EDMDP - Overview: Inherited Emery-Dreifuss Gene Panel, Varies

Establishing a molecular diagnosis for patients with Emery-Dreifuss muscular dystrophy Identifying variants within genes known to be associated with Emery-Dreifuss muscular dystrophy, allowing for predictive testing of at-risk family...

SMCP - Overview: Inherited Skeletal Muscle Channelopathy Gene Panel, Varies

Establishing a molecular diagnosis for patients with a skeletal muscle channelopathy Identifying variants within genes known to be associated with a skeletal muscle channelopathy allowing for predictive testing of at-risk family members

WILMP - Overview: Hereditary Wilms Tumor Panel, Varies

Evaluating isolated and syndromic causes of Wilms tumor Establishing a diagnosis to guide management for individuals with Wilms tumor Identifying a familial variant allowing for predictive testing and appropriate screening of at-risk...

CDHZ - Overview: Hereditary Diffuse Gastric Cancer Syndrome, CDH1, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of hereditary diffuse gastric cancer (HDGC) syndrome Establishing a diagnosis of HDGC syndrome allowing for targeted cancer surveillance based on associated risks...

MP8BS - Overview: Mucopolysaccharidoses, Eight-Enzyme Panel, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidoses types II, IIIA, IIIB, IIIC, IVA, IVB, VI, and VII, and of multiple sulfatase deficiency This test is not useful for carrier detection.

STK1Z - Overview: Peutz-Jeghers Syndrome, STK11, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of Peutz-Jeghers syndrome (PJS) Establishing a diagnosis of PJS allowing for targeted cancer surveillance based on associated risks Identifying variants within genes known...

PTNZ - Overview: PTEN Hamartoma Tumor Syndrome, PTEN Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of PTEN hamartoma tumor syndrome (PHTS) Establishing a diagnosis of PHTS allowing for targeted cancer surveillance based on associated risks Identifying variants within...

SEP9Z - Overview: SEPTIN9 Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis for patients with hereditary neuralgic amyotrophy Identifying variants within SEPTIN9 known to be associated with hereditary neuralgic amyotrophy, allowing for predictive testing of at-risk family members

SOD1Z - Overview: SOD1 Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis for patients with amyotrophic lateral sclerosis (ALS) Identifying variants within SOD1 known to be associated with ALS, allowing for predictive testing of at-risk family members

NMS1 - Overview: Necrotizing Myopathy Evaluation, Serum

Evaluating patients with suspected necrotizing autoimmune myopathy

PATHC - Overview: Pathology Consultation

A subspecialty second opinion for a specific pathology question referred by a primary pathologist Note: A consultative opinion is not a full rendering of a primary diagnostic report (eg, multiple parts, margin status, CAP...

MPO - Overview: Myeloperoxidase Antibodies, IgG, Serum

Evaluating patients with clinical features anti-neutrophil cytoplasmic antibody associated vasculitis, specifically granulomatosis with polyangiitis, microscopic polyangiitis (MPA), and eosinophilic granulomatosis with polyangiitis...

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FPGT - Overview: Phenosense Combination HIV Drug Resistance Assay

Determines viral phenotype and genotype resistance to three classes of commonly prescribed antiretroviral drugs: nucleoside reverse transcriptase inhibitors (NRTI), nonnucleoside reverse transcriptase inhibitors (NNRTI), and protease...

SCN5A - Overview: Brugada Syndrome, SCN5A Full Gene Analysis, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Brugada syndrome Establishing a diagnosis of Brugada syndrome

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

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...

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...

NF1Z - Overview: Neurofibromatosis Type 1, NF1, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of neurofibromatosis type 1 (NF1) Establishing a diagnosis of a NF1 allowing for targeted cancer surveillance based on associated risks Identifying genetic variants...

PANGP - Overview: Expanded Pancreatitis Gene Panel, Varies

Confirmation of suspected clinical diagnosis of familial or hereditary pancreatitis in patients with chronic pancreatitis Identification of gene variants contributing to pancreatitis in an individual or family Identification of gene...

FCZAC - Overview: Certolizumab and Anti-Certolizumab Antibody, DoseASSURE CTZ

Provides certolizumab drug concentration and anti-certolizumab antibodies in order to optimize treatment and facilitate clinical decision-making. This assay may be helpful in any patient on certolizumab therapy for Crohn's disease,...

PR3 - Overview: Proteinase 3 Antibodies, IgG, Serum

Evaluating patients with clinical features of anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis, specifically granulomatosis with polyangiitis (GPA), microscopic polyangiitis, and eosinophilic granulomatosis with...

TOXGP - Overview: Toxoplasma gondii Antibody, IgG, Serum

Determining whether a patient has had previous exposure to or recent infection with Toxoplasma gondii This test is not useful for diagnosing infection in infants younger than 6 months of age. In that age group, IgG antibodies usually are...

HBOCZ - Overview: BRCA1/BRCA2 Genes, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of hereditary breast and ovarian cancer (HBOC) syndrome Establishing a diagnosis of HBOC syndrome allowing for targeted cancer surveillance based on associated risks...

MDYSP - Overview: Inherited Muscular Dystrophy Gene Panel, Varies

Establishing a molecular diagnosis for patients with muscular dystrophy Identifying variants within genes known to be associated with muscular dystrophy, allowing for predictive testing of at-risk family members

PARDP - Overview: Inherited Parkinson Disease Gene Panel, Varies

Establishing a molecular diagnosis for patients with Parkinson disease Identifying variants within genes known to be associated with Parkinson disease, allowing for predictive testing of at-risk family members

ISNP - Overview: Inherited Sensory Neuropathy Gene Panel, Varies

Establishing a molecular diagnosis for patients with hereditary sensory (HSN) and autonomic neuropathy (HSAN) Identifying variants within genes known to be associated with HSN and HSAN, allowing for predictive testing of at-risk family...

