PMID- 24024523
OWN - NLM
STAT- MEDLINE
DCOM- 20140701
LR  - 20211021
IS  - 1945-0257 (Electronic)
IS  - 1945-0265 (Print)
IS  - 1945-0257 (Linking)
VI  - 17
IP  - 11
DP  - 2013 Nov
TI  - Evaluation of real-time quantitative PCR as a standard cytogenetic diagnostic 
      tool for confirmation of microarray (aCGH) results and determination of 
      inheritance.
PG  - 821-5
LID - 10.1089/gtmb.2013.0284 [doi]
AB  - AIM: To evaluate the use of real-time quantitative PCR (qPCR) as a diagnostic 
      tool for follow up of abnormal microarray (aCGH) results. METHOD: qPCR was 
      performed on 207 samples with known aCGH results to detect chromosomal 
      abnormality and determine the capability of qPCR. Eighty-four samples were 
      processed and the results compared with the original aCGH result and with one or 
      more of the alternative follow-up methods: aCGH, fluorescence in situ 
      hybridization (FISH), or karyotyping. A separate cohort of 107 samples was used 
      to determine critical threshold values for qPCR. A further 16 samples were 
      assessed in reproducibility and sensitivity studies. RESULTS: All qPCR findings 
      were consistent with the original aCGH results, and qPCR was found to be a 
      superior follow-up method compared to FISH and karyotyping. Critical threshold 
      values were also determined from this study. CONCLUSION: In this study, qPCR 
      analysis identified all copy number changes. qPCR is an accurate, rapid, 
      reliable, and inexpensive technique for confirming copy number changes, and for 
      determining the inheritance of such abnormalities to aid interpretation of 
      results. We also present the critical threshold values required for qPCR as a 
      practical tool. This technique has now been successfully implemented as part of 
      the clinical diagnostic service within our laboratory.
FAU - Wang, Rubin
AU  - Wang R
AD  - NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children , 
      London, United Kingdom .
FAU - Carter, Jenny
AU  - Carter J
FAU - Lench, Nicholas
AU  - Lench N
LA  - eng
PT  - Evaluation Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20130911
PL  - United States
TA  - Genet Test Mol Biomarkers
JT  - Genetic testing and molecular biomarkers
JID - 101494210
SB  - IM
MH  - Case-Control Studies
MH  - Cohort Studies
MH  - *Comparative Genomic Hybridization/standards
MH  - *Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - Inheritance Patterns/*genetics
MH  - Male
MH  - Real-Time Polymerase Chain Reaction/*methods/standards
MH  - Sensitivity and Specificity
MH  - Validation Studies as Topic
PMC - PMC3816777
EDAT- 2013/09/13 06:00
MHDA- 2014/07/02 06:00
PMCR- 2014/11/01
CRDT- 2013/09/13 06:00
PHST- 2013/09/13 06:00 [entrez]
PHST- 2013/09/13 06:00 [pubmed]
PHST- 2014/07/02 06:00 [medline]
PHST- 2014/11/01 00:00 [pmc-release]
AID - 10.1089/gtmb.2013.0284 [pii]
AID - 10.1089/gtmb.2013.0284 [doi]
PST - ppublish
SO  - Genet Test Mol Biomarkers. 2013 Nov;17(11):821-5. doi: 10.1089/gtmb.2013.0284. 
      Epub 2013 Sep 11.