molecular confirmation of clinically suspected Friedreich ataxia

BIVAL - Overview: Bivalirudin, Ecarin, Plasma

Monitoring of bivalirudin therapy for patients with prolonged baseline activated partial thromboplastin time

C8FX - Overview: C8 Complement, Functional, Serum

Diagnosis of C8 deficiency Investigation of a patient with an undetectable total hemolytic complement level

HK27M - Overview: Histone H3 K27M Mutant (H3 K27M) Immunostain, Technical Component Only

Identifying the presence of altered H3 K27M protein

ROXUR - Overview: Oxalate, Random, Urine

Monitoring therapy for kidney stones using random urine specimens Identifying increased urinary oxalate as a risk factor for stone formation Diagnosis of primary or secondary hyperoxaluria