SCCTV - Overview: Chlamydia trachomatis, Self-Collect, Amplified RNA, Vaginal

Detecting Chlamydia trachomatis using vaginal swabs collected by the patient in a healthcare setting This test is not intended for use in medico-legal applications. This test is not useful for the detection of other Chlamydia species.

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.

SCGCR - Overview: Neisseria gonorrhoeae, Self-Collect, Nucleic Acid Amplification, Rectal

Detecting Neisseria gonorrhoeae using rectal swabs collected by the patient in a healthcare setting This test is not intended for use in medico-legal applications.

SCGCT - Overview: Neisseria gonorrhoeae, Self-Collect, Nucleic Acid Amplification, Throat

Detecting Neisseria gonorrhoeae using throat swabs collected by the patient in a healthcare setting This test is not intended for use in medico-legal applications.

MGRNA - Overview: Neisseria gonorrhoeae, Miscellaneous Sites, Nucleic Acid Amplification, Varies

Detecting Neisseria gonorrhoeae in non-US Food and Drug Administration-approved specimen types This test is not intended for use in medico-legal applications.

SCGCV - Overview: Neisseria gonorrhoeae, Self-Collect, Amplified RNA, Vaginal

Detecting Neisseria gonorrhoeae using vaginal swabs collected by the patient in a healthcare setting This test is not intended for use in medico-legal applications.

PKU - Overview: Phenylalanine and Tyrosine, Plasma

Monitoring effectiveness of dietary therapy in patients with hyperphenylalaninemia

CHDGG - Overview: Congenital Heart Disease Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history of congenital heart disease Establishing a diagnosis of a genetic condition associated with congenital heart disease

GNPRS - Overview: Protein S Deficiency, PROS1 Gene, Next-Generation Sequencing, Varies

Evaluating protein S deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming a diagnosis of autosomal dominant protein S deficiency with the identification of a known or suspected...

PHEGP - Overview: Phenylalanine Disorders Gene Panel, Varies

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

GNPRC - Overview: Protein C Deficiency, PROC Gene, Next-Generation Sequencing, Varies

Evaluating protein C deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming a diagnosis of autosomal dominant protein C deficiency with the identification of a known or suspected...

BUAUC - Overview: Busulfan, Intravenous Dose, Area Under the Curve, Plasma

Guiding dosage adjustments to achieve complete bone marrow ablation while minimizing dose-dependent toxicity

UBKQN - Overview: BK Virus DNA Detection and Quantification, Random, Urine

Detection and serial monitoring of BK virus (BKV)-associated nephropathy in kidney transplant recipients using random urine specimens Detection and serial monitoring of BKV-associated hemorrhagic cystitis in organ transplant recipients

CTBID - Overview: Culture Referred for Identification, Mycobacterium and Nocardia, Varies

Rapid identification to the species level for Mycobacterium species, Nocardia species, and other aerobic actinomycete genera and species from pure culture isolates

TVRNA - Overview: Trichomonas vaginalis, Nucleic Acid Amplification, Varies

Detecting Trichomonas vaginalis in urine, cervical/endocervical or vaginal specimen types

TPMT3 - Overview: Thiopurine Methyltransferase Activity Profile, Erythrocytes

Detection of individuals with low thiopurine methyltransferase (TPMT) activity who are at risk for excessive myelosuppression or severe hematopoietic toxicity when taking thiopurine drugs Detection of individuals with hyperactive TPMT...

ALPS - Overview: Alpha Beta Double-Negative T Cells for Autoimmune Lymphoproliferative Syndrome, Blood

Diagnosing autoimmune lymphoproliferative syndrome, primarily in patients younger than 45 years

ADVQU - Overview: Adenovirus DNA Detection and Quantification, Plasma

Aiding in the diagnosis of disseminated adenovirus infections in at-risk individuals Measuring adenoviral load in plasma to monitor disease progression and antiviral response in individuals with disseminated infection

GALE - Overview: Uridine Diphosphate-Galactose 4' Epimerase, Blood

Diagnosis of uridine diphosphate-galactose 4' epimerase deficiency

VWD8B - Overview: von Willebrand Disease 2N (Subtype Normandy), Plasma

Diagnosing von Willebrand disease (VWD) type 2N Evaluating patients diagnosed with mild-to-moderate hemophilia A with an autosomal inheritance pattern Evaluating hemophilia A patients with a shortened survival of infused factor VIII...

HSMP - Overview: Hepatosplenomegaly Panel, Plasma

As a component to the initial evaluation of a patient presenting with hepatosplenomegaly, using plasma specimens This test is not useful for the identification of carriers. This test should not be used as a monitoring tool for patients...

HSMWB - Overview: Hepatosplenomegaly Panel, Blood

As a component of the initial evaluation of a patient presenting with hepatosplenomegaly This test is not useful for the identification of carriers. This test should not be used as a monitoring for patients with confirmed diagnoses.

HYOX - Overview: Hyperoxaluria Panel, Random, Urine

Distinguishing between primary and secondary hyperoxaluria Distinguishing between primary hyperoxaluria types 1, 2, and 3

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

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...

