3MGAP - Overview: 3-Methylglutaconic Aciduria Panel, Varies

Follow up for abnormal biochemical results suggestive of 3-methylglutaconic aciduria (3-MGA) Establishing a molecular diagnosis for patients with 3-MGA Identifying variants within genes known to be associated with3-MGA, allowing for...

GNANT - Overview: Antithrombin Deficiency, SERPINC1 Gene, Next-Generation Sequencing, Varies

Evaluating antithrombin AT deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming an AT deficiency diagnosis with the identification of a known or suspected disease-causing...

MSUDP - Overview: Maple Syrup Urine Disease Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of maple syrup urine disease (MSUD) Establishing a molecular diagnosis for patients with MSUD Identifying variants within genes known to be associated with MSUD, allowing for...

MUPAN - Overview: Comprehensive Neuromuscular Gene Panel, Varies

Establishing a molecular diagnosis for patients with a neuromuscular disorder Identifying variants within genes known to be associated with neuromuscular disorders allowing for predictive testing of at-risk family members

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...

LSDGP - Overview: Lysosomal Storage Disease Gene Panel, Varies

Follow up for abnormal biochemical results and confirmation of suspected lysosomal storage disease (LSD) Establishing a molecular diagnosis for patients with LSD Identifying variants within genes known to be associated with LSD, allowing...

AHLP - Overview: AudioloGene Hearing Loss Panel, Varies

Establishing a diagnosis of a syndromic or nonsyndromic hereditary hearing loss disorder Identifying variants within genes known to be associated with hereditary hearing loss, allowing for predictive testing of at-risk family members

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...

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...

AMPIP - Overview: Amyloid Protein Identification, Paraffin, Mass Spectrometry

Definitive identification of amyloid proteins

ABIDR - Overview: Antibody Identification, Blood and Serum

Assessing positive pretransfusion antibody screens, transfusion reactions, hemolytic disease of the newborn, and autoimmune hemolytic anemias This test is not useful for monitoring the efficacy of Rh-immune globulin administration. This...

HKC - Overview: Hexokinase Enzyme Activity, Blood

The evaluation of individuals with Coombs-negative chronic hemolysis

GPIC - Overview: Glucose Phosphate Isomerase Enzyme Activity, Blood

The evaluation of individuals with Coombs-negative chronic hemolysis

FMBNY - Overview: Fetomaternal Bleed, New York, Blood

Determining the volume of fetal-to-maternal hemorrhage for the purposes of recommending an increased dose of the Rh immune globulin This test is used only for specimens collected in New York state.

FMB - Overview: Fetomaternal Bleed, Flow Cytometry, Blood

Determining the volume of fetal-to-maternal hemorrhage for the purposes of recommending an increased dose of the Rh immune globulin

AKC - Overview: Adenylate Kinase Enzyme Activity, Blood

Assessment of adenylate kinase activity as part of the evaluation of chronic nonspherocytic hemolytic anemia

PFKC - Overview: Phosphofructokinase Enzyme Activity, Blood

Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia Evaluation of individuals with exercise intolerance or myopathy Genetic studies in families with phosphofructokinase deficiency

PGKC - Overview: Phosphoglycerate Kinase Enzyme Activity, Blood

Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia, especially if X-linked inheritance pattern. Evaluation of individuals with myopathic or neurologic symptoms

TPIC - Overview: Triosephosphate Isomerase Enzyme Activity, Blood

Evaluating individuals with chronic nonspherocytic hemolytic anemia Evaluating individuals with early onset neurologic impairment Genetic counseling for families with triosephosphate isomerase deficiency

PROLX - Overview: Fluphenazine (Prolixin), Serum

Fluphenazine (Prolixin), Serum

PKC - Overview: Pyruvate Kinase Enzyme Activity, Blood

Evaluation of nonspherocytic hemolytic anemia as a part of a profile Evaluation of neonatal anemia or jaundice Evaluation of unexplained noninfectious hepatic failure Evaluation of unexplained iron overload Evaluation of unusually...

