GATAS - Overview: GATA-Binding Protein 2, GATA2, Full Gene Analysis, Next-Generation Sequencing, Varies

Comprehensive evaluation of the GATA2 gene in patients with clinical or immunological symptoms suggestive of GATA-binding protein 2 (GATA2) deficiency Screening family members of patients with confirmed GATA2 deficiency

RSCGP - Overview: Nephrocalcinosis, Nephrolithiasis, and Renal Electrolyte Imbalance Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of nephrocalcinosis, nephrolithiasis, or renal electrolyte imbalance Establishing a diagnosis for a variety of hereditary...

MCP2Z - Overview: MECP2 Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis in individuals with features of Rett syndrome and MECP2-related disorders Identifying pathogenic variants within the MECP2 gene known to be associated with Rett syndrome and MECP2-related disorders,...

PMCAG - Overview: Postmortem Cardiomyopathy and Arrhythmia Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to cardiomyopathy or suspicious for cardiac arrhythmia or with a personal or family history suggestive of a hereditary form of...

NMEM - Overview: Red Blood Cell Membrane Disorders Gene Panel, Next-Generation Sequencing, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a red blood cell (RBC) membrane disorder Second-tier testing for patients in whom previous targeted gene variant analyses were...

PMCMG - Overview: Postmortem Cardiomyopathy Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to cardiomyopathy or with a personal or family history suggestive of a hereditary form of cardiomyopathy Identifying a disease-causing...

DHCRZ - Overview: Smith Lemli Opitz Syndrome, DHCR7 Gene, Full Gene Analysis, Varies

Follow up for abnormal biochemical results suggestive of Smith-Lemli-Opitz syndrome Establishing a molecular diagnosis for patients with Smith-Lemli-Opitz syndrome Identifying alterations within DHCR7 allowing for predictive testing of...

TYRGP - Overview: Tyrosine Disorders Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a tyrosine disorder Establishing a molecular diagnosis for patients with tyrosine disorders Identifying variants within genes known to be associated with tyrosine disorders,...

DCLNG - Overview: Dilated Cardiomyopathy and Left Ventricular Noncompaction Cardiomyopathy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of dilated cardiomyopathy or left ventricular noncompaction Establishing a diagnosis of a hereditary form dilated cardiomyopathy...

NENZ - Overview: Red Blood Cell Enzyme Disorders Gene Panel, Next-Generation Sequencing, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an underlying red blood cell enzymopathy Identifying variants within genes associated with phenotypic severity, allowing for...

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...

WNDZ - Overview: Wilson Disease, ATP7B Full Gene Sequencing with Deletion/Duplication, Varies

Confirming the diagnosis of Wilson disease

FCDU5 - Overview: Amphetamines, Umbilical Cord Tissue

Amphetamines, Umbilical Cord Tissue

FCDU8 - Overview: Dextro/Levo Methorphan, Umbilical Cord Tissue

Dextro/Levo Methorphan, Umbilical Cord Tissue

FA13R - Overview: Factor 13 1:1 Mix

Factor 13 1:1 Mix

FCDU6 - Overview: Cocaine and Metabolites, Umbilical Cord Tissue

Cocaine and Metabolites, Umbilical Cord Tissue

FCDU7 - Overview: Cannabinoids, Umbilical Cord Tissue

Cannabinoids, Umbilical Cord Tissue

FCDU4 - Overview: Novel Psychoactives, Umbilical Cord Tissue

Novel Psychoactives, Umbilical Cord Tissue

FCDU9 - Overview: Muscle Relaxants, Umbilical Cord Tissue

Muscle Relaxants, Umbilical Cord Tissue

HHTGG - Overview: Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary hemorrhagic telangiectasia (HHT), cerebral cavernous malformation (CCM), capillary malformation-arteriovenous malformation syndrome...

BUPR - Overview: Buprenorphine Screen with Reflex, Random, Urine

Screening and confirmation for drug abuse or use of buprenorphine

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.

A124 - Overview: Alpha-1-Microglobulin, 24 Hour, Urine

Assessment of renal tubular injury or dysfunction using 24-hour urine collections Screening for tubular abnormalities Detecting chronic asymptomatic renal tubular dysfunction(2)

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.

