FOXP1 - Overview: FOXP1 Immunostain, Technical Component Only

Classification of lymphomas

TCGBM - Overview: T-Cell Receptor Gene Rearrangement, PCR, Bone Marrow

Determining whether a T-cell population is polyclonal or monoclonal

TCGR - Overview: T-Cell Receptor Gene Rearrangement, PCR, Blood

Determining whether a T-cell population is polyclonal or monoclonal using blood specimens

MSDW - Overview: Multiple Sulfatase Deficiency, Leukocytes

Supporting the biochemical diagnosis of multiple sulfatase deficiency in whole blood specimens This test is not useful for carrier detection.

FCDSU - Overview: Comprehensive Drug Screen, Umbilical Cord Tissue

Comprehensive Drug Screen, Umbilical Cord Tissue

GLP - Overview: Glucagon, Plasma

Diagnosis and follow-up of glucagonomas and other glucagon-producing tumors Assessing diabetic patients with problematic hyper- or hypoglycemic episodes (extremely limited utility)

FFCAH - Overview: Congenital Adrenal Hyperplasia (CAH) Pediatric Profile 6, Comprehensive Screen

Congenital Adrenal Hyperplasia (CAH) Pediatric Profile 6, Comprehensive Screen

LH - Overview: Luteinizing Hormone (LH), Serum

An adjunct in the evaluation of menstrual irregularities Evaluating patients with suspected hypogonadism Predicting ovulation Evaluating infertility Diagnosing pituitary disorders

EOSDF - Overview: Chronic Eosinophilia, Diagnostic FISH, Varies

Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement (including PDGFRA, PDGFRB, FGFR1, JAK2, and ABL1). Supporting the...

G6PDC - Overview: Glucose 6 Phosphate Dehydrogenase Enzyme Activity, Blood

Evaluation of individuals with episodic or chronic Coombs-negative nonspherocytic hemolytic anemia Rapid testing to assess glucose-6-phosphate dehydrogenase (G6PD) enzyme capacity prior to rasburicase or other therapies that may cause...

NEPHP - Overview: Comprehensive Nephrology Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary kidney disease Establishing a diagnosis for a variety of hereditary kidney conditions including focal segmental glomerulosclerosis,...

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

LRBA - Overview: Lipopolysaccharide-Responsive Beige-Like Anchor Protein (LRBA) Deficiency, Blood

Aiding in the diagnosis of lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency This test is not useful for identifying a carrier status for LRBA deficiency.

SSCTU - Overview: S-Sulfocysteine Panel, Urine

Diagnosis of molybdenum cofactor deficiency, isolated sulfite oxidase deficiency, and hereditary xanthinuria Monitoring patients with molybdenum cofactor deficiency or isolated sulfite oxidase deficiency who are on treatment

ALBLD - Overview: Bleeding Diathesis Profile, Limited, Plasma

Detection of the more common potential causes of abnormal bleeding (eg, factor deficiencies/hemophilia, von Willebrand disease, factor-specific inhibitors) and a simple screen to evaluate for an inhibitor or severe deficiency of factor XIII...

TALPF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Pediatric, Varies

Detecting, at diagnosis, recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) in pediatric/young adult patients As an adjunct to conventional chromosome studies in pediatric/young...

NCLW - Overview: Neuronal Ceroid Lipofuscinosis, Two-Enzyme Panel, Leukocytes

Supporting the biochemical diagnosis of two neuronal ceroid lipofuscinoses, CLN1 and CLN2 in whole blood specimens This test is not useful for carrier detection.

LHPED - Overview: Luteinizing Hormone (LH), Pediatrics, Serum

Diagnosis of precocious puberty and delayed puberty in children

ARSBW - Overview: Arylsulfatase B, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) in whole blood specimens This test is not useful for carrier detection.

ARBI - Overview: Acetylcholine Receptor (Muscle AChR) Binding Antibody, Serum

Supporting the diagnosis of autoimmune myasthenia gravis (MG) in adults and children Distinguishing autoimmune from congenital MG in adults and children or other acquired forms of neuromuscular junction transmission disorders An adjunct...

GUSBB - Overview: Beta-Glucuronidase, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidosis VII (MPS VII, Sly syndrome) This test is not useful for determining carrier status for MPS VII.

TCGRV - Overview: T-Cell Receptor Gene Rearrangement, PCR, Varies

Determining whether a T-cell population is polyclonal or monoclonal using body fluid or tissue specimens

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...

