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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...

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...

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...

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...

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...

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...

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...

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,...

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...

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...

AHUGP - Overview: Atypical Hemolytic Uremic Syndrome (aHUS)/Thrombotic Microangiopathy (TMA) /Complement 3 Glomerulopathy (C3G) Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of atypical hemolytic uremic syndrome (aHUS), thrombotic microangiopathy (TMA), or complement 3 glomerulopathy (C3G) Establishing a diagnosis of...

PKC - Overview: Pyruvate Kinase Enzyme Activity, Blood

Evaluation of nonspherocytic hemolytic anemia as a part of a profile Evaluation of neonatal anemia or jaundice Evaluation of unexplained noninfectious hepatic failure Evaluation of unexplained iron overload Evaluation of unusually...

POU2F - Overview: POU2F3 Immunostain, Technical Component Only

Diagnosis of a variant of small cell lung carcinoma

PAS8 - Overview: Pediatric Allergy Screen >8 Years, Serum

Establishing a diagnosis of an allergy to pediatric allergy screen Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response and/or anaphylactic episode -To confirm...

PAS38 - Overview: Pediatric Allergy Screen 3 to 8 Years, Serum

ELASF - Overview: Pancreatic Elastase, Feces

Diagnosis of exocrine pancreatic insufficiency in case of unexplained diarrhea, constipation, steatorrhea, flatulence, weight loss, upper abdominal pain, and food intolerances Monitoring of exocrine pancreatic function in cystic fibrosis,...

P62 - Overview: p62 Immunostain, Technical Component Only

Aids in diagnosing argyrophilic grain disease

SP142 - Overview: Programmed Death-Ligand 1 (PD-L1) (SP142), Semi-Quantitative Immunohistochemistry, Manual

Identification of neoplasms expressing programmed cell death 1-ligand 1 (clone SP142)

22C3 - Overview: Programmed Death-Ligand 1 (PD-L1) (22C3), Semi-Quantitative Immunohistochemistry, Manual

Identification of neoplasms expressing programmed cell death 1-ligand 1 (clone 22C3)

TRPS1 - Overview: Trichorhinophalangeal syndrome type 1 (TRPS1) Immunostain, Technical Component Only

Identification of breast carcinoma including triple negative breast cancer

TDT - Overview: Terminal Deoxynucleotidyl Transferase (TdT) Immunostain, Technical Component Only

Classification of leukemias or lymphomas

TFE3I - Overview: Transcription Factor E3 (TFE3) Immunostain, Technical Component Only

Assessment of transcription factor E3 expression

TRAP - Overview: Tartrate-Resistant Acid Phosphatase (TRAP) Immunostain, Technical Component Only

Classification of leukemias and lymphomas