HPCUT - Overview: Hematopathology Consultation, Client Embed

Obtaining a rapid, expert opinion for diagnosis of hematologic and nonhematologic diseases using bone marrow biopsy specimens referred by the primary pathologist Obtaining special studies that are not available locally

LYNCP - Overview: Lynch Syndrome Panel, Varies

Establishing a diagnosis of Lynch syndrome or constitutional mismatch repair deficiency allowing for targeted cancer surveillance based on associated risks Identifying MLH1, MSH2, MSH6, PMS2, or EPCAM variants to allow for predictive...

BRGYP - Overview: Hereditary Breast/Gynecologic Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary breast or gynecological cancer syndrome Establishing a diagnosis of a hereditary breast or gynecological cancer syndrome allowing for targeted cancer...

MNDP - Overview: Inherited Motor Neuron Disease Gene Panel, Varies

Establishing a molecular diagnosis for patients with motor neuron disease Identifying variants within genes known to be associated with motor neuron disease, allowing for predictive testing of at-risk family members

PRS8P - Overview: Hereditary Prostate Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary prostate cancer syndrome Establishing a diagnosis of a hereditary prostate cancer syndrome allowing for targeted cancer surveillance based on associated...

RENCP - Overview: Hereditary Renal Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary renal cancer syndrome Establishing a diagnosis of a hereditary renal cancer syndrome allowing for targeted cancer surveillance based on associated risks...

PANCP - Overview: Hereditary Pancreatic Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary pancreatic cancer syndrome Establishing a diagnosis of a hereditary pancreatic cancer syndrome, allowing for targeted cancer surveillance based on associated...

IMNP - Overview: Inherited Motor Neuropathy Gene Panel, Varies

Establishing a molecular diagnosis for patients with distal hereditary motor neuropathy (dHMN) Identifying variants within genes known to be associated with dHMN, allowing for predictive testing of at-risk family members

THYRP - Overview: Hereditary Thyroid Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary thyroid cancer syndrome Establishing a diagnosis of a hereditary thyroid cancer syndrome, allowing for targeted surveillance based on associated...

RETZZ - Overview: Multiple Endocrine Neoplasia Type 2 Syndrome, RET, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of a multiple endocrine neoplasia type 2 (MEN2) or Hirschsprung disease (HSCR) Establishing a diagnosis of MEN2 or HSCR allowing for targeted cancer surveillance based on...

NCYB - Overview: Recessive Congenital Methemoglobinemia, CYB5 and CYB5 Reductase Genetic Analysis, Next-Generation Sequencing, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of recessive congenital methemoglobinemia Genotype confirmation of borderline cytochrome b5 reductase (methemoglobin reductase: METR) enzyme activity...

LGCMP - Overview: Inherited Limb-Girdle Muscular Dystrophy and Congenital Myasthenic Syndrome Gene Panel, Varies

Establishing a molecular diagnosis for patients with limb-girdle muscular dystrophy or congenital myasthenic syndrome Identifying variants within genes known to be associated with limb-girdle muscular dystrophy or congenital myasthenic...

ISPP - Overview: Inherited Spastic Paraplegia Gene Panel, Varies

Establishing a molecular diagnosis for patients with hereditary spastic paraplegia Identifying variants within genes known to be associated with hereditary spastic paraplegia, allowing for predictive testing of at-risk family members

CMPRG - Overview: Family Member Comparator Specimen for Genome Sequencing, Varies

Submitting a biological family member's specimen to be used as a comparator for affected patients (probands) undergoing whole genome sequencing

HPWET - Overview: Hematopathology Consultation, MCL Embed

Obtaining a rapid, expert opinion for diagnosis of hematologic and non-hematologic diseases using unprocessed bone marrow biopsy specimens referred by the primary pathologist Obtaining special studies that are not available locally

VHLZZ - Overview: Von Hippel Lindau Syndrome, VHL, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of Von Hippel-Lindau (VHL) syndrome Establishing a diagnosis of a VHL allowing for targeted cancer surveillance based on associated risks Identifying genetic variants...

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

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,...

COMID - Overview: Combined Humoral and Cell-Mediated Immunodeficiency Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a hereditary combined humoral and cell-mediated immunodeficiency (CID) Establishing a diagnosis of a combined immunodeficiency...

BMFGP - Overview: Inherited Bone Marrow Failure Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a hereditary bone marrow failure syndrome Establishing a diagnosis of a hereditary bone marrow failure syndrome associated with known...

NSAI - Overview: Neurosyphilis IgG, Antibody Index, Spinal Fluid

Aid in the diagnosis of neuroinvasive syphilis as part of a profile

MLHPB - Overview: MLH1 Hypermethylation Analysis, Blood

As an adjunct to positive hypermethylation in tumor to distinguish between somatic and germline hypermethylation As an adjunct to negative MLH1 germline testing in cases where colon or endometrial tumor demonstrates microsatellite...

CATTR - Overview: Cold Agglutinin Titer, Serum

Detection of cold agglutinins in patients with suspected cold agglutinin disease This test is not recommended to diagnose Mycoplasma pneumoniae infections.