SCARA - Overview: Spinocerebellar Ataxia Type 1, 2, 3, 6, or 7, Repeat Expansion Analysis, Varies

Diagnostic or predictive testing when clinical symptoms or a family history are specific to only one type of spinocerebellar ataxia

PWAS - Overview: Prader-Willi/Angelman Syndrome, Molecular Analysis, Varies

Confirmation of diagnosis in patients suspected of having either Prader-Willi syndrome (PWS) or Angelman syndrome (AS) based on clinical assessment or previous laboratory analysis Prenatal diagnosis in families at risk for PWS or AS

G6PD1 - Overview: Glucose 6-Phosphate Dehydrogenase Enzyme Activity, Blood

Evaluation of individuals with episodic or chronic Coombs-negative nonspherocytic hemolytic anemia Rapid testing to assess glucose 6-phosphate dehydrogenase (G6PD) enzyme capacity prior to rasburicase or other therapies that may cause...

PSYCF - Overview: Psychosine, Spinal Fluid

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

BTDZ - Overview: Biotinidase Deficiency, BTD Full Gene Analysis, Varies

Second-tier test for confirming biotinidase deficiency (indicated by biochemical testing or newborn screening) Carrier testing of individuals with a family history of biotinidase deficiency, but disease-causing mutations have not been...

AATHR - Overview: Thrombophilia Profile, Plasma and Whole Blood

Evaluating patients with thrombosis or hypercoagulability states Detecting a lupus-like anticoagulant; dysfibrinogenemia; disseminated intravascular coagulation/intravascular coagulation and fibrinolysis Detecting a deficiency of...

OIBFG - Overview: Osteogenesis Imperfecta and Bone Fragility Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive osteogenesis imperfecta and other hereditary conditions associated with bone fragility

QMPSS - Overview: Monoclonal Protein Study, Quantitative, Serum

Aiding in the diagnosis and monitoring of monoclonal gammopathies, when used in conjunction with free light chain studies This test alone is not considered an adequate screen for monoclonal gammopathies.

PAI1 - Overview: Plasminogen Activator Inhibitor Antigen, Plasma

Identification of heredity elevation or deficiency of plasminogen activator inhibitor type 1 Determination of risk for veno-occlusive disease associated with bone marrow transplantation Differential diagnosis of impaired fibrinolysis...

CULFB - Overview: Fibroblast Culture for Biochemical or Molecular Testing, Chorionic Villi/Products of Conception/Tissue

Producing cell cultures that can be used for enzymatic or molecular genetic analysis

MSDBS - Overview: Multiple Sulfatase Deficiency, Blood Spot

Supporting the biochemical diagnosis of multiple sulfatase deficiency This test is not useful for carrier detection.

NCLBS - Overview: Neuronal Ceroid Lipofuscinosis, Two-Enzyme Panel, Blood Spot

Supporting the biochemical diagnosis of two neuronal ceroid lipofuscinoses, CLN1 and CLN2 This test is not useful for carrier detection.

MPS4W - Overview: Mucopolysaccharidosis IV Enzyme Panel, Leukocytes

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

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...

TCP - Overview: T-Cell Subsets, Naive, Memory, and Activated, Blood

Determining the presence of naive, memory, and activated T cells in various clinical contexts including autoimmune diseases, immunodeficiency states, T-cell recovery post-hematopoietic stem cell transplant, DiGeorge syndrome, and as a...

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)...

SLC1Q - Overview: Solute Carrier Organic Anion Transporter Family Member 1B1 (SLCO1B1) Genotype, Statin, Varies

Predicting risk for statin-associated myopathy in patients beginning statin therapy, especially simvastatin therapy Determining a potential statin lipid lowering response, especially when using pravastatin

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...

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...

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

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...

CMVC8 - Overview: Cytomegalovirus (CMV) CD8 T-Cell Immune Competence, Quantitative Assessment by Flow Cytometry, Blood

Assessing cytomegalovirus (CMV)-specific immune competence in allo-hematopoietic stem cell transplantation patients who are at risk for developing late CMV disease (beyond day 100 after transplant) Assessing CMV-specific immune competence...

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,...

VEDOZ - Overview: Vedolizumab Quantitation with Antibodies, Serum

Assessing for primary or secondary loss of response to therapy with vedolizumab An aid to achieving desired serum concentrations of vedolizumab

VEDOL - Overview: Vedolizumab Quantitation with Reflex to Antibodies, Serum

Assessing the response to therapy with vedolizumab An aid to achieving desired trough serum concentration of vedolizumab

WGSEQ - Overview: Gamma-Globin Full Gene Sequencing, Varies

An adjunct in the interpretation of hemoglobin electrophoresis results Evaluation for suspected gamma variants or nondeletional hereditary persistence of fetal hemoglobin Assessment of unstable gamma chain variants when other tests for...

ARSBB - Overview: Arylsulfatase B, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) This test is not useful for carrier detection for MPS VI