Test Catalog Search Results
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...
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...
CDSP - Overview: Celiac Disease Serology Cascade, Serum
Evaluating patients suspected of having celiac disease, including patients with compatible symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous diagnosis with associated disease, positivity...
CDGF - Overview: Celiac Disease Gluten-Free Cascade, Serum and Whole Blood
Evaluating patients suspected of having celiac disease who are currently (or were recently) on a gluten-free diet
MUPAN - Overview: Comprehensive Neuromuscular Gene Panel, Varies
Establishing a molecular diagnosis for patients with a neuromuscular disorder Identifying variants within genes known to be associated with neuromuscular disorders allowing for predictive testing of at-risk family members
Screening for infection with high-risk human papillomavirus (HPV) associated with the development of cervical cancer Individual genotyping of HPV-16 and/or HPV-18 if present This testing is intended for use in clinical monitoring and...
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...
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...
GNANG - Overview: Hereditary Angioedema Focused Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary angioedema (HAE) with normal C1 inhibitor (C1INH) in patients with a suggestive personal or family history Confirming a diagnosis of HAE with normal C1INH with the identification of a known or suspected...
NSFIB - Overview: Nonalcoholic Steatohepatitis (NASH)-FibroTest, Serum and Plasma
Diagnosis and the follow-up of liver fibrosis, steatosis, and inflammation Estimating hepatic fibrosis Assessing inflammation for metabolic diseases Assessing severity of nonalcoholic steatohepatitis (NASH) in patients with...
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
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...
PCDGG - Overview: Primary Ciliary Dyskinesia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of primary ciliary dyskinesia Establishing a diagnosis of primary ciliary dyskinesia
QUAD1 - Overview: Quad Screen (Second Trimester) Maternal, Serum
Prenatal screening for open neural tube defect (alpha-fetoprotein only), trisomy 21 (alpha-fetoprotein, human chorionic gonadotropin, estriol, and inhibin A) and trisomy 18 (alpha-fetoprotein, human chorionic gonadotropin, and estriol)
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...
DMNES - Overview: Peripheral Nervous System Demyelinating Neuropathy, Autoimmune Evaluation, Serum
Evaluating patients with a suspected immune-mediated demyelinating peripheral neuropathy
CDGGP - Overview: Congenital Disorders of Glycosylation Gene Panel, Varies
Establishing a molecular diagnosis for patients with congenital disorders of glycosylation Identifying variants within genes known to be associated with congenital disorders of glycosylation, allowing for predictive testing of at-risk...
CGPH - Overview: Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies
Customization of existing next-generation sequencing panels offered through Mayo Clinic Laboratories Detection single nucleotide and copy number variants in a custom gene panel Identification of a pathogenic variant may assist with...
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
EEST - Overview: Estradiol, Serum
All applications that require moderately sensitive measurement of estradiol: -Evaluation of hypogonadism and oligo-amenorrhea in females -Assessing ovarian status, including follicle development, for assisted reproduction protocols (eg, in...
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...
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...
LLTOF - Overview: Leukemia and Lymphoma Phenotyping, Technical Only, Varies
Evaluating lymphocytoses of undetermined etiology Identifying B- and T-cell lymphoproliferative disorders involving blood and bone marrow Distinguishing acute lymphoblastic leukemia from acute myeloid leukemia (AML) Immunologic...
LUCHM - Overview: LiquidHALLMARK ctDNA and ctRNA
As an alternative to invasive tissue biopsies to assist in tumor profiling for diagnosis, predicting prognosis, and identifying targeted therapies for the treatment and management of patients with a solid tumor This test is not useful for...
GNMY9 - Overview: MYH9-Related Disorders, MYH9 Gene, Next-Generation Sequencing, Varies
Evaluating MYH9-related disorders, including May-Hegglin disorder/anomaly and Sebastian syndrome, in patients with a personal or family history suggestive of an MYH9-related disorder Diagnosing MYH9-related disorders, including May-Hegglin...
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)
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...
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...
DTPCO - Overview: ThinPrep with Human Papillomavirus (HPV) Co-Test-Diagnostic, Varies
Detection and diagnosis of cervical carcinoma or intraepithelial lesions and the presence or absence of high-risk human papillomavirus (HR-HPV) in women over age 30 at risk for cervical neoplasia Detecting high-risk HPV genotypes...
