BHDZ - Overview: Birt-Hogg-Dube Syndrome, FLCN, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of Birt-Hogg-Dube (BHD) syndrome Establishing a diagnosis of BHD syndrome allowing for targeted cancer surveillance based on associated risks Identifying variants within...

B2GMG - Overview: Beta-2 Glycoprotein 1 Antibodies, IgG and IgM, Serum

Evaluating patients with suspected antiphospholipid syndrome by identification of beta-2 glycoprotein 1 IgM and IgG antibodies First-line test when antiphospholipid syndrome is strongly suspected in conjunction with cardiolipin antibodies...

CPVTG - Overview: Catecholaminergic Polymorphic Ventricular Tachycardia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of catecholaminergic polymorphic ventricular tachycardia (CPVT) Establishing a diagnosis of CPVT

HCMGG - Overview: Hypertrophic Cardiomyopathy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of hypertrophic cardiomyopathy Establishing a diagnosis of a hereditary form of hypertrophic cardiomyopathy

MTBRP - Overview: Mycobacterium tuberculosis Complex, Molecular Detection, PCR, Varies

Rapid detection of Mycobacterium tuberculosis complex DNA (preferred method) Detection of M tuberculosis, when used in conjunction with mycobacterial culture This test does not assess M tuberculosis rifampin resistance. This test...

MBX - Overview: Muscle Pathology Consultation

Obtaining a rapid, expert opinion on muscle biopsy specimens for diagnosis of acquired or inherited muscle diseases Guiding treatment and genetic testing, as well as investigating relevance of genetic variants of unknown significance

MSP3 - Overview: Multiple Sclerosis (MS) Cascade, Serum and Spinal Fluid

Diagnosing multiple sclerosis, especially helpful in patients with equivocal clinical or radiological findings

PMSBB - Overview: Postmortem Screening, Bile and Blood Spot

Postmortem evaluation of individuals at any age who died suddenly or unexpectedly; testing is particularly recommended under the following circumstances (risk factors): -Family history of sudden infant death syndrome or other sudden...

EEEV1 - Overview: Red Blood Cell (RBC) Enzyme Evaluation, Blood

Identifying defects of red blood cell enzyme metabolism Evaluating patients with Coombs-negative hemolytic anemia

PMHLH - Overview: Postmortem Primary Hemophagocytic Lymphohistiocytosis (HLH) Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a death attributed to primary hemophagocytic lymphohistiocytosis Identifying a disease-causing variant in the decedent, which may assist with risk assessment and...

PCPRO - Overview: Plasma Cell DNA Content and Proliferation, Bone Marrow

Establishing a diagnosis of a plasma cell proliferative disorder Providing prognostic information for newly diagnosed multiple myeloma and other plasma cell proliferative disorders Assessing response to therapy and detecting disease...

PNTOR - Overview: Streptococcus pneumoniae IgG Antibodies, Total, with Reflex, Serum

Assessing the IgG antibody response to active immunization with nonconjugated 23-valent pneumococcal vaccines Assessing the IgG antibody response to active immunization with conjugated 13-valent, 15-valent and 20-valent pneumococcal...

FB12 - Overview: Vitamin B12 and Folate, Serum

Investigation of macrocytic anemia Workup of deficiencies seen in megaloblastic anemias Investigation of suspected folate deficiency

3A5Q - Overview: Cytochrome P450 3A5 Genotype, Varies

Aids in optimizing treatment with tacrolimus and other drugs metabolized by cytochrome P450 3A5

TICKS - Overview: Tick-Borne Disease Antibodies Panel, Serum

Evaluation of the most common tick-borne diseases found in the United States, including Lyme disease, human monocytic and granulocytic ehrlichiosis, and babesiosis Evaluation of patients with a history of, or suspected, tick exposure who...

QNADL - Overview: Adalimumab Quantitative, Serum

Therapeutic drug monitoring of adalimumab concentration

APOL1 - Overview: APOL1 Genotype, Varies

Determining an individual's APOL1 genotype This test is not useful for clinical management of individuals with APOL1 risk genotypes. This test alone is not useful for determining eligibility for donation or receipt of kidney...

ABADL - Overview: Adalimumab Antibody, Serum

Therapeutic drug monitoring of adalimumab antibody levels

ADALX - Overview: Adalimumab Quantitative with Reflex to Antibody, Serum

Therapeutic drug monitoring of adalimumab concentration and antibody levels, if appropriate

CDIFS - Overview: Clostridioides difficile Culture with Antimicrobial Susceptibilities, Varies

Providing an isolate suitable for antimicrobial susceptibility testing to direct antimicrobial therapy of extraluminal infections and in cases of treatment failure

NUTHX - Overview: Hazelnut-Food Components, IgE, Serum

Evaluation of patients with suspected hazelnut-food allergy to one of 4 hazelnut-food components

NUTHR - Overview: Hazelnut-Food, IgE with Reflex to Hazelnut-Food Components, IgE, Serum

Evaluation of patients with suspected hazelnut-food allergy

PSTF - Overview: Protein S Antigen, Plasma

Investigation of patients with a history of thrombosis

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...

