AVWPR - Overview: von Willebrand Disease Profile, Plasma

Detection of deficiency or abnormality of von Willebrand factor (VWF) and related deficiency of factor VIII coagulant activity Subtyping von Willebrand disease (VWD) as type 1 (most common), type 2 variants (less common), or type 3...

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...

NCYB - Overview: Recessive Congenital Methemoglobinemia, CYB5 and CYB5 Reductase Genetic Analysis, Next-Generation Sequencing, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of recessive congenital methemoglobinemia Genotype confirmation of borderline cytochrome b5 reductase (methemoglobin reductase: METR) enzyme activity...

GPSYW - Overview: Glucopsychosine, Blood

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

HEXAZ - Overview: Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies

Second-tier test for confirming a biochemical diagnosis of Tay-Sachs disease (TSD) Carrier testing of individuals with a family history of TSD but an affected individual is not available for testing or disease-causing mutations have not...

SIL2R - Overview: Interleukin-2 Receptor Alpha Soluble, Plasma

Measuring the concentration of soluble interleukin-2 receptor alpha (sIL-2r alpha) in plasma Aids in the diagnosis and evaluation of patients for lymphoproliferative disorders, including autoimmune lymphoproliferative syndrome,...

TRECS - Overview: T-Cell Receptor Excision Circles Analysis, Blood

Measuring T-cell output or reconstitution (thymopoiesis) following hematopoietic cell transplantation or highly active antiretroviral therapy Evaluating thymic function in patients with cellular or combined inborn errors of immunity...

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...

DHRP - Overview: Dihydrorhodamine Flow Cytometric Phorbol Myristate Acetate Test, Blood

Evaluating chronic granulomatous disease (CGD), X-linked and autosomal recessive forms, complete myeloperoxidase deficiency Monitoring chimerism and nicotinamide adenine dinucleotide phosphate oxidase (NOX) function post-hematopoietic cell...

DRV2 - Overview: Dilute Russell's Viper Venom Time (DRVVT) Mix, Plasma

Detecting the presence or helping to exclude the presence of lupus anticoagulants (LA) Identifying LA that do not prolong the activated partial thromboplastin time (APTT) Evaluating unexplained prolongation of the APTT or prothrombin time...