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...

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...

AFTDP - Overview: Inherited Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Gene Panel, Varies

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...

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...

NSRGG - Overview: Noonan Syndrome and Related Conditions Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome with loose anagen hair, cardiofaciocutaneous syndrome, Costello syndrome,...

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...

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...

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...

BCELL - Overview: B-Cell and Antibody Deficiency Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited primary B-cell disorder or humoral immunodeficiency Establishing a diagnosis of a primary B-cell disorder or humoral...

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...

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...

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...

COGBF - Overview: B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Children's Oncology Group Enrollment Testing, FISH, Varies

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...

GNFIB - Overview: Congenital Fibrinogen Disorders, FGA, FGB, and FGG Genes, Next-Generation Sequencing, Varies

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...

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...

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,...

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...

LRCCZ - Overview: Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome, FH, Full Gene Analysis, Varies

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...

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...

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...

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...