Aperçu: G.M.
L'analyse de biopuce chromosomique (CMA) est reconnue comme le test
de premier niveau dans l'évaluation génétique des enfants présentant
des retards de développement, des troubles intellectuels, des anomalies
congénitales et des troubles du spectre de l'autisme d'étiologie inconnue.
L'étude propose des
données démontrant la validité analytique et clinique de FSDX et
fournit un aperçu des résultats des 7 500 premiers patients
consécutifs testés cliniquement.
Il est en outre démontré que l'échantillonnage buccal est une méthode
efficace d'obtention d'échantillons d'ADN, ce qui peut fournir des
résultats améliorés par rapport à l'échantillonnage sanguin traditionnel
chez les patients souffrant de troubles neurodéveloppementaux.
PLoS Curr.
2017 Feb 27;9. pii: ecurrents.eogt.7d92ce775800ef3fbc72e3840fb1bc22.
doi: 10.1371/currents.eogt.7d92ce775800ef3fbc72e3840fb1bc22.
Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions
Hensel C1, Vanzo R2, Martin M1, Dixon S3, Lambert C4, Levy B5, Nelson L6, Peiffer A7, Ho KS7, Rushton P1, Serrano M1, South S8, Ward K6, Wassman E1.
Author information
- 1
- Lineagen, Inc., Salt Lake City, Utah, USA.
- 2
- Clinical Genetic Services, Lineagen, Inc., Salt Lake City, Utah, USA.
- 3
- Operations, Lineagen, Inc., Salt Lake City, Utah, USA.
- 4
- Department of Internal Medicine, Center for Global Health, Division of Translational Informatics, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA.
- 5
- Department of Pathology & Cell Biology, Columbia University Medical Center, New York, New York, USA.
- 6
- Affiliated Genetics Laboratory, Inc., Salt Lake City, Utah, USA.
- 7
- Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA; Lineagen, Inc., Salt Lake City, Utah, USA.
- 8
- ARUP Laboratories, Salt Lake City, Utah, USA; 23andMe, Inc., Mountain View, California, USA.
Abstract
INTRODUCTION:
Chromosomal microarray analysis (CMA) is recognized as the first-tier test in the genetic evaluation of children with developmental delays, intellectual disabilities, congenital anomalies and autism spectrum disorders of unknown etiology.ARRAY DESIGN:
To optimize detection of clinically relevant copy number variants associated with these conditions, we designed a whole-genome microarray, FirstStepDx PLUS (FSDX). A set of 88,435 custom probes was added to the Affymetrix CytoScanHD platform targeting genomic regions strongly associated with these conditions. This combination of 2,784,985 total probes results in the highest probe coverage and clinical yield for these disorders.RESULTS AND DISCUSSION:
Clinical testing of this patient population is validated on DNA from either non-invasive buccal swabs or traditional blood samples. In this report we provide data demonstrating the analytic and clinical validity of FSDX and provide an overview of results from the first 7,570 consecutive patients tested clinically. We further demonstrate that buccal sampling is an effective method of obtaining DNA samples, which may provide improved results compared to traditional blood sampling for patients with neurodevelopmental disorders who exhibit somatic mosaicism.- PMID: 28357155
- PMCID: PMC5346028
- DOI: 10.1371/currents.eogt.7d92ce775800ef3fbc72e3840fb1bc22
