Screening newborn blood spots for 22q11.2 deletion syndrome using multiplex droplet digital PCR

Clinical Chemistry

Volumn 61, Issue 1, 2015, Pages 182-190

  Pretto, Dalyir ^a   Maar, Dianna ^b   Yrigollen, Carolyn M ^a   Regan, Jack ^b   Tassone, Flora ^a,c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b BIO RAD LABORATORIES   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BLOOD; CHROMOSOME 22Q11.2 DELETION SYNDROME; CHROMOSOME DELETION 22Q11; CLINICAL ARTICLE; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC ACCURACY; DRIED BLOOD SPOT TESTING; GENETIC SCREENING; HUMAN; HUMAN CELL; LABORATORY; MULTIPLEX DROPLET DIGITAL POLYMERASE CHAIN REACTION; NEWBORN SCREENING; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; CHROMOSOME 22; COPY NUMBER VARIATION; DEVICES; DIGEORGE SYNDROME; EQUIPMENT DESIGN; GENE DELETION; GENETICS; HIGH THROUGHPUT SEQUENCING; NEWBORN; PROCEDURES;

DNA;

CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; DNA; DNA COPY NUMBER VARIATIONS; DRIED BLOOD SPOT TESTING; EQUIPMENT DESIGN; GENE DELETION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT, NEWBORN; POLYMERASE CHAIN REACTION;

EID: 84920517933     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2014.230086     Document Type: Article

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