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Test Catalog

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...

HIP12 - Overview: HIV-1/HIV-2 RNA Detection, Plasma

Diagnosis of HIV-1 and/or HIV-2 infection in individuals with indeterminate or inconclusive HIV serologic test results Diagnosis of HIV-1 and/or HIV-2 infection in individuals with acute or early HIV-1 and/or HIV-2 infection Diagnosis of...

FUFXS - Overview: Fragile X, Follow-up Analysis

Confirming the methylation status of the repeat expansion allele in the FMR1 gene, to aid the diagnosis of FMR1-related disorders

NGSHM - Overview: MayoComplete Myeloid Neoplasms, Comprehensive OncoHeme Next-Generation Sequencing, Varies

Evaluation of known or suspected hematologic neoplasms, specifically of myeloid origin (eg, acute myeloid leukemia, myelodysplastic syndrome, myeloproliferative neoplasm, myelodysplastic/myeloproliferative neoplasm, unexplained cytopenias)...

PYRC - Overview: Pyruvate, Spinal Fluid

Investigating possible disorders of mitochondrial metabolism, when used in conjunction with cerebrospinal fluid lactate, collected at the same time, to determine the lactate-to-pyruvate (L:P) ratio Evaluating patients with neurologic...

PYR - Overview: Pyruvic Acid, Blood

Screening for possible disorders of mitochondrial metabolism, when used in conjunction with blood lactate collected at the same time, to determine the lactate-to-pyruvate ratio

CMVLR - Overview: Cytomegalovirus (CMV) Molecular Detection, PCR, Lower Respiratory

Rapid qualitative detection of cytomegalovirus (CMV) DNA in lower respiratory specimens This test is not intended for the monitoring of CMV disease progression or response to therapy.

POXP - Overview: Fatty Acid Profile, Peroxisomal (C22-C26), Plasma

Evaluating patients with possible peroxisomal disorders, including peroxisomal biogenesis disorders, X-linked adrenoleukodystrophy, and Refsum disease using plasma specimens Aiding in the assessment of peroxisomal function

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...

IMSNP - Overview: Inherited Motor and Sensory Neuropathy Gene Panel, Varies

Establishing a molecular diagnosis for patients with hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth (CMT) disease Identifying variants within genes known to be associated with HMSN or CMT disease, allowing for...

A1APP - Overview: Alpha-1-Antitrypsin Phenotype, Serum

Identification of homozygous and heterozygous phenotypes of the alpha-1-antitrypsin deficiency

DHTS - Overview: Dihydrotestosterone, Serum

Monitoring patients receiving 5-alpha reductase inhibitor therapy or chemotherapy Evaluating patients with possible 5-alpha reductase deficiency

SCOF3 - Overview: Severe Acute Respiratory Syndrome Coronavirus 2 (SARS CoV-2) and Influenza Virus Type A and Type B RNA, Molecular Detection, PCR, Varies

Simultaneous detection and differentiation of SARS-CoV-2 (cause of COVID-19), influenza A virus, and influenza B virus in upper or lower respiratory tract specimens from individuals with flu-like illnesses

THEV0 - Overview: Thalassemia Summary Interpretation, Blood

Incorporating and summarizing subsequent molecular results into an overall interpretation for the THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum

BIOTS - Overview: Biotinidase, Serum

Preferred test for the diagnosis of biotinidase deficiency Follow-up testing for certain organic acidurias

MPSWB - Overview: Mucopolysaccharidosis, Blood

Supporting the biochemical diagnosis of mucopolysaccharidoses type I, II, III, IV, or VI Quantification of heparan sulfate, dermatan sulfate, and keratan sulfate in whole blood specimens

PHSP - Overview: Prenatal Hepatitis Evaluation, Serum

Screening pregnant women for chronic hepatitis B and hepatitis C in primary care settings, with or without risk factors for hepatitis C Determining the level of infectivity of chronic hepatitis B in pregnant women This test is not useful...

ENDCP - Overview: Hereditary Endocrine Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary endocrine tumor syndrome Establishing a diagnosis of a hereditary endocrine tumor syndrome, allowing for targeted surveillance based on associated risks...

HPP12 - Overview: HIV-1/HIV-2 RNA Detection Prenatal, Plasma

Diagnosis of HIV-1 and/or HIV-2 infection in pregnant individuals with indeterminate or inconclusive HIV serologic test results Diagnosis of HIV-1 and/or HIV-2 infection in pregnant individuals in the acute or early phase of HIV-1 and/or...

