WBGDD - Overview: Beta-Globin Gene Cluster, Deletion/Duplication, Varies

Determining the etiology of hereditary persistence of fetal hemoglobin (HPFH), delta-beta thalassemia, or other large deletions involving the beta-globin gene cluster Diagnosing less common causes of beta thalassemia; these large...

BCRAB - Overview: BCR/ABL1, p210, mRNA Detection, Reverse Transcription-PCR (RT-PCR), Quantitative, Monitoring Chronic Myeloid Leukemia (CML), Varies

Monitoring response to therapy in patients with chronic myeloid leukemia who are known to have the e13/a2 or e14/a2 BCR/ABL1 fusion transcript forms

ANAES - Overview: Bacterial Culture, Anaerobic with Antimicrobial Susceptibilities, Varies

Diagnosing anaerobic bacterial infections Directing antimicrobial therapy for anaerobic infections

NR4A3 - Overview: NR4A3 (9q22.33) Rearrangement, FISH, Tissue

Identifying NR4A3 gene rearrangements Supporting the diagnosis of extraskeletal myxoid chondrosarcoma or acinic cell carcinoma when used in conjunction with an anatomic pathology consultation

EHBAP - Overview: Ehrlichia/Babesia Antibody Panel, Immunofluorescence, Serum

As an adjunct in the diagnosis of infection with Anaplasma phagocytophilum, Ehrlichia chaffeensis, or Babesia microti Seroepidemiological surveys of the prevalence of the infection in certain populations

GALTP - Overview: Galactose-1-Phosphate Uridyltransferase Biochemical Phenotyping, Erythrocytes

Determining the biochemical phenotype for galactosemia when enzymatic and molecular results are incongruent

NSAI - Overview: Neurosyphilis IgG, Antibody Index, Spinal Fluid

Aid in the diagnosis of neuroinvasive syphilis as part of a profile

3A4Q - Overview: Cytochrome P450 3A4 Genotype, Varies

Aids in determining therapeutic strategies for drugs that are metabolized by cytochrome P450 3A4, including atorvastatin, simvastatin, and lovastatin This test is not useful for managing patients receiving fluvastatin, rosuvastatin, or...

SAU - Overview: Sialic Acid, Free and Total, Random, Urine

Screening for sialic acid disorders

BGA - Overview: Beta-Galactosidase, Leukocytes

Aiding in the diagnosis of GM1 gangliosidosis, Morquio B disease, and galactosialidosis This test is not suitable for carrier detection.

MMLSG - Overview: Antimicrobial Susceptibility, Acid-Fast Bacilli, Slowly Growing, Varies

Determination of resistance of slowly growing mycobacteria to antimicrobial agents

F68KD - Overview: 68kD (hsp-70) antibodies by Line Blot

68kD (hsp-70) antibodies by Line Blot

FWFHG - Overview: Venom W-F Hornet IgG

Venom W-F Hornet IgG

FHOBG - Overview: Venom Honey Bee IgG

Venom Honey Bee IgG

GNF11 - Overview: Hemophilia C (Factor XI Deficiency), F11 Gene, Next-Generation Sequencing, Varies

Evaluating factor XI deficiency (FXID) in patients with a personal or family history suggestive of FXID Confirming an FXID diagnosis with the identification of known or suspected disease-causing alterations in the F11 gene Determining...

GNF13 - Overview: Factor XIII Deficiency, F13A1 and F13B Genes, Next-Generation Sequencing, Varies

Evaluating factor XIII deficiency (FXIIID) in patients with a personal or family history suggestive of FXIIID Confirming an FXIIID diagnosis with the identification of known or suspected disease-causing alterations in the F13A1 or F13B...

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...

SCN5A - Overview: Brugada Syndrome, SCN5A Full Gene Analysis, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Brugada syndrome Establishing a diagnosis of Brugada syndrome

REVE2 - Overview: Erythrocytosis Evaluation, Blood

Definitive, comprehensive, and economic evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased hemoglobin or hematocrit

PQNRU - Overview: Porphyrins, Quantitative, Random, Urine

Preferred test to begin assessment for congenital erythropoietic porphyria and porphyria cutanea tarda and during symptomatic periods for acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria when specimen...

21DOC - Overview: 21-Deoxycortisol, Serum

As an adjunct to measurement of 17-hydroxyprogesterone, androstenedione, and cortisol in the diagnosis of difficult cases of suspected 21-hydroxylase (CYP21A2) deficiency Identifying heterozygote CYP21A2 deficiency carriers As an adjunct...

OHPG - Overview: 17-Hydroxyprogesterone, Serum

Screening test for congenital adrenal hyperplasia (CAH), caused by either 11- or 21-hydroxylase deficiency, when used in combination with testing for cortisol and androstenedione As part of a battery of tests to evaluate women with...

XALDZ - Overview: X-Linked Adrenoleukodystrophy, Full Gene Analysis, Varies

Confirming a diagnosis of X-linked adrenoleukodystrophy Identifying a variant in the ABCD1 gene

2HGA - Overview: 2-Hydroxyglutaric Acid Chiral Analysis, Quantitative, Random, Urine

Determining type of 2-hydroxyglutaric aciduria by chiral analysis of urine

LPCBS - Overview: Lysophosphatidylcholines, LC MS/MS, Blood Spot

Second-tier newborn screen for X-linked adrenoleukodystrophy This test is not intended for metabolic screening of symptomatic patients. This test is supplemental and not intended to replace state mandated newborn screening.

