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

ACARP - Overview: Acanthamoeba species Molecular Detection, PCR, Ocular

Aids in the diagnosis of amebic keratitis in conjunction with clinical findings

ARSAB - Overview: Arylsulfatase A, Blood Spot

Second-tier newborn screening test for metachromatic leukodystrophy (MLD) when sulfatides are elevated Enzymatic test for detection of arylsulfatase A deficiency This test is not suitable for carrier detection.

F8INV - Overview: Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Whole Blood

First-tier molecular testing for male patients affected with severe hemophilia A when a variant has not been identified in the family Determining hemophilia A carrier status for at-risk female patients, ie, individuals with a family...

INHAB - Overview: Inhibin A and B, Tumor Marker, Serum

Aiding in the diagnosis of granulosa cell tumors and mucinous epithelial ovarian tumors Monitoring of patients with granulosa cell tumors and epithelial mucinous-type tumors of the ovary known to secrete inhibin A or overexpress inhibin B

F822B - Overview: Hemophilia A F8 Gene, Intron 22 Inversion Known Mutation, Whole Blood

First-tier molecular testing for male patients affected with severe hemophilia A, when a familial intron 22 inversion has been previously identified Determining hemophilia A carrier status for at-risk female patients, ie, individuals with...

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...

CRDPU - Overview: Creatine Disorders Panel, Random, Urine

Evaluating patients with a clinical suspicion of arginine:glycine amidinotransferase deficiency, guanidinoacetate methyltransferase deficiency, and creatine transporter deficiency

HBAGQ - Overview: Hepatitis B Virus Surface Antigen, Quantitative, Serum

Monitoring of progression of chronic hepatitis B in individuals who are confirmed to be positive for hepatitis B surface antigen Monitoring of response to antiviral therapy in individuals who have chronic hepatitis B but are negative for...

PMS2 - Overview: PMS2 Immunostain, Technical Component Only

Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including PMS2 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...

RBCS - Overview: Relative B-Cell Subset Analysis Percentage, Blood

Screening for humoral or combined immunodeficiencies, including common variable immunodeficiency, hyper IgM syndrome, among others, where B-cell subset distribution information is desired Assessing B-cell subset reconstitution after...

C9ORF - Overview: C9orf72 Hexanucleotide Repeat, Molecular Analysis, Varies

Molecular confirmation of clinically suspected cases of c9FTD/ALS, frontotemporal dementia (FTD), or amyotrophic lateral sclerosis (ALS) Presymptomatic testing for individuals with a family history of c9FTD/ALS and a documented expansion...

MYODT - Overview: MYOD1 Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the MYOD1 gene to assist in tumor diagnosis/classification Assisting in the clinical management of patients with spindle cell and sclerosing rhabdomyosarcoma

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...

MCMRU - Overview: Mast Cell Mediators, Random, Urine

Evaluating patients at risk for mast cell activation syndrome (eg, systemic mastocytosis) using random urine collections

PBC2 - Overview: SP100 and GP210 Antibodies, IgG, Serum

Evaluating the risk of primary biliary cholangitis in anti-mitochondrial antibody (AMA)-negative patients by identification of Sp100 and gp210 antibodies Estimating risk in AMA-positive patients with incomplete feature of disease

BPGMM - Overview: 2,3-Bisphosphoglycerate Mutase, Full Gene Sequencing Analysis, Varies

Diagnosing 2,3-bisphosphoglycerate mutase deficiency in individuals with lifelong, unexplained erythrocytosis Identifying genetic variant carriers in family members of an affected individual for the purposes of preconception genetic...

BLWX - Overview: Walnut-Food Components, IgE, Serum

Evaluation of patients with suspected walnut-food allergy to one of 2 walnut-food components

MCGST - Overview: MayoComplete Gastrointestinal Stromal Tumor (GIST) Panel, Next-Generation Sequencing, Tumor

Establishing diagnosis and identifying targeted therapies for patients with gastrointestinal stromal tumors Assessing microsatellite instability

MCFRC - Overview: MayoComplete Renal Cell Carcinoma with Fibromyomatous Stroma Panel, Next-Generation Sequencing, Tumor

Identifying specific mutations within the ELOC (TCEB1), TSC1, TSC2, and VHL genes to assist in tumor diagnosis/classification Assisting in the clinical management of patients with renal cell carcinoma

DICET - Overview: DICER1 Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the DICER1 gene to assist in tumor diagnosis/classification

GALMP - Overview: Galactosemia, GALT Gene, Variant Panel, Varies

Second-tier test for confirming a diagnosis of galactosemia as indicated by enzymatic testing or newborn screening Carrier testing family members of an affected individual of known genotype (has variants included in the panel) Resolution...

MESOF - Overview: Mesothelioma, CDKN2A FISH, Tissue

Supporting the diagnosis of mesothelioma when used in conjunction with an anatomic pathology consultation

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...

