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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...

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...

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...

PLSD - Overview: Lysosomal and Peroxisomal Disorders Screen, Blood Spot

Evaluation of patients with a clinical presentation suggestive of a lysosomal disorder, specifically Gaucher, infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency, Pompe, Krabbe, or Fabry disease, or...

BAKDM - Overview: BCR/ABL1, Tyrosine Kinase Inhibitor Resistance, Kinase Domain Mutation Screen, Sanger Sequencing, Varies

Evaluating patients with chronic myelogenous leukemia and Philadelphia chromosome positive B-cell acute lymphoblastic leukemia receiving tyrosine kinase inhibitor (TKI) therapy, who are apparently failing treatment Preferred initial test...

WBSEQ - Overview: Beta Globin Gene Sequencing, Varies

Diagnosis of beta thalassemia intermedia or major Identification of a specific beta thalassemia sequence variant (ie, unusually severe beta thalassemia trait) Evaluation of an abnormal hemoglobin electrophoresis identifying a rare...

APOEG - Overview: Apolipoprotein E Genotyping, Blood

Determining the specific apolipoprotein E (APOE) genotypes in individuals with type III hyperlipoproteinemia Determining the specific APOE genotypes that may increase risk for amyloid related imaging abnormalities in individuals being...

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

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

CD4RT - Overview: CD4 T-Cell Recent Thymic Emigrants, Blood

Evaluating thymic reconstitution in patients following hematopoietic cell transplantation, chemotherapy, immunomodulatory therapy, and immunosuppression Evaluating thymic recovery in patients who are HIV-positive and on highly active...

CTP10 - Overview: Catecholamine Fractionation, Standing, Plasma, Free

Diagnosis of pheochromocytoma and paraganglioma in specimens collected from individuals in a standing position, as an auxiliary test to fractionated plasma and urine metanephrine measurements Diagnosis and follow-up of patients with...

CTP0 - Overview: Catecholamine Fractionation, Supine, Plasma, Free

Diagnosis of pheochromocytoma and paraganglioma in specimens collected from individuals in a supine position, as an auxiliary test to fractionated plasma and urine metanephrine measurements Diagnosis and follow-up of patients with...

MPS2R - Overview: Endogenous Mucopolysaccharidosis Type II (I2S [Iduronate-2-Sulfatase]) Biomarker Reflex, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type II (MPS II, decreased iduronate-2-sulfatase) where quantitation of the glycosaminoglycans dermatan and heparan sulfate is desired in...

MPS1R - Overview: Endogenous Mucopolysaccharidosis Type I (IDUA [Alpha-L-Iduronidase]) Biomarker Reflex, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type I (MPS I, decreased alpha-L-iduronidase activity) where quantitation of the glycosaminoglycans dermatan and heparan sulfate is desired...

TFH - Overview: FH Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the FH gene to assist in tumor diagnosis/classification, including renal cell carcinoma, uterine/cutaneous leiomyoma, and pheochromocytoma/paraganglioma

HISGT - Overview: Histone Genes Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the H3-3A, H3-3B, H3C2, H3C3 and H3C14 genes that assist in tumor diagnosis/classification

IDTRT - Overview: IDH1, IDH2, and TERT Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the IDH1 and IDH2 genes and the TERT promoter to assist in tumor diagnosis/classification

MCOCP - Overview: MayoComplete Ovarian, Fallopian Tube, and Peritoneal Cancer Panel, Next-Generation Sequencing, Tumor

Primarily for determining if patients will respond to targeted therapy Assessment of microsatellite instability for immunotherapy decisions

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

MCECP - Overview: MayoComplete Endometrial Carcinoma Panel, Next-Generation Sequencing, Tumor

Primarily for determining if patients will respond to targeted therapy Assessment of microsatellite instability for immunotherapy decisions Molecular-based classification of endometrial carcinoma

H2GE - Overview: HER2 Amplification Associated with Gastroesophageal Cancer, FISH, Tissue

A predictive marker for patients with both node-positive or node-negative primary and metastatic gastroesophageal cancer Guiding therapy for patients with primary or metastatic gastroesophageal tumors, as patients with HER2 amplification...

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

MDM2F - Overview: MDM2 (12q15) Amplification, Well-Differentiated Liposarcoma/Atypical Lipomatous Tumor, FISH, Tissue

Identifying MDM2 amplification Supporting the diagnosis of many neoplasms, including, but not limited to, well-differentiated liposarcoma, atypical lipomatous tumor, dedifferentiated liposarcoma, parosteal osteosarcoma and central...

MPS4B - Overview: Mucopolysaccharidosis IV Enzyme Panel, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidosis type IVA and IVB This test is not useful for carrier detection.

17PRN - Overview: Pregnenolone and 17-Hydroxypregnenolone, Serum

An ancillary test for congenital adrenal hyperplasia (CAH), particularly in situations in which a diagnosis of both 21- and 11-hydroxylase deficiency have been ruled out Confirming a diagnosis of 3-beta-hydroxysteroid dehydrogenase...

HTG2 - Overview: Thyroglobulin, Tumor Marker, Serum

Follow-up of patients with differentiated thyroid cancers after thyroidectomy and radioactive iodine ablation

RAVMP - Overview: Ravulizumab Monitoring Panel, Serum

Monitoring of complement blockage by ravulizumab Assessing the response to ravulizumab therapy Assessing the need for dose escalation Evaluating the potential for dose deescalation or discontinuation of therapy in remission...

RPRS - Overview: Rapid Plasma Reagin Screen with Reflex, Serum

Aiding in the diagnosis of recent or past Treponema pallidum infection Rapid plasma reagin screening when T pallidum antibody screen is positive This test is not useful as a screening or confirmatory test for blood donor specimens.

SDHMP - Overview: SDH Genes Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the SDHA, SDHB, SDHC, and SDHD genes to assist in tumor diagnosis/classification, including pheochromocytoma/paraganglioma, renal cell carcinoma, and pituitary adenoma

STER - Overview: Sterols, Plasma

Investigation of possible desmosterolosis (desmosterol reductase deficiency), cerebrotendinous xanthomatosis, lathosterolosis, sitosterolemia, sterol C4 methyl oxidase deficiency, MEND (male EBP disorder with neurologic defects) syndrome,...

RAPAN - Overview: Rheumatoid Arthritis Panel, Serum

Evaluating patients suspected of having rheumatoid arthritis (RA) Differentiating RA from other inflammatory arthritis or connective tissue diseases Diagnosis and stratification of rheumatoid arthritis

RPCWT - Overview: Renal Pathology Consultation, Wet Tissue

Evaluating and managing patients with kidney disease Following the progression of known kidney disease or response to therapy Determining the cause of dysfunction in the transplanted kidney (allograft)

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The “Reject Due To” information contained in our online test catalog is being updated to provide greater clarity around rejection standards....

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To help you learn more about Lyme disease, “The ABCs of Lyme Disease” flash cards include information about symptoms, treatment, and other important facts....