Physicians, scientists, genetic counselors, and allied health staff from Mayo Clinic and Mayo Medical Laboratories are currently attending the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting in Tampa, Florida.
- CARDIAC DISORDERS: 8 new NGS panels identify inherited variants across genes associated with cardiac disorders
- CHROMOSOMAL MICROARRAY: Prenatal and postnatal testing services
- BIOCHEMICAL GENETICS: Improved screening approaches
- NONINVASIVE PRENATAL SCREENING: Cell-free DNA screening for chromosomal abnormalities
- LYSOSOMAL STORAGE DISORDERS: Newborn screening and comprehensive follow-up testing
- MAYO CLINIC PRESENTATIONS: Featured Oral and Poster Presentations
Next-generation sequencing (NGS) has emerged as an accurate, cost-effective method to identify inherited variants across numerous genes known to be associated cardiac disorders. Our targeted cardiovascular NGS panels include evaluations for:
- Hypertrophic Cardiomyopathy (26 genes)
- Dilated Cardiomyopathy (30 genes)
- Comprehensive Cardiomyopathy (55 genes)
- Arrhythmogenic Cardiomyopathy (9 genes)
- Marfan Syndrome & Related Disorders (13 genes)
- Noonan Syndrome & Related Disorders (11 genes)
- Long QT Syndrome (13 genes)
- Brugada Syndrome (9 genes)
- Overview and comparison genes included in each panel [PDF Chart]
- Marfan Syndrome and Related Disorders Multi-Gene Panel [Test Sheet]
Mayo Clinic Cytogenetic Laboratory is pleased to announce the release of an Oligonucleotide + Single Nucleotide Polymorphism (SNP) chromosomal microarray for prenatal diagnosis. This assay will be performed on either chorionic villi or amniotic fluid specimens for the diagnosis of unbalanced chromosome rearrangements and aneuploidy.
- Chromosomal Microarray for Prenatal Diagnosis [Q&A]
- Chromosomal Microarray Copy Number + SNP [Q&A]
- Chromosomal Microarray, Prenatal, Amniotic Fluid /
Chorionic Villus Sampling [Test Catalog]
- Chromosomal Microarray, Congenital, Blood [Test Catalog]
BIOCHEMICAL GENETICS: FEATURED BIOMARKER TESTS
Benefits of Biomarker Testing
- Requires minimal specimen, and in some cases, requires only a dried blood spot
- Cost-effective and time saving
- May be used as a proxy for, or adjunct to, traditional enzymatic analysis
Featured Biomarker Tests
- Featured Biomarker Tests [Informational PDF]
- Test Catalog:
- Bile Acids
- Ceramide Trihexoside/Sulfatides (Fabry disease, MLD, MSD, SAP-B deficiency)
- Frataxin (Friedrich Ataxia)
- Glucopsychosine (Gaucher Disease)
- Hyperoxaluria Panel (Hyperoxaluria)
- Lysosomal Acid Lipase: Blood Spot | Blood
- Oxysterols (Niemann-Pick Disease)
- Polyols (Transaldolase Deficiency)
- Psychosine (Krabbe disease)
NONINVASIVE PRENATAL SCREENING
The new Cell-Free DNA Prenatal Screen is now available to the Mayo Clinic practice and Mayo Medical Laboratories clients located in the North and South American continents. If you reside outside of this authorized region, please contact an alternative provider to perform similar testing.
This test detects common chromosome abnormalities without the risk of pregnancy loss associated with invasive prenatal procedures. Chromosomal aneuploidy is the leading known genetic cause of miscarriage and congenital birth defects, including Down syndrome, trisomy 13, and trisomy 18.
- Cell-Free DNA Prenatal Screen [A Test in Focus]
- High-Risk Pregnancy Laboratory Testing [Algorithm]
- High-Risk Pregnancy Based on Abnormal Fetal Malformations: Laboratory Testing [Algorithm]
LYSOSOMAL STORAGE DISORDERS
Lysosomal storage disorders are a diverse group of inherited diseases where macromolecules accumulate due to defects in their transport mechanisms across the lysosomal membrane or due to defective lysosomal enzyme function.
Accumulation of these macromolecules leads to cell damage and, eventually, organ dysfunction. More than 40 lysosomal storage disorders have been described with a wide phenotypic spectrum.