3A5Q - Overview: Cytochrome P450 3A5 Genotype, Varies

Aids in optimizing treatment with tacrolimus and other drugs metabolized by cytochrome P450 3A5

MPSBS - Overview: Mucopolysaccharidosis, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidoses types I, II, III, IV, or VI Quantification of heparan sulfate, dermatan sulfate, and keratan sulfate in dried blood spot specimens

3MT - Overview: 3-Methoxytyramine, 24 Hour, Urine

A first- and second-tier screening test for the presumptive diagnosis of catecholamine-secreting pheochromocytomas and paragangliomas Testing in conjunction or as an alternative to plasma metanephrines (PMET / Metanephrines, Fractionated,...

MANN - Overview: Alpha-Mannosidase, Leukocytes

Diagnosis of alpha-mannosidosis This test is not useful for establishing carrier status for alpha-mannosidosis.

SABP - Overview: Streptococcal Antibodies Profile, Serum

Demonstration of acute or recent streptococcal infection using both antistreptolysin O and anti-DNase B titers

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...

HIAAR - Overview: 5-Hydroxyindoleacetic Acid, Random, Urine

Biochemical diagnosis and monitoring of intestinal carcinoid syndrome using random urine specimens

PT217 - Overview: Phospho-Tau 217, Plasma

Evaluation of individuals, aged 50 years and older, presenting with cognitive impairment who are being assessed for Alzheimer disease and other causes of cognitive decline This test is not intended as a screening test for Alzheimer...

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

HPFLU - Overview: Influenza Virus Type A and Type B and Respiratory Syncytial Virus (RSV) RNA, Molecular Detection, PCR, Varies

Simultaneous detection of influenza A virus, influenza B virus, and respiratory syncytial virus in upper or lower respiratory tract specimens from individuals with flu-like illnesses

CVHBG - Overview: Comprehensive Cerebrovascular Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a monogenic condition in which there is an increased risk for a cerebrovascular accident Establishing a diagnosis of a monogenic condition in which...

HIS12 - Overview: HIV-1/HIV-2 RNA Detection, Serum

Diagnosis of HIV-1 and/or HIV-2 infection in individuals with indeterminate or inconclusive HIV serologic test results Diagnosis of HIV-1 and/or HIV-2 infection in individuals with acute or early HIV-1 and/or HIV-2 infection Diagnosis...

THYRP - Overview: Hereditary Thyroid Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary thyroid cancer syndrome Establishing a diagnosis of a hereditary thyroid cancer syndrome, allowing for targeted surveillance based on associated...

CRWB - Overview: Chromium, Blood

Monitoring exposure to chromium using whole blood specimens Monitoring metallic prosthetic implant wear

CFSMN - Overview: Cystic Fibrosis and Spinal Muscular Atrophy Carrier Screen Panel, Varies

Reproductive risk refinement via carrier screening for individuals in the general population for cystic fibrosis (CF) and spinal muscular atrophy (SMA). Reproductive risk refinement via carrier screening for individuals with a family...

HIAA - Overview: 5-Hydroxyindoleacetic Acid, 24 Hour, Urine

Biochemical diagnosis and monitoring of intestinal carcinoid syndrome using 24-hour urine specimens

HBAG - Overview: Hepatitis B Virus Surface Antigen, Serum

Diagnosis of acute, recent, or chronic hepatitis B Determination of chronic hepatitis B status This test should not be used as a screening or confirmatory test for blood donor specimens.

TAPEN - Overview: Tapentadol and Metabolite, Random, Urine

Monitoring of compliance utilizing tapentadol Detection and confirmation of the illicit use of tapentadol This test is not intended for use in employment-related testing.

HSMP - Overview: Hepatosplenomegaly Panel, Plasma

As a component to the initial evaluation of a patient presenting with hepatosplenomegaly, using plasma specimens This test is not useful for the identification of carriers. This test should not be used as a monitoring tool for patients...

PSYR - Overview: Psychosine, Whole Blood

Aiding in the biochemical diagnosis of Krabbe disease using whole blood specimens Follow-up of individuals affected with Krabbe disease Follow-up testing after an abnormal newborn screening result for Krabbe disease Monitoring of...

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...

HPS12 - Overview: HIV-1/HIV-2 RNA Detection Prenatal, Serum

Diagnosis of HIV-1 and/or HIV-2 infection in pregnant individuals with indeterminate or inconclusive HIV serologic test results Diagnosis of HIV-1 and/or HIV-2 infection in pregnant individuals in the acute or early phase of HIV-1 and/or...

BGA - Overview: Beta-Galactosidase, Leukocytes

Aiding in the diagnosis of GM1 gangliosidosis, Morquio B disease, and galactosialidosis This test is not suitable for carrier detection.

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