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Test Catalog

MPS1B - Overview: Endogenous Mucopolysaccharidosis Type I (IDUA [Alpha-L-Iduronidase]) Biomarker, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type I (MPS I) (decreased alpha-L-iduronidase activity) Follow-up testing for evaluation of an abnormal newborn screening result for MPS...

MPS1R - Overview: Endogenous Mucopolysaccharidosis Type I (IDUA [Alpha-L-Iduronidase]) Biomarker Reflex, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type I (MPS I, decreased alpha-L-iduronidase activity) where quantitation of the glycosaminoglycans dermatan and heparan sulfate is desired...

HTLVL - Overview: Human T-Cell Lymphotropic Virus Types I and II (HTLV-I/-II) Antibody Confirmation, Serum

Confirmatory detection of human T-cell lymphotropic virus types I and II (HTLV-I and HTLV-II)-specific IgG antibodies in human serum specimens that are consistently reactive by initial screening tests Differentiating between HTLV-I- and...

HTLVI - Overview: Human T-Cell Lymphotropic Virus Types I and II Antibody Screen with Confirmation, Serum

Qualitative detection of human T-cell lymphotropic virus types I and II (HTLV-I and HTLV-II)-specific antibodies with confirmation and differentiation between HTLV-I and HTLV-II infection This test should not be used to screen blood, human...

DIS - Overview: Human Leukocyte Antigens (HLA) Class I and II Disease Association Typing, Low Resolution, Blood

Identifying class I and II human leukocyte antigens (HLA) for potential disease associations or markers for drug hypersensitivity

HSTNI - Overview: Troponin I, High Sensitivity, Plasma

Excluding the diagnosis of acute coronary syndromes Explaining troponin T elevations related to skeletal myopathy and/or assay interferences

PINP - Overview: Procollagen I Intact N-Terminal, Serum

Aiding in monitoring antiresorptive and anabolic therapy in patients with osteoporosis An adjunct in the assessment of conditions associated with increased bone turnover, such as Paget disease This test should not be used as a screening...

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

TYRSC - Overview: Tyrosinemia Follow-Up Panel, Self-Collect, Blood Spot

Monitoring of individuals with tyrosinemia type I (hepatorenal tyrosinemia) using a patient-collected specimen

MPSQU - Overview: Mucopolysaccharides Quantitative, Random, Urine

Supporting the biochemical diagnosis of one of the mucopolysaccharidoses: types I, II, III, IV, VI, or VII

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...

IDUAW - Overview: Alpha-L-Iduronidase, Leukocytes

Diagnosis of mucopolysaccharidosis I, Hurler, Scheie, and Hurler-Scheie syndromes in leukocytes This test is not useful for determining carrier status.

FIBTP - Overview: Fibrinogen, Plasma

Detecting increased or decreased fibrinogen (factor I) concentration of acquired or congenital origin Monitoring severity and treatment of disseminated intravascular coagulation and fibrinolysis

MPSER - Overview: Mucopolysaccharides Quantitative, Serum

Quantification of dermatan sulfate, heparan sulfate, and keratan sulfate in serum to support the biochemical diagnosis of mucopolysaccharidoses types I, II, III, IV, VI, or VII

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

1DIS - Overview: Human Leukocyte Antigens (HLA) A-B-C Disease Association Typing Low Resolution, Blood

Determining class I human leukocyte antigens (HLA) on specimens for those patients who have become refractory to platelet transfusions and identify potential disease associations or markers for drug hypersensitivity

NAGS - Overview: Hexosaminidase A and Total Hexosaminidase, Serum

Carrier detection and diagnosis of Tay-Sachs disease and Sandhoff disease Ruling out I-cell disease This test is not useful for pregnant females or those treated with hormonal contraception.

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

PSPTG - Overview: Phosphatidylserine/Prothrombin Antibody, IgG, Serum

Detecting IgG antibodies against phosphatidylserine/prothrombin complex in patients with strong suspicion of antiphospholipid syndrome (APS) who are negative for the APS criteria laboratory tests (lupus anticoagulant, IgG and IgM...

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...

PTTP - Overview: Prothrombin Time, Plasma

Screening assay to detect deficiencies of one or more coagulation factors (factors I, II, V, VII, X) Screening assay to detect coagulation inhibition Monitoring intensity of oral anticoagulant therapy when combined with INR reporting

CTSU - Overview: Ceramide Trihexosides and Sulfatides, Random, Urine

Identifying patients with Fabry disease Identifying patients with metachromatic leukodystrophy Identifying patients with saposin B deficiency Identifying patients with multiple sulfatase deficiency Identifying patients with...

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...

PLABN - Overview: Platelet Antibody Screen, Serum

Detecting alloantibodies to epitopes on platelet glycoproteins IIb/IIIa, Ib/Ix, Ia/IIa, IV and class I human leukocyte antigens to evaluate cases of immune mediated refractoriness to platelet transfusions, posttransfusion purpura, or...

