LPCBS - Overview: Lysophosphatidylcholines, LC MS/MS, Blood Spot
Second-tier newborn screen for X-linked adrenoleukodystrophy This test is not intended for metabolic screening of symptomatic patients. This test is supplemental and not intended to replace state mandated newborn screening.
PSF - Overview: Protein S Antigen, Free, Plasma
As part of an investigation of patients with a history of thrombosis
SHBG1 - Overview: Sex Hormone-Binding Globulin, Serum
Diagnosis and follow-up of women with signs or symptoms of androgen excess (eg, polycystic ovarian syndrome and idiopathic hirsutism) An adjunct in monitoring sex-steroid and antiandrogen therapy An adjunct in the diagnosis of disorders...
FPALI - Overview: Paliperidone, Serum
Paliperidone, Serum
FAS1A - Overview: Anti-SAE1 Ab, IgG
Anti-SAE1 Ab, IgG
FACN1 - Overview: Anti-cN-1A (NT5c1A) IBM
Anti-cN-1A (NT5c1A) IBM
FFRFT - Overview: Anti-Synthetase Profile
Anti-Synthetase Profile
LDALD - Overview: Lysosomal and Peroxisomal Disorders Newborn Screen, Blood Spot
First-tier newborn screen for the lysosomal disorders: Fabry, Gaucher, Krabbe, mucopolysaccharidosis I (MPS I) and II (MPS II), infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency, and Pompe (glycogen storage...
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...
PSAFT - Overview: Prostate-Specific Antigen (PSA), Total and Free, Serum
As an aid in distinguishing prostate cancer from benign prostatic conditions in men aged 50 years and older with total PSA between 4.0 and 10.0 ng/mL with digital rectal examination findings that are not suspicious for cancer
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...
GCT - Overview: Galactosemia Reflex, Blood
Preferred test for diagnosis, carrier detection, and determination of genotype of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia Differentiating Duarte variant galactosemia from classic...
ESR1T - Overview: ESR1 Mutation Analysis, Next-Generation Sequencing, Tumor
Assisting in the clinical management of patients with metastatic breast cancer by identifying tumors with evolving resistance to endocrine therapy Stratifying prognosis of metastatic breast cancer
ALPGP - Overview: Alport Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Alport syndrome Establishing a diagnosis of Alport syndrome
BHDZ - Overview: Birt-Hogg-Dube Syndrome, FLCN, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of Birt-Hogg-Dube (BHD) syndrome Establishing a diagnosis of BHD syndrome allowing for targeted cancer surveillance based on associated risks Identifying variants within...
B2GMG - Overview: Beta-2 Glycoprotein 1 Antibodies, IgG and IgM, Serum
Evaluating patients with suspected antiphospholipid syndrome by identification of beta-2 glycoprotein 1 IgM and IgG antibodies First-line test when antiphospholipid syndrome is strongly suspected in conjunction with cardiolipin antibodies...
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
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
HAEV1 - Overview: Hemolytic Anemia Evaluation, Blood
Evaluation of lifelong or inherited hemolytic anemias, including red blood cell membrane disorders, unstable or abnormal hemoglobin variants, and red blood cell enzyme disorders This evaluation is not suitable for acquired causes of...
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...
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...
EOIBD - Overview: Early Onset Monogenic Inflammatory Bowel Disease (IBD) Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited inflammatory bowel disorder Establishing a diagnosis of a monogenic early onset inflammatory bowel disease, allowing for...
PSTF - Overview: Protein S Antigen, Plasma
Investigation of patients with a history of thrombosis
PMHLH - Overview: Postmortem Primary Hemophagocytic Lymphohistiocytosis (HLH) Gene Panel, Tissue
Providing a comprehensive postmortem genetic evaluation in the setting of a death attributed to primary hemophagocytic lymphohistiocytosis Identifying a disease-causing variant in the decedent, which may assist with risk assessment and...
PMARG - Overview: Postmortem Arrhythmia Gene Panel, Tissue
Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death suspicious for cardiac arrhythmia or with a personal or family history suggestive of a hereditary form of cardiac arrhythmia Identifying a...