- FABRY DISEASE: AGABS, AGA, AGAS, CTSA, FABRZ
- GAUCHER DISEASE: BGL, GAUP, GBAZ, GPSY
- KRABBE DISEASE: PSY, CBGC, CBGT, KRABZ
- MUCOPOLYSACCHARIDOSIS I (MPS-I): MPSQN, MPSSC
- NIEMANN-PICK A/B DISEASE: OXYBS, NPABP, NPABZ
- NIEMANN-PICK C DISEASE: OXYBS, OXNP, NIEM, NPCZ
- PEROXISOMAL AND LYSOSOMAL STORAGE DISEASE PANEL: PLSD
- POMPE DISEASE: GAABS, GAAZ
- X-LINKED ADRENOLEUKODYSTROPHY (X-ALD): POX, POXP, XALDZ
FEATURED ORAL PRESENTATIONS
WEDNESDAY, MARCH 9
8:00 A.M. - 9:30 A.M.
CONSUMER GENETIC EDUCATION AND THE RESPONSIBLE RETURN OF PERSONAL GENETIC VARIANTS
- Speaker: Matthew Ferber, PhD, FACMG
- Session Title: The Rising Tide of Patient Initiated Testing: What are the Consequences for Patients and Health Professionals?
- Type & Location: Satellite symposia. Marriott Grand Ballroom A-E, Marriott Tampa Waterside.
10:00 A.M. - 12:00 P.M.
HOW TO BE AN INTELLIGENT CONSUMER - RELEVANT LABORATORY ISSUES IN NBS FOR LYSOSOMAL STORAGE DISORDERS
- Speaker: Dietrich Matern, MD, PhD, FACMG
- Session Title: Managing Positive Newborn Screens for Lysosomal Storage Disorders
- Type & Location: Scientific Concurrent Session. Ballroom CD.
UTILITY OF CANCER SCREENING PANELS IN THE PREGNANT PATIENT
- Speaker: Myra Wick, MD, PhD, FACMG
- Session Title: Reproductive Genetics: Implications of the Latest Technologies
- Type & Location: Scientific Concurrent Session. Ballroom AB.
THURSDAY, MARCH 10
AN UNEXPECTED REVERSAL OF ROLES: THE INCREASING NEED FOR BIOCHEMICAL GENETICS TESTING TO VALIDATE LARGE SCALE GENOMIC TESTING
- Speaker: Amy White, MS
- Topic & Abstract Number: Biochemical Genetics. Abstract Number 1
- Type & Location: Oral Platform Presentation only. Central Exhibit Hall.
DOSAGE SENSITIVITY CURATION OF ACMG GENES RECOMMENDED FOR REPORTING OF SECONDARY FINDINGS
- Speaker: Erik Thorland, PhD, FACMG
- Topic & Abstract Number: Clinical Cytogenetics. Abstract Number 46
- Type & Location: Oral Platform Presentation only. Ballroom CD.
FEATURED POSTER PRESENTATIONS
ACCURATE GENOTYPING OF SCAD DEFICIENCY BY MULTIVARIATE PATTERN RECOGNITION OF PLASMA ACYLCARNITINE AND URINE ACYLGLYCINE PROFILES
- Presenting Author: Ianko D. Iankov, MD, PhD
- Topic & Abstract Number: Biochemical Genetics. Abstract Number 73.
CHARACTERIZATION OF DE NOVO APPARENTLY BALANCED CHROMOSOMAL REARRANGEMENTS BY WHOLE GENOME MATE PAIR SEQUENCING
- Presenting Author: Cherisse A. Marcou, PhD
- Topic & Abstract Number: Clinical Cytogenetics. Abstract Number 133.
CLIR POST-ANALYTICAL INTERPRETIVE TOOLS BASED ON PLASMA ACYLCARNITINE PROFILES ALLOW AN ACCURATE DIFFERENTIAL DIAGNOSIS BETWEEN PROPIONIC ACIDEMIA AND METHYLMALONIC ACIDEMIAS
- Presenting Author: Ross Ridsdale, PhD
- Topic & Abstract Number: Biochemical Genetics. Abstract Number 62.
GM2 GANGLIOSIDOSES: DEFINING TESTING STRATEGIES
- Presenting Author: Amy White, MS
- Topic & Abstract Number: Biochemical Genetics. Abstract Number 88.