UGTFZ - Overview: UDP-Glucuronosyltransferase 1A1 (UGT1A1), Full Gene Sequencing, Varies

Establishing a diagnosis of Crigler-Najjar syndrome type I or type II and the trait of Gilbert syndrome Establishing carrier status for Crigler-Najjar syndrome type I or type II Identifying individuals who are at risk of...

PLSD - Overview: Lysosomal and Peroxisomal Disorders Screen, Blood Spot

Evaluation of patients with a clinical presentation suggestive of a lysosomal disorder, specifically Gaucher, infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency,, Pompe, Krabbe, or Fabry disease, or...

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...

PTSC - Overview: Prothrombin Time (PT), Plasma

Screening to identify a deficiency of one or more of the clotting factors of the extrinsic coagulation system (I, II, V, VII, X) due to hereditary deficiency or acquired conditions such as liver disease, vitamin K deficiency, or a specific...

PTMSC - Overview: Prothrombin Time Mix 1:1, Plasma

Screening test to detect a deficiency of 1 or more of the clotting factors of the extrinsic coagulation system (I, II, V, VII, X) due to hereditary deficiency or acquired conditions such as liver disease, vitamin K deficiency, or a specific...

PCAG - Overview: Protein C Antigen, Plasma

Differentiating congenital type I protein C deficiency from type II deficiency Evaluating the significance of decreased functional protein C, especially when decreased protein C activity might be congenital rather than acquired (eg, due...

CFX - Overview: Protein C Activity, Plasma

As an initial test for evaluating patients suspected of having congenital protein C deficiency, including those with personal or family histories of thrombotic events Detecting and confirming congenital type I and type II protein C...

HCYSS - Overview: Homocysteine, Total, Serum

An aid for screening patients suspected of having an inherited disorder of methionine metabolism including: -Cystathionine beta-synthase deficiency (homocystinuria) -Methylenetetrahydrofolate reductase deficiency and its thermolabile...

HCYSP - Overview: Homocysteine, Total, Plasma

An aid for screening patients suspected of having an inherited disorder of methionine metabolism including: -Cystathionine beta-synthase deficiency (homocystinuria) -Methylenetetrahydrofolate reductase deficiency and its thermolabile...

HTLLC - Overview: Human T-Cell Lymphotropic Virus Types 1 and 2 (HTLV-1/-2) Antibody Confirmation, Spinal Fluid

Confirmatory detection of human T-cell lymphotropic virus types 1 and 2 (HTLV-1 and HTLV-2)-specific IgG antibodies in spinal fluid specimens that are consistently reactive by initial screening tests Differentiating between HTLV-1- and...

FQPPS - Overview: Porphyrins, Feces

Evaluation of patients who present with signs or symptoms suggestive of porphyria cutanea tarda, hereditary coproporphyria, variegate porphyria, congenital erythropoietic porphyria, erythropoietic protoporphyria, or X-linked dominant...

QFEVR - Overview: Q Fever Antibody Screen with Titer Reflex, Serum

Screening for exposure to Coxiella burnetii, the causative agent of Q fever This test should not be used as a screening procedure for the general population.

SUAC - Overview: Succinylacetone, Blood Spot

Second-tier newborn screen for tyrosinemia type 1 (HT-1) when primary screen showed nonspecific elevations of tyrosine Diagnosing HT-1 when used in conjunction with testing for urine organic acids, liver function, alpha-fetoprotein, and...

HGEMS - Overview: Hydroxyglutaric Acids, Glutaric Acid, Ethylmalonic Acid, and Methylsuccinic Acid, Serum

Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using serum specimens Evaluation of patients with abnormal newborn screens showing elevations of C4- acylcarnitine to aid in the...

HGEMP - Overview: Hydroxyglutaric Acids, Glutaric Acid, Ethylmalonic Acid, and Methylsuccinic Acid, Plasma

Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using plasma specimens Evaluation of patients with abnormal newborn screens showing elevations of C4- acylcarnitine to aid in the...

Site Search

Second-Tier Assay for MPS I Newborn Screening Shows Remarkable Reduction of False Positives - Insights...

Mucopolysaccharidosis type I (MPS I) is a rare genetic disorder that typically presents with progressive multisystem involvement in early childhood. This condition results from the deficiency of the enzyme...

webinar on implementation of high-sensitivity troponin I assay - Insights

Cardiovascular Diseases, will be presenting a webinar on the implementation of a high-sensitivity troponin I assay. The webinar will be held February 13 from 1:00-2:00 p.m. eastern....

Should I Stay or Should I Go? - Insights

In this episode of “Lab Medicine Rounds,” host Justin Kreuter, M.D., and Rondell Graham, M.B.B.S., delve into the critical decisions involved in contemplating a role on the staff at the institution where you receive your training.

often oversimplified & misunderstood technology--Part I

In the last decade, genetic testing has evolved from single-gene Sanger based assays to much more complex next-generation sequencing (NGS) based assays.

inform novel treatments for kidney stones - Part I - Insights

A collaborative study between Mayo Clinic and the University of Illinois debunked the previous consensus about how kidney stones grow.