PMID- 12509717
OWN - NLM
STAT- MEDLINE
DCOM- 20030507
LR  - 20220210
IS  - 1098-3600 (Print)
IS  - 1098-3600 (Linking)
VI  - 4
IP  - 6
DP  - 2002 Nov-Dec
TI  - Diagnostic testing for Prader-Willi syndrome and Angelman syndrome: a cost 
      comparison.
PG  - 448-50
AB  - PURPOSE: Considering cost as a factor, the authors evaluated three approaches to 
      the diagnostic testing of Prader-Willi syndrome (PWS) and Angelman syndrome (AS). 
      METHODS: The approaches evaluated were (1) DNA methylation studies followed by 
      fluorescence in situ hybridization (FISH) for any positive DNA result, (2) FISH 
      analysis followed by DNA testing for any negative result, and (3) simultaneous 
      DNA testing and FISH analysis. RESULTS: Of 136 samples submitted for chromosome 
      analysis and DNA methylation analysis for PWS or AS, 114 had a normal chromosome 
      analysis and methylation studies, 9 were positive for AS, 3 were positive for 
      PWS, and 7 had an abnormal chromosome analysis, but not deletion 15q11.2-q13, and 
      normal methylation studies. On the basis of these results, the authors compared 
      the cost of each testing strategy. CONCLUSION: DNA methylation studies followed 
      by confirmation with FISH for any positive result yields a significant cost 
      savings compared with the other approaches.
FAU - Monaghan, Kristin G
AU  - Monaghan KG
AD  - Department of Medical Genetics, Henry Ford Hospital, Detroit, Michigan 48202, 
      USA.
FAU - Wiktor, Anne
AU  - Wiktor A
FAU - Van Dyke, Daniel L
AU  - Van Dyke DL
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PL  - United States
TA  - Genet Med
JT  - Genetics in medicine : official journal of the American College of Medical 
      Genetics
JID - 9815831
SB  - IM
MH  - Angelman Syndrome/*diagnosis/economics/genetics
MH  - DNA Methylation
MH  - Diagnostic Techniques and Procedures/*economics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/economics
MH  - Prader-Willi Syndrome/*diagnosis/economics/genetics
EDAT- 2003/01/02 04:00
MHDA- 2003/05/08 05:00
CRDT- 2003/01/02 04:00
PHST- 2003/01/02 04:00 [pubmed]
PHST- 2003/05/08 05:00 [medline]
PHST- 2003/01/02 04:00 [entrez]
AID - S1098-3600(21)03023-9 [pii]
AID - 10.1097/00125817-200211000-00009 [doi]
PST - ppublish
SO  - Genet Med. 2002 Nov-Dec;4(6):448-50. doi: 10.1097/00125817-200211000-00009.