PKLRZ - Overview: PKLR Full Gene Analysis, Varies
Aiding in the diagnosis of pyruvate kinase (PK) deficiency Ascertaining a causative variant in the PKLR gene of patients with low or relatively low levels of erythrocytic PK enzymatic activity Ascertaining carrier status of family members...
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...
DOCS - Overview: 11-Deoxycorticosterone, Serum
Diagnosis of suspected 11-hydroxylase deficiency, including the differential diagnosis of 11-beta-hydroxylase 1 (CYP11B1) versus 11-beta-hydroxylase 2 (CYP11B2) deficiency Diagnosis of glucocorticoid-responsive...
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...
AHUSD - Overview: Atypical Hemolytic Uremic Syndrome Complement Panel, Serum and Plasma
Detecting deficiencies in the alternative pathway that can cause atypical-hemolytic uremic syndrome, dense deposit disease, and C3 glomerulonephritis A second-tier test that aids in the differential diagnosis of thrombotic...
EDSGG - Overview: Ehlers-Danlos Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Ehlers-Danlos syndrome and related conditions Establishing a diagnosis for Ehlers-Danlos syndrome, X-linked occipital horn syndrome, X-linked...
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...
EEEV1 - Overview: Red Blood Cell (RBC) Enzyme Evaluation, Blood
Identifying defects of red blood cell enzyme metabolism Evaluating patients with Coombs-negative hemolytic anemia
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...
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...
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...
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...
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
FAPEP - Overview: Fatty Acid Profile, Essential, Serum
Evaluating the nutritional intake and intestinal absorption of essential fatty acids using serum specimens Identifying deficiency of essential and other nutritionally beneficial fatty acids Monitoring treatment of patients with essential...
ADPKP - Overview: Focused Autosomal Dominant Polycystic Kidney Disease Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of autosomal dominant polycystic kidney disease Establishing a diagnosis of autosomal dominant polycystic kidney disease
CMSP - Overview: Inherited Congenital Myasthenic Syndrome Gene Panel, Varies
Establishing a molecular diagnosis for patients with congenital myasthenic syndrome Identifying variants within genes known to be associated with congenital myasthenic syndrome, allowing for predictive testing of at-risk family members
LQTSG - Overview: Long QT Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of long QT syndrome (LQTS) Establishing a diagnosis of LQTS
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...
ARVGG - Overview: Arrhythmogenic Cardiomyopathy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of arrhythmogenic cardiomyopathy Establishing a diagnosis of a hereditary form of arrhythmogenic cardiomyopathy
RBART - Overview: Bartter Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Bartter syndrome Establishing a diagnosis of Bartter syndrome
BAP1Z - Overview: BAP1-Tumor Predisposition Syndrome, BAP1 Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of BAP1-tumor predisposition syndrome (BAP1-TPDS) Establishing a diagnosis of BAP1-TPDS allowing for targeted cancer surveillance based on associated risks Identifying...
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...
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...
SQTSG - Overview: Short QT Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of short QT syndrome Establishing a diagnosis of short QT syndrome
Mayo Clinic Staff Members Honored in ASCP's "40 under Forty" - Insights
Clinical Pathology (ASCP) has announced the 2017 “40 under Forty” honorees. Each year, the Selection Committee identifies 40 ASCP members under the age of 40 who are recognized for being future pathology and...
D., named to Business Insider's list of 30 under 40 working to transform health care - Insights
Since the pandemic hit, she's spent a great deal of time vetting antibody tests and has set up a COVID-19 testing program at Mayo Clinic.
Mayo Clinic Laboratory and Pathology Research Roundup: March 13 - Insights
evolution of giant cell arteritis with a prospective study of follow-up temporal artery biopsies in 40 treated patients....
High School Students Experience Laboratory Professional Careers - Insights
Last month in Rochester, the Mayo Clinic School of Health Sciences welcomed 40 Minnesota high school juniors and seniors to tour various areas of the Mayo Clinic campus as a part of this year’s Career...
Yuma Regional Medical Center: Changing perceptions and powering growth - Insights
leaders, resulting in a changed perception of the laboratory’s ability to drive profitability and a $40 million capital investment in laboratory infrastructure....