Test Catalog Search Results
PSYQP - Overview: Psychotropic Pharmacogenomics Gene Panel, Varies
Individualizing selection and dosage of medications prescribed for treatment of depression and other psychiatric disorders based on genetic variation Identifying genetic variation in genes known to be associated with response and/or risk...
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...
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
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
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,...
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
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...
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...
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...
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...
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...
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
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...
EPPAN - Overview: Comprehensive Epilepsy With or Without Encephalopathy Gene Panel, Varies
Establishing a diagnosis of an epilepsy or seizure disorder associated with known causal genes Identifying disease-causing variants within genes known to be associated with inherited epilepsy or seizure disorders, allowing for predictive...
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...
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...
HYPBG - Overview: Hypobetalipoproteinemia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of familial hypobetalipoproteinemia
NMITO - Overview: Nuclear Mitochondrial Gene Panel, Next-Generation Sequencing, Varies
Diagnosing the subset of mitochondrial disease that results from variants in the nuclear-encoded genes A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...
PRKSG - Overview: PRKAR1A Full Gene Sequencing with Deletion/Duplication, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Carney Complex (CNC) or acrodysostosis-1 with hormone resistance Establishing a diagnosis of CNC or acrodysostosis-1 with hormone resistance
GNSPD - Overview: Platelet Storage Pool Deficiency Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary platelet storage pool deficiencies in patients with a personal or family history suggestive of a hereditary platelet storage pool deficiency Diagnosing hereditary platelet storage pool deficiencies for patients in...
GNPFD - Overview: Platelet Function Defect Gene Panel, Next-Generation Sequencing, Varies
Diagnosing hereditary platelet function defect disorders for patients who have a distinct platelet function defect pattern, such as Bernard-Soulier syndrome, revealed by laboratory phenotypic testing Confirming a hereditary platelet...
TALMF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Specified FISH, Varies
Detecting recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) using client-specified probes An adjunct to conventional chromosome studies in patients with T-ALL Evaluating...
TALAF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Adult, Varies
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) in adult patients As an adjunct to conventional chromosome studies in patients with T-ALL Evaluating...
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...
BALAF - Overview: B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Adult, Varies
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) and Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) in adult patients As...
Evaluation of pediatric bone marrow and peripheral blood specimens by fluorescence in situ hybridization probe analysis for classic rearrangements and chromosomal copy number changes associated with B-cell acute lymphoblastic...
Evaluating congenital fibrinogen disorders (CFD) in patients with a personal or family history suggestive of a fibrinogen disorder Confirming a CFD diagnosis with the identification of known or suspected disease-causing alterations in the...
NEPHP - Overview: Comprehensive Nephrology Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary kidney disease Establishing a diagnosis for a variety of hereditary kidney conditions including focal segmental glomerulosclerosis,...
CMITO - Overview: Combined Mitochondrial Full Genome and Nuclear Gene Panel, Varies
Diagnosing mitochondrial disease that results from variants in either nuclear-encoded genes or the mitochondrial genome A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial...
GNHMA - Overview: Hemophilia A, F8 Gene, Next-Generation Sequencing, Varies
Confirming a clinical diagnosis of hemophilia A in affected male patients with the identification of a disease-causing variant in the F8 gene Determining the disease-causing alteration within the F8 gene to delineate the underlying...
GNHTC - Overview: Hereditary Thrombocytopenia Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary thrombocytopenia disorders in patients with a personal or family history suggestive of a hereditary thrombocytopenia disorder Diagnosing hereditary thrombocytopenia disorders for patients in whom phenotypic testing is...
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...
GNMTC - Overview: Macro/Microthrombocytopenia Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary macro- or microthrombocytopenia disorders in patients with a personal or family history suggestive of a hereditary macro- or microthrombocytopenia disorder Diagnosing hereditary macro- or microthrombocytopenia...
Evaluating patients with a personal or family history suggestive of hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome or fumarate hydratase deficiency (FHD) Establishing a diagnosis of HLRCC or FHD allowing for targeted...
TALPF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Pediatric, Varies
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) in pediatric/young adult patients As an adjunct to conventional chromosome studies in pediatric/young...
HCHLG - Overview: Hypercholesterolemia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of familial hypercholesterolemia (FH), sitosterolemia, or other monogenic forms of inherited hypercholesterolemia Establishing a diagnosis of FH,...
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of Epstein-Barr virus (EBV) susceptibility or a heritable predisposition to lymphoproliferative disease Establishing a diagnosis of a...
SCIDP - Overview: Severe Combined Immunodeficiency (SCID) Gene Panel, Varies
Establishing a diagnosis of a severe combined immunodeficiency (SCID) associated with known causal genes Identifying variants within genes known to be associated with SCID, allowing for predictive testing of at-risk family members and/or...
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...
AMLAF - Overview: Acute Myeloid Leukemia (AML), FISH, Adult, Varies
This test should not be used to screen for residual acute myeloid leukemia (AML). Useful at diagnosis for detecting recurrent common chromosome abnormalities in adult patients with AML An adjunct to chromosome studies in patients with...
AMLPF - Overview: Acute Myeloid Leukemia (AML), FISH, Pediatric, Varies
This test should not be used to screen for residual acute myeloid leukemia (AML). Useful at diagnosis for detecting recurrent common chromosome abnormalities in pediatric patients with AML An adjunct to chromosome studies in patients with...
BLBLF - Overview: B-Cell Lymphoblastic Leukemia/Lymphoma, FISH, Tissue
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) and Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) in paraffin-embedded...
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...
FMTT - Overview: Familial Variant, Targeted Testing, Varies
Diagnostic or predictive testing for specific conditions when a DNA variant of interest has been previously identified in a family member and follow-up testing for this specific variant in other family members is desired Carrier screening...
BALMF - Overview: B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Specified FISH, Varies
Detecting a neoplastic clone associated with recurrent common chromosome abnormalities associated with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) and Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL)...
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...
GNPLT - Overview: Platelet Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary platelet disorders in patients with a personal or family history suggestive of a hereditary platelet disorder Diagnosing hereditary platelet disorders for patients in whom phenotypic testing is nondiagnostic, but...
HLHGP - Overview: Primary Hemophagocytic Lymphohistiocytosis Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial hemophagocytic lymphohistiocytosis (F-HLH) Establishing a diagnosis of F-HLH, allowing for appropriate management and...
IPFGP - Overview: Idiopathic Pulmonary Fibrosis Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial idiopathic pulmonary fibrosis Establishing a diagnosis of familial idiopathic pulmonary fibrosis associated with known...