PSF - Overview: Protein S Antigen, Free, Plasma

As part of an investigation of patients with a history of thrombosis

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

MPS4B - Overview: Mucopolysaccharidosis IV Enzyme Panel, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidosis type IVA and IVB This test is not useful for carrier detection.

HL57R - Overview: HLA-B*57:01 Genotype, Pharmacogenomics, Varies

Identifying individuals with an increased risk of hypersensitivity reactions to abacavir, based on the presence of the human leukocyte antigen HLA-B*57:01 allele Identifying individuals taking pazopanib who have an increased risk of...

GAAZ - Overview: Pompe Disease, Full Gene Analysis, Varies

Confirmation of diagnosis of Pompe disease (as a follow-up to biochemical analyses)

FNMEN - Overview: Neisseria Meningitidis IgG Vaccine Response

Neisseria Meningitidis IgG Vaccine Response

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...

ALAGP - Overview: Alagille Syndrome Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Alagille syndrome Establishing a diagnosis of Alagille syndrome

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

BHCG - Overview: Beta-Human Chorionic Gonadotropin, Quantitative, Serum

Monitoring patients for retained products of conception Aiding in the diagnosis of gestational trophoblastic disease (GTD), testicular tumors, ovarian germ cell tumors, teratomas, and, rarely, other human chorionic gonadotropin...

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,...

AGABS - Overview: Alpha-Galactosidase, Blood Spot

Diagnosis of Fabry disease in male patients using blood spot specimens Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease Follow-up to an abnormal newborn screen...

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

HIVQN - Overview: HIV-1 RNA Detection and Quantification, Plasma

Quantifying plasma HIV-1 RNA levels (viral load) in individuals living with HIV-1: -Before initiating antiretroviral therapy to obtain baseline viral load -Who may have developed HIV-1 drug resistance while on antiretroviral therapy -Who...

PMARG - Overview: Postmortem Arrhythmia Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death suspicious for cardiac arrhythmia or with a personal or family history suggestive of a hereditary form of cardiac arrhythmia Identifying a...

PMHLH - Overview: Postmortem Primary Hemophagocytic Lymphohistiocytosis (HLH) Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a death attributed to primary hemophagocytic lymphohistiocytosis Identifying a disease-causing variant in the decedent, which may assist with risk assessment and...

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.

DOCS - Overview: 11-Deoxycorticosterone, Serum

Diagnosis of suspected 11-hydroxylase deficiency, including the differential diagnosis of 11-beta-hydroxylase 1 (CYP11B1) versus 11-beta-hydroxylase 2 (CYP11B2) deficiency Diagnosis of glucocorticoid-responsive...

F5M - Overview: 5-Methyltetrahydrofolate

5-Methyltetrahydrofolate

FFES - Overview: Estradiol Free, Serum (includes Estradiol and SHBG)

Estradiol Free, Serum (includes Estradiol and SHBG)

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...

WESDX - Overview: Whole Exome Sequencing for Hereditary Disorders, Varies

Serving as a first-tier test to identify a molecular diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory guidance, management...

FFTEN - Overview: Tetrahydrobiopterin and Neopterin Profile (BH4, N)

Tetrahydrobiopterin and Neopterin Profile (BH4, N)

ACRN - Overview: Acylcarnitines, Quantitative, Plasma

Diagnosis of fatty acid oxidation disorders and several organic acidurias using plasma specimens Evaluating treatment during follow-up of patients with fatty acid beta-oxidation disorders and several organic acidurias

ACRNS - Overview: Acylcarnitines, Quantitative, Serum

Diagnosis of fatty acid oxidation disorders and several organic acidurias using serum specimens Evaluating treatment during follow-up of patients with fatty acid beta-oxidation disorders and several organic acidurias

MNDP - Overview: Inherited Motor Neuron Disease Gene Panel, Varies

Establishing a molecular diagnosis for patients with motor neuron disease Identifying variants within genes known to be associated with motor neuron disease, allowing for predictive testing of at-risk family members

HIVDI - Overview: HIV-1 and HIV-2 Antibody Confirmation and Differentiation, Serum

Confirmation and differentiation of HIV-1 and HIV-2 antibodies in serum specimens that show reactive results with third-(HIV-1/-2 antibody only) and 4th-generation (HIV antigen and antibody) HIV serologic assays Confirmation and...