THIO - Overview: Thiopurine Metabolites, Whole Blood

Aids physicians in dose adjustments, minimizing dose-dependent toxicity, and monitoring compliance of thiopurine drug therapy

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...

ABTIR - Overview: Antibody Titer, Blood and Serum

Monitoring antibody levels during pregnancy to help assess the risk of hemolytic disease of the newborn This test is not useful for monitoring the efficacy of Rh-immune globulin administration.

CATTR - Overview: Cold Agglutinin Titer, Serum

Detection of cold agglutinins in patients with suspected cold agglutinin disease This test is not recommended to diagnose Mycoplasma pneumoniae infections.

GPI1 - Overview: Glucose Phosphate Isomerase Enzyme Activity, Blood

The evaluation of individuals with Coombs-negative chronic hemolysis

FDLS - Overview: Donath Landsteiner

Donath Landsteiner

FDGTX - Overview: Digitoxin, Serum

Digitoxin, Serum

FBACS - Overview: Baclofen, Serum

Baclofen, Serum

FISON - Overview: Isoniazid (INH)

Isoniazid (INH)

FOXFU - Overview: Oxycodone - Free (Unconjugated), Serum

Oxycodone - Free (Unconjugated), Serum

AK1 - Overview: Adenylate Kinase Enzyme Activity, Blood

Evaluation of chronic nonspherocytic hemolytic anemia

MALCT - Overview: Plasmodium Percent Parasitemia Reflex, Varies

Calculating percent parasitemia, which can be used to predict prognosis and monitor response to treatment for patients with malaria

BTR - Overview: Isoagglutinin Titer, Anti-B, Serum

Evaluation of individuals with possible hypogammaglobulinemia

FACES - Overview: Acetoacetate, Serum

Acetoacetate, Serum

FAEAB - Overview: Anti-Enterocyte Antibodies

Anti-Enterocyte Antibodies

HK1 - Overview: Hexokinase Enzyme Activity, Blood

The evaluation of individuals with Coombs-negative chronic hemolysis

FPALI - Overview: Paliperidone, Serum

Paliperidone, Serum

FSINS - Overview: Sinemet, Serum

Sinemet, Serum

FCBDS - Overview: Cannabidiol, Serum

Cannabidiol, Serum

PGK1 - Overview: Phosphoglycerate Kinase Enzyme Activity, Blood

Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia, especially if X-linked inheritance pattern Evaluation of individuals with myopathic or neurologic symptoms

PNYG - Overview: Phenytoin, Total and Phenobarbital Group, Serum

Monitoring for appropriate therapeutic concentration of phenytoin and phenobarbital Assessing compliance or toxicity

GSH - Overview: Glutathione, Blood

Evaluation of neonatal hyperbilirubinemia, favism or chronic or episodic hemolysis or jaundice Evaluation for gamma-glutamylcysteine synthetase deficiency Evaluation for glutathione synthetase deficiency causing hemolytic anemia...

FBUMT - Overview: Bupropion and Metabolite, Serum

Bupropion and Metabolite, Serum

HQ - Overview: HemoQuant, Feces

Detection of blood in feces Evaluation of iron deficiency Detection of bleeding as a complication of anticoagulant therapy and other medication regimens This test is not specific for bowel cancer.

PFK1 - Overview: Phosphofructokinase Enzyme Activity, Blood

Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia Evaluation of individuals with exercise intolerance or myopathy Genetic studies in families with phosphofructokinase deficiency

RASP - Overview: Raspberry, IgE, Serum

Establishing the diagnosis of an allergy to raspberry Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response and/or anaphylactic episode -To confirm sensitization prior...

FD10S - Overview: Drugs of Abuse Screen, Serum

Drugs of Abuse Screen, Serum

MAL - Overview: Rapid Malaria/Babesia Smear, Varies

Rapid and accurate detection and species identification of Plasmodium Detection of Babesia, trypanosomes, and some species of microfilariae

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...