PMAOG - Overview: Postmortem Aortopathy Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to thoracic aortic dissection or with a personal or family history suggestive of Marfan syndrome, Loeys-Dietz syndrome, thoracic aortic...

PCGP - Overview: Porphyria Comprehensive Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of porphyria Establishing a molecular diagnosis for patients with porphyria Identifying variants within genes known to be associated with porphyria, allowing for predictive testing of...

GNF7 - Overview: Factor VII Deficiency, F7 Gene, Next-Generation Sequencing, Varies

Evaluating factor VII deficiency (FVIID) in patients with a personal or family history suggestive of FVIID Confirming an FVIID diagnosis with the identification of known or suspected disease-causing alterations in the F7 gene...

MEV1 - Overview: Methemoglobinemia Evaluation, Blood

Diagnosis of methemoglobinemia and sulfhemoglobinemia and possible hereditary (congenital) causes Differentiation of methemoglobinemia and sulfhemoglobinemia from other causes of cyanosis (eg, congenital heart disease)

UCDP - Overview: Urea Cycle Disorders Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a urea cycle disorder (UCD) Establishing a molecular diagnosis for patients with a UCD Identifying variants within genes known to be associated with UCD, allowing for predictive...

NAT2Q - Overview: N-Acetyltransferase 2 (NAT2) Genotype, Varies

Identifying patients who may be at risk for altered metabolism of drugs that are substrates of arylamine N-acetyltransferase type 2, including isoniazid

MTBPZ - Overview: Mycobacterium tuberculosis Complex, Pyrazinamide Resistance by pncA DNA Sequencing, Varies

Detection of genotypic resistance to pyrazinamide by Mycobacterium tuberculosis complex isolates

UBA1Q - Overview: UBA1 Mutation Quantitative Detection, VEXAS syndrome, Droplet Digital PCR, Varies

Identification of pathogenic variant(s) in the UBA1 gene in patients presenting with symptoms concerning for or consistent with VEXAS syndrome

DPYDZ - Overview: Dihydropyrimidine Dehydrogenase, DPYD Full Gene Sequencing, Varies

Identifying individuals at increased risk of toxicity when considering 5-fluorouracil and capecitabine chemotherapy treatment Identifying common and rare variants associated with decreased or absent dihydropyrimidine dehydrogenase (DPD)...

BADX - Overview: BCR/ABL1, Qualitative, Diagnostic Assay, Varies

Diagnostic workup of patients with a high probability of BCR::ABL1-positive hematopoietic neoplasms, predominantly chronic myeloid leukemia and acute lymphoblastic leukemia

ARSU - Overview: Arylsulfatase A, 24 Hour, Urine

Detection of arylsulfatase A deficiency using urine specimens This test is not suitable for carrier detection.

P53CA - Overview: Hematologic Neoplasms, TP53 Somatic Mutation, DNA Sequencing Exons 4-9, Varies

Evaluating chronic lymphocytic leukemia patients at diagnosis or during disease course for the presence of TP53 gene variants indicating high risk of disease progression and adverse outcomes This test is not intended for the evaluation of...

PCMSP - Overview: Postmortem Inherited Congenital Myasthenia Syndrome Gene Panel, Tissue

Identifying variants within genes known to be associated with congenital myasthenic syndrome, allowing for predictive testing of at-risk family members Providing a comprehensive postmortem genetic evaluation in the setting of a congenital...

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

GNHMB - Overview: Hemophilia B, F9 Gene, Next-Generation Sequencing, Varies

Confirming a clinical diagnosis of hemophilia B in affected male patients with the identification of a disease-causing variant in the F9 gene Determining the disease-causing alteration within the F9 gene to delineate the underlying...

PCDEC - Overview: Pediatric Autoimmune Encephalopathy/CNS Disorder Evaluation, Spinal Fluid

Evaluating children with autoimmune central nervous system disorders using spinal fluid specimens

SQTSG - Overview: Short QT Syndrome Gene Panel, Varies

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

BTWGS - Overview: Bacterial Typing, Whole Genome Sequencing, Varies

Aiding in the investigation of a potential outbreak by a single bacterial species May assist in identification of recurrent infection in an individual patient

CD20B - Overview: CD20 on B Cells, Blood

Evaluation of patients with a suspected CD19 deficiency (humoral immunodeficiency) Confirming complete absence of B cells in suspected primary humoral immunodeficiencies using both CD19 and CD20 markers Assessing therapeutic B-cell...

TFH - Overview: FH Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the FH gene to assist in tumor diagnosis/classification, including renal cell carcinoma, uterine/cutaneous leiomyoma, and pheochromocytoma/paraganglioma

FCOKE - Overview: Cocaine Analysis - Whole Blood

Cocaine Analysis - Whole Blood

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

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

10AIH - Overview: Factor X Inhibitor Profile, Professional Interpretation

Interpretation of the detection and quantitation of inhibitor to coagulation factor X

11AIH - Overview: Factor XI Inhibitor Profile, Professional Interpretation

Interpretation of testing for the detection and quantitation of inhibitor to coagulation factor XI

9AINH - Overview: Factor IX Inhibitor Profile, Professional Interpretation

Interpretation for the detection and titering of coagulation inhibitor to the specific factor requested, primarily factor IX in patients with hemophilia B