HVDIP - Overview: HIV-1 and HIV-2 Antibody Confirmation and Differentiation, Plasma

Confirmation and differentiation of HIV-1 and HIV-2 antibodies in plasma specimens that show reactive results with third-(HIV-1/-2 antibody only) and 4th-generation (HIV antigen and antibody) HIV serologic assays This test is not useful as...

PMCMG - Overview: Postmortem Cardiomyopathy Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to cardiomyopathy or with a personal or family history suggestive of a hereditary form of cardiomyopathy Identifying a disease-causing...

PMCAG - Overview: Postmortem Cardiomyopathy and Arrhythmia Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to cardiomyopathy or suspicious for cardiac arrhythmia or with a personal or family history suggestive of a hereditary form of...

TYRGP - Overview: Tyrosine Disorders Gene Panel, Varies

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

FNEU - Overview: Neurotransmitter Metabolites (5HIAA, HVA, 3OMD) (CSF)

Neurotransmitter Metabolites (5HIAA, HVA, 3OMD) (CSF)

AECDP - Overview: Angioedema and Complement Disorders Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited complement disorder, including complement deficiency Providing a comprehensive genetic evaluation for patients with a...

NSRGG - Overview: Noonan Syndrome and Related Conditions Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome with loose anagen hair, cardiofaciocutaneous syndrome, Costello syndrome,...

WGSR - Overview: Whole Genome Sequencing Reanalysis, Varies

Identifying a diagnosis or additional variants associated with the phenotype in patients who previously have had a negative or inconclusive whole genome sequencing test Reanalyzing whole genome sequencing data when a patient (proband)...

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...

CDOMB - Overview: Cadmium for Occupational Monitoring, Blood

Detecting exposure to cadmium, a toxic heavy metal, as a part of occupational monitoring

UNHB - Overview: Hemoglobin Stability, Blood

Work-up of congenital hemolytic anemias

OSMOF - Overview: Osmolality, Feces

Measurement of osmolality for the workup of cases of chronic diarrhea Diagnosis of factitious diarrhea (where patient adds fluid to stool to simulate diarrhea)

RUFI - Overview: Rufinamide, Serum

Monitoring serum rufinamide concentrations, assessing compliance, and adjusting dosage in patients receiving other drugs that interact pharmacokinetically with rufinamide (ie, drugs that induce liver CYP3A4 enzymes) and may be helpful in...

CDB - Overview: Cadmium, Blood

Detecting exposure to cadmium, a toxic heavy metal

ETX - Overview: Ethosuximide, Serum

Monitoring ethosuximide therapy Determining compliance Assessing ethosuximide toxicity

TRCNG - Overview: Trichinella Antibody, IgG, Serum

As an adjunct in the diagnosis of trichinosis

SGUR - Overview: Specific Gravity, Random, Urine

As a partial assessment of the kidney's ability to concentrate urine

WESPR - Overview: Panel to Whole Exome Sequencing Reflex Test, Varies

Serving as a second-tier test for patients in whom previous genetic testing was negative or inconclusive Identifying causative variants in genes that were not included on panel testing which can allow for: -Better understanding of the...

WGSDX - Overview: Whole Genome Sequencing for Hereditary Disorders, Varies

Serving as a first-tier test to identify a molecular diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory guidance, management...

WESMT - Overview: Whole Exome and Mitochondrial Genome Sequencing, Varies

Serving as a first-tier test to identify a molecular and/or mitochondrial diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory...

CRHEP - Overview: Chronic Viral Hepatitis (Unknown Type), Serum

Diagnosis and evaluation of patients with symptoms of hepatitis lasting more than 6 months Distinguishing between chronic hepatitis B and C

PHEPU - Overview: Previous Viral Hepatitis (Unknown Type), Serum

Determining if an individual has been infected following exposure to an unknown type of viral hepatitis virus Obtaining baseline serologic markers of an individual exposed to a source with an unknown type of hepatitis Determining...

DOGPF - Overview: Dog Dander, IgE, with Reflex to Dog Dander Components, IgE, Serum

Evaluating patients with suspected dog dander allergy