GIP - Overview: Gastrointestinal Pathogen Panel, PCR, Feces

Rapid detection of gastrointestinal infections caused by: -Campylobacter species (Campylobacter jejuni/Campylobacter coli/Campylobacter upsaliensis) -Clostridioides difficile toxin A/B -Plesiomonas shigelloides -Salmonella species -Vibrio...

MMAGP - Overview: Methylmalonic Aciduria Gene Panel, Varies

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

CAORG - Overview: Comprehensive Marfan, Loeys-Dietz, Ehlers-Danlos, and Aortopathy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary aortic disease Establishing a diagnosis for a variety of hereditary conditions involving aortic disease or overlapping clinical...

GNADM - Overview: Hereditary Thrombotic Thrombocytopenic Purpura, ADAMTS13 Gene, Next-Generation Sequencing, Varies

Evaluating hereditary thrombotic thrombocytopenic purpura (TTP) in patients with a personal or family history suggestive of thrombotic microangiopathy Confirming a hereditary TTP diagnosis with the identification of known or suspected...

OIBFG - Overview: Osteogenesis Imperfecta and Bone Fragility Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive osteogenesis imperfecta and other hereditary conditions associated with bone fragility

TTBS - Overview: Testosterone, Total and Bioavailable, Serum

Recommended second-level test for suspected increases or decreases in physiologically active testosterone: -Assessment of androgen status in cases with suspected or known sex hormone-binding globulin binding abnormalities -Assessment of...

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...

THEV1 - Overview: Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum

Evaluation of microcytosis Extensive and economical diagnosis and classification of hemoglobinopathies or thalassemia, including complex disorders Diagnosis of hereditary persistence of hemoglobin

GNTHR - Overview: Thrombosis Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary thrombosis in patients with a personal or family history suggestive of a hereditary thrombosis disorder Confirming a hereditary thrombosis disorder diagnosis with the identification of a known or suspected pathogenic...

TLBLF - Overview: T-Lymphoblastic Leukemia/Lymphoma, FISH, Tissue

Detecting recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) using client specified probes Identifying and tracking known chromosome abnormalities in patients with T-ALL and...

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...

ALP - Overview: Alkaline Phosphatase, Serum

Diagnosing and monitoring treatment of liver, bone, intestinal, and parathyroid diseases

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.

BOB1 - Overview: BOB-1 Immunostain, Technical Component Only

Classification of lymphomas

AC1Q - Overview: Anti-C1q Antibodies, IgG, Serum

Evaluating patients with suspected anti-C1q vasculitis Predicting renal involvement in patients with systemic lupus erythematosus Detection of anti-C1q antibodies in serum

APLAV - Overview: Aldosterone, Left Adrenal Vein, Plasma

Investigation using left adrenal vein plasma specimen for: -Primary aldosteronism (eg, adrenal adenoma/carcinoma and adrenal cortical hyperplasia) -Secondary aldosteronism (renovascular disease, salt depletion, potassium loading, cardiac...

APRAV - Overview: Aldosterone, Right Adrenal Vein, Plasma

Investigation using right adrenal vein plasma specimen for: -Primary aldosteronism (eg, adrenal adenoma/carcinoma and adrenal cortical hyperplasia) -Secondary aldosteronism (renovascular disease, salt depletion, potassium loading, cardiac...

APIVC - Overview: Aldosterone, Inferior Vena Cava, Plasma

Investigation using inferior vena cava plasma specimen for: -Primary aldosteronism (eg, adrenal adenoma/carcinoma and adrenal cortical hyperplasia) -Secondary aldosteronism (renovascular disease, salt depletion, potassium loading, cardiac...

ASYN - Overview: Alpha-Synuclein Immunostain, Technical Component Only

Identification of alpha-synuclein in neurogenerative disorders

ALFP - Overview: Alpha-Fetoprotein (AFP) Immunostain, Technical Component Only

Aiding in the identification of yolk sac tumors and hepatocellular carcinoma

ALPRT - Overview: Alport (Collagen IV Alpha 5 and Alpha 2) Immunofluorescent Stain, Renal Biopsy

Assisting in the diagnosis of hereditary nephritis (Alport syndrome)

BFBL - Overview: Bilirubin, Body Fluid

Evaluating peritoneal fluid or abdominal drain fluid as a screening test for bile leakage May aid in the distinction between a transudative and an exudative pleural effusion

C3FX - Overview: C3 Complement, Functional, Serum

Diagnosis of C3 deficiency Investigation of a patient with undetectable total complement level

CRWB - Overview: Chromium, Blood

Monitoring exposure to chromium using whole blood specimens Monitoring metallic prosthetic implant wear

IGGS4 - Overview: IgG4, Immunoglobulin Subclasses, Serum

Supporting the diagnosis of IgG4-related disease

HNF1B - Overview: Hepatocyte Nuclear Factor 1Beta Immunostain, Technical Component Only

Diagnosis of ovarian clear cell carcinoma and endometrial clear cell carcinoma