TCRB - Overview: T-Cell Receptor V-Beta Repertoire Analysis, Spectratyping, Blood

Assessment of T-cell receptor diversity in various clinical contexts including inborn errors of immunity (formerly primary immunodeficiencies), monitoring immune reconstitution post-hematopoietic stem cell transplantation, and temporal...

WARSQ - Overview: Warfarin Response Genotype, Varies

Identifying patients who may require warfarin dosing adjustments(3,4) including: -Patients being started on a first prescription for warfarin -Patients who have previously been prescribed warfarin and have required multiple dosing...

NCLGP - Overview: Neuronal Ceroid Lipofuscinosis (Batten Disease) Gene Panel, Varies

Follow up for abnormal biochemical or electron microscopy results suspicious for neuronal ceroid lipofuscinoses (NCL) Establishing a molecular diagnosis for patients with NCL Identifying variations within genes known to be associated with...

ADALP - Overview: Adalimumab Quantitative with Antibody, Serum

Therapeutic drug monitoring of adalimumab concentration and antibody levels

LPMGF - Overview: Lymphocyte Proliferation to Mitogens, Blood

Assessing T-cell function in patients on immunosuppressive therapy, including solid-organ transplant patients Evaluating patients suspected of having impairment in cellular immunity Evaluation of T-cell function in patients with primary...

LPAGF - Overview: Lymphocyte Proliferation to Antigens, Blood

Assessing T-cell function in patients on immunosuppressive therapy, including solid-organ transplant patients Evaluating patients suspected of having impairment in cellular immunity Evaluation of T-cell function in patients with primary...

INFXP - Overview: Infliximab Quantitation with Antibodies to Infliximab, Serum

Trough level quantitation for evaluation of patients undergoing therapy with infliximab for proactive or reactive therapeutic drug monitoring.

FXS - Overview: Fragile X Syndrome, Molecular Analysis, Varies

Confirming a diagnosis of fragile X syndrome, fragile X tremor/ataxia syndrome, or premature ovarian insufficiency caused by expansions in the FMR1 gene Determining carrier status for individuals with a family history of fragile X...

CCMGG - Overview: Comprehensive Cardiomyopathy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of cardiomyopathy Establishing a diagnosis of a hereditary form of cardiomyopathy

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

NHEM - Overview: Hereditary Erythrocytosis Focused Gene Panel, Next-Generation Sequencing, Varies

Focused evaluation of an individual with JAK2-V617F negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, hemoglobin, or hematocrit Providing a focused genetic evaluation for patients with a...

SNS - Overview: Supplemental Newborn Screen, Blood Spot

Presymptomatic identification of disorders to allow for early initiation of treatment and consequent improvement in the long-term prognosis of affected patients The conditions identifiable by amino acid and acylcarnitine analysis are...

CDKZ - Overview: CDKN1C Gene, Full Gene Analysis, Varies

Confirming a clinical diagnosis of Beckwith-Wiedemann syndrome following a normal result on methylation analysis Confirming a clinical diagnosis of IMAGe (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia...

NHEP - Overview: Hereditary Erythrocytosis Gene Panel, Next-Generation Sequencing, Varies

Evaluating an individual with JAK2-V617F negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit Providing an extensive genetic evaluation for patients...

LPA3P - Overview: Lymphocyte Proliferation to Anti-CD3/Anti-CD28 and Anti-CD3/Interleukin-2 (IL-2), Flow Cytometry, Blood

A second-level test after lymphocyte proliferation to mitogens (specifically phytohemagglutinin) has been assessed Evaluating patients suspected of having impairment in cellular immunity Evaluation of T-cell function in patients with...

GNBLF - Overview: Bleeding Disorders, Focused Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary bleeding in patients with a personal or family history suggestive of a hereditary bleeding disorder and initial laboratory testing results are suggestive for factors VII, VIII, IX, or XI deficiency, or a von Willebrand...

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...

GNVWD - Overview: von Willebrand Disease, VWF and GP1BA Genes, Next-Generation Sequencing, Varies

Evaluating von Willebrand disease and platelet-type von Willebrand disease in patients with a personal or family history suggestive of von Willebrand disease Confirming von Willebrand disease or platelet-type von Willebrand disease...

LDALD - Overview: Lysosomal and Peroxisomal Disorders Newborn Screen, Blood Spot

First-tier newborn screen for the lysosomal disorders: Fabry, Gaucher, Krabbe, mucopolysaccharidosis I (MPS I) and II (MPS II), infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency, and Pompe (glycogen storage...

GNBLC - Overview: Bleeding Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary bleeding in patients with a personal or family history suggestive of a hereditary bleeding disorder Confirming a hereditary bleeding disorder diagnosis with the identification of a known or suspected disease-causing...

AUTOG - Overview: Autoinflammatory Disorders Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited autoinflammatory disorder Establishing a diagnosis of a monogenic autoinflammatory disorder, allowing for appropriate...

HAEV1 - Overview: Hemolytic Anemia Evaluation, Blood

Evaluation of lifelong or inherited hemolytic anemias, including red blood cell membrane disorders, unstable or abnormal hemoglobin variants, and red blood cell enzyme disorders This evaluation is not suitable for acquired causes of...