EMAIG - Overview: Endomysial Antibodies, IgG, Serum

Analysis of IgG-endomysial antibodies for the diagnosis of dermatitis herpetiformis and celiac disease Monitoring adherence to gluten-free diet in patients with dermatitis herpetiformis and celiac disease

CMVG - Overview: Cytomegalovirus (CMV) Antibodies, IgG, Serum

Determining whether a patient (especially transplant recipients and organ and blood donors) has had a recent infection or previous exposure to cytomegalovirus

CMAFF - Overview: Chromosomal Microarray (CMA) Familial Testing, FISH

Determining the inheritance pattern of copy number changes previously identified by chromosomal microarray analysis in a patient and aiding in the clinical interpretation of the pathogenicity of the copy number change

BMIPB - Overview: Borrelia miyamotoi Detection, PCR, Blood

Aiding in the diagnosis of Borrelia miyamotoi infection in conjunction with clinical findings Preferred method for detection of B miyamotoi using blood specimens

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.

CORTF - Overview: Cortisol, Free, Serum

Assessment of cortisol status in cases where there is known or a suspected abnormality in cortisol-binding proteins or albumin Assessment of adrenal function in the critically ill or stressed patient, thus preventing unnecessary use of...

EMA - Overview: Endomysial Antibodies, IgA, Serum

Analysis of IgA-endomysial antibodies for the diagnosis of dermatitis herpetiformis and celiac disease Monitoring adherence to gluten-free diet in patients with dermatitis herpetiformis and celiac disease

UHBAG - Overview: Histoplasma and Blastomyces Antigen, Enzyme Immunoassay, Urine

Diagnosing Histoplasma capsulatum or Blastomyces dermatitidis infection, without differentiation between the organisms, using random urine specimens Monitor antigen levels following initiation of antifungal treatment

LAGU - Overview: Legionella Antigen, Random, Urine

An adjunct to culture for the detection of past or current Legionnaires disease (Legionella pneumophila serogroup 1)

KI67B - Overview: Ki-67(MIB-1), Breast, Quantitative Immunohistochemistry, Automated

Determining proliferation of tumor cells in paraffin-embedded tissue blocks from patients diagnosed with breast carcinoma

MPS3W - Overview: Mucopolysaccharidosis III, Four-Enzyme Panel, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidoses types IIIA, IIIB, IIIC, IIID This test is not useful for carrier detection.

I2SWB - Overview: Iduronate-2-Sulfatase, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidosis II (MPS II; Hunter syndrome) in whole blood specimens This test is not useful for carrier detection for MPS II.

GDU - Overview: Gadolinium, 24 Hour, Urine

Assessing chronic exposure and monitoring effectiveness of dialysis in a 24-hour urine collection

HGUCR - Overview: Mercury/Creatinine Ratio, Random, Urine

Detecting mercury toxicity, a toxic heavy metal, using random urine specimens

ROPG - Overview: Measles (Rubeola) Antibodies, IgG, Serum

Determining immune status of individuals to the measles virus Documenting previous infection with measles virus in an individual without a previous record of immunization to measles virus

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.

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.

PLPMA - Overview: Prolactin, Pituitary Macroadenoma, Serum

Quantifying prolactin in serum specimens where the high-dose hook effect is suspected (eg, presence of pituitary tumor with symptoms of prolactinoma, and lower than expected serum prolactin concentration)

RBPG - Overview: Rubella Antibodies, IgG, Serum

Determining immune status to the rubella virus

PARVP - Overview: Parvovirus B19, Molecular Detection, PCR, Plasma

Diagnosing parvovirus B19 infection in plasma specimens

RPRT1 - Overview: Rapid Plasma Reagin (RPR) Screen with Reflex to Titer, Serum

Determining the current disease status Monitoring response to therapy for syphilis Aid to diagnose congenital syphilis This test cannot be used for testing spinal fluid specimens. This test is not intended for medical-legal use.

TSTIM - Overview: Targeted Stimulant Screen, Random, Urine

Aiding in the determination of compliance or identify illicit stimulant drug use This test is not intended for use in employment-related testing.

TSPU - Overview: Targeted Stimulant Screen, Random, Urine

Determining compliance or identifying illicit stimulant drug use This test is not intended for employment-related testing.

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

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

Determining whether a T-cell population is polyclonal or monoclonal

SBULB - Overview: Spinobulbar Muscular Atrophy (Kennedy Disease), Molecular Analysis, Varies

Molecular confirmation of clinically suspected cases of sporadic or familial spinobulbar muscular atrophy (SBMA) Presymptomatic testing for individuals with a family history of SBMA and a documented expansion in the androgen receptor (AR)...