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2017 ; 9
(ä): ä Nephropedia Template TP
gab.com Text
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English Wikipedia
Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal
Microarray Optimized for Patients with Neurodevelopmental Conditions
#MMPMID28357155
Hensel C
; Vanzo R
; Martin M
; Dixon S
; Lambert C
; Levy B
; Nelson L
; Peiffer A
; Ho KS
; Rushton P
; Serrano M
; South S
; Ward K
; Wassman E
PLoS Curr
2017[Feb]; 9
(ä): ä PMID28357155
show ga
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, FirstStep(Dx) 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.