PSF - Overview: Protein S Antigen, Free, Plasma

As part of an investigation of patients with a history of thrombosis

TGMS - Overview: Thyroglobulin Mass Spectrometry, Serum

Accurate measurement of serum thyroglobulin (Tg) in patients with known or suspected antithyroglobulin autoantibodies (TgAb) or heterophile antibodies (HAb) Reflex testing of samples with previously unknown TgAb status that prove TgAb...

HIQNP - Overview: HIV-1 RNA Detection and Quantification, Prenatal, Plasma

Diagnosis of HIV-1 infection in pregnant individuals with acute or early HIV-1 infection Quantifying plasma HIV-1 RNA levels (viral load) in pregnant individuals living with HIV-1: -Before initiating anti-HIV-1 drug therapy (baseline viral...

QHV6P - Overview: Human Herpesvirus-6 A and B DNA Detection and Quantification, PCR, Plasma

As an adjunct in the rapid diagnosis of human herpesvirus-6 infection using plasma specimens This test should not be used to screen asymptomatic patients

FABRZ - Overview: Fabry Disease, Full Gene Analysis, Varies

Confirmation of a diagnosis of classic or variant Fabry disease in affected males with reduced alpha- galactosidase A enzyme activity Carrier or diagnostic testing for asymptomatic or symptomatic females, respectively

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...

MPS2R - Overview: Endogenous Mucopolysaccharidosis Type II (I2S [Iduronate-2-Sulfatase]) Biomarker Reflex, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type II (MPS II, decreased iduronate-2-sulfatase) where quantitation of the glycosaminoglycans dermatan and heparan sulfate is desired in...

IGGS - Overview: IgG Subclasses, Serum

Second-order testing for evaluation of patients with clinical signs and symptoms of humoral immunodeficiency or combined immunodeficiency (cellular and humoral)

LNBAI - Overview: Lyme Central Nervous System Infection IgG, Antibody Index, Spinal Fluid

Providing antibody index information to aid in the diagnosis of neuroinvasive Lyme disease or neuroborreliosis due to Borrelia species associated with Lyme disease (eg, Borrelia burgdorferi, Borrelia garinii, Borrelia afzelli)

ALKT - Overview: ALK Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying mutations within the ALK gene that predict resistance to ALK-inhibitors

ALDG2 - Overview: Autoimmune Liver Disease Panel, Serum

Evaluating patients with suspected autoimmune liver disease, specifically autoimmune hepatitis or primary biliary cholangitis Evaluating patients with liver disease of unknown etiology

AACSF - Overview: Amino Acids, Quantitative, Spinal Fluid

Evaluating patients with possible inborn errors of amino acid metabolism, particularly nonketotic hyperglycinemia (glycine encephalopathy) and serine biosynthesis defects, especially when used in conjunction with concomitantly collected...

TFE3F - Overview: Alveolar Soft Part Sarcoma (ASPS)/Renal Cell Carcinoma (RCC), Xp11.23 (TFE3), FISH, Tissue

An aid in the diagnosis of alveolar soft-part sarcoma or renal cell carcinoma variant when used in conjunction with an anatomic pathology consultation

BRCAT - Overview: BRCA1/2 Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the BRCA1 and BRCA2 genes known to be associated with response to PARP inhibitors and sensitivity to platinum-based therapy This test is not intended for the evaluation of patients suspected of having...

BRFKT - Overview: BRAF and KIT Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the BRAF and KIT genes that predict response to therapy

MLH1 - Overview: MLH1 Immunostain, Technical Component Only

Evaluation of tumor tissue to identify patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome Evaluation of tumor tissue to identify patients at risk for having hereditary endometrial...

SHBG1 - Overview: Sex Hormone-Binding Globulin, Serum

Diagnosis and follow-up of women with signs or symptoms of androgen excess (eg, polycystic ovarian syndrome and idiopathic hirsutism) An adjunct in monitoring sex-steroid and antiandrogen therapy An adjunct in the diagnosis of disorders...

CELI - Overview: Celiac Associated HLA-DQ Alpha 1 and DQ Beta 1 DNA Typing, Blood

Assessing risk of celiac disease

COMTQ - Overview: Catechol-O-Methyltransferase (COMT) Genotype, Varies

Prediction of response to nicotine replacement therapy for smoking cessation Investigation of inhibitor dosing for decreasing levodopa metabolism Research use for assessing estrogen metabolism

DRVI2 - Overview: Dilute Russell's Viper Venom Time (DRVVT) Mix Ratio, 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...

METRN - Overview: Metanephrines, Fractionated, Random, Urine

A second-order screening test for the presumptive diagnosis of pheochromocytoma in patients with non-episodic hypertension Confirming positive plasma metanephrine results in patients with non-episodic hypertension

ALAGP - Overview: Alagille Syndrome Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Alagille syndrome Establishing a diagnosis of Alagille syndrome

CHRCV - Overview: Chromosome Analysis, Chorionic Villus Sampling

Prenatal diagnosis of chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and balanced rearrangements This test is not appropriate as a first-tier test for detecting gains or losses of chromosomal material in...

CTB - Overview: Mycobacteria and Nocardia Culture, Varies

Detection and identification of Mycobacterium species, Nocardia species, and other aerobic actinomycetes

2AINH - Overview: Factor II Inhibitor Profile, Professional Interpretation

Interpretation of testing for the detection and quantitation of inhibitor to factor II