STHPV - Overview: ThinPrep Screen with Human Papillomavirus (HPV) Reflex, Varies
Managing and triaging of patients, aged 21 years or older, with abnormal Pap results Screening for detection of high-risk (HR) human papillomavirus (HPV) genotypes associated with the development of cervical cancer Aids in triaging...
DTHPV - Overview: ThinPrep Diagnostic with Human Papillomavirus (HPV) Reflex, Varies
Management and triage of patients aged 21 years or older with abnormal Papanicolaou (Pap) results Diagnostic test for detection of human papillomavirus (HPV) high-risk genotypes associated with the development of cervical cancer Results...
TTRZ - Overview: TTR Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with amyloidosis Identifying variants within TTR known to be associated with amyloidosis, allowing for predictive testing of at-risk family members
SUP24 - Overview: Supersaturation Profile, 24 Hour, Urine
Diagnosis and management of patients with renal lithiasis: -Predicting the likely composition of the stone, in patients who have a radiopaque stone, for whom stone analysis is not available -May aid in designing a treatment program...
TELDP - Overview: Telomere Biology Disorders Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a telomere biology disorder Establishing a diagnosis of a telomere biology disorder, allowing for appropriate management and...
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...
SSH24 - Overview: Supersaturation Profile, Self-Collect, 24 Hour, Urine
Diagnosis and management of patients with renal lithiasis: -Predicting the likely composition of the stone, in patients who have a radiopaque stone, for whom stone analysis is not available -May aid in designing a treatment program Aiding...
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...
SCCNP - Overview: Severe Congenital and Cyclic Neutropenia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of severe congenital neutropenia and/or cyclic neutropenia Establishing a diagnosis of an inherited congenital neutropenia and, in some cases,...
DWPAN - Overview: Comprehensive Distal Weakness Gene Panel, Varies
Establishing a molecular diagnosis for patients with distal weakness Identifying variants within genes known to be associated with distal weakness, allowing for predictive testing of at-risk family members
CHLGP - Overview: Cholestasis Gene Panel, Varies
Establishing a molecular diagnosis for patients with monogenic cholestasis Identifying variants within genes known to be associated with primary, monogenic cholestasis, allowing for predictive testing of at-risk family members This panel...
ENDCP - Overview: Hereditary Endocrine Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary endocrine tumor syndrome Establishing a diagnosis of a hereditary endocrine tumor syndrome, allowing for targeted surveillance based on associated risks...
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inborn error of immunity (IEI) associated with immune dysregulation or autoimmunity Establishing a diagnosis of an IEI, allowing...
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...
Establishing a molecular diagnosis for patients with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) Identifying variants within genes known to be associated with FTD and/or ALS, allowing for predictive testing of...
HPANP - Overview: Hereditary Pancreatitis Gene Panel, Varies
Confirming a suspected clinical diagnosis of familial or hereditary pancreatitis in patients with chronic pancreatitis Identifying gene variants contributing to pancreatitis in an individual or family Identifying gene variants to allow...
PNEFS - Overview: Neuroimmunology Antibody Follow-up, Serum
Monitoring patients who have previously tested positive for one or more antibodies within the past 5 years in a Mayo Clinic Laboratories serum evaluation
GID2 - Overview: Gastrointestinal Dysmotility, Autoimmune/Paraneoplastic Evaluation, Serum
Investigating unexplained weight loss, early satiety, anorexia, nausea, vomiting, constipation, or diarrhea in a patient with a past or family history of cancer or autoimmunity Directing a focused search for cancer Investigating...
DYS2 - Overview: Dysautonomia, Autoimmune/Paraneoplastic Evaluation, Serum
Investigating idiopathic dysautonomic symptoms Directing a focused search for cancer in patients with idiopathic dysautonomia Investigating autonomic symptoms that appear in the course or wake of cancer therapy and are not explainable by...
PAC1 - Overview: Paraneoplastic, Autoantibody Evaluation, Spinal Fluid
Aiding in the diagnosis of paraneoplastic neurological autoimmune disorders related to carcinoma of lung, breast, ovary, thymoma, or Hodgkin lymphoma using spinal fluid specimens