Comparing two diagnostic laboratory tests for several microdeletions causing mental retardation syndromes: multiplex ligation-dependent amplification vs fluorescent in situ hybridization.
BACKGROUND
Microdeletion syndromes not detectable by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). Therefore, it is essential to ensure that patients with MR are screened for these microdeletion syndromes. Mental retardation syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new technique for measuring sequence dosages that allows for the detection of copy number changes of several microdeletion syndromes (1p36 deletion syndrome, Williams syndrome, Smith-Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/Angelman syndrome, Alagille syndrome, Saethre-Chotzen syndrome, and Sotos syndrome) to be processed simultaneously, thus significantly reducing the amount of laboratory work.


METHODS
We assessed the performance of MLPA (MRC-Holland, The Netherlands) for the detection of microdeletion syndromes by comparing the results with those generated using FISH assays. MLPA analysis was carried out on 12 patients with microdeletion confirmed by FISH (three DiGeorge syndrome, four Williams syndrome, four Prader-Willi syndrome, and one Miller-Dieker syndrome).


RESULTS
The results of MLPA analysis showed a complete concordance with FISH in 12 patients with microdeletion syndromes.


CONCLUSIONS
On the basis of these results, we conclude that MLPA is an accurate, reliable, and cost-effective alternative to FISH in the screening for microdeletion syndromes.
Cho
Eun Hae
EH
Greencross Reference Laboratory, Yongin, Korea. ehcho@mail.gcrl.co.kr
Park
Bo Ya Na
BY
Cho
Jung Hee
JH
Kang
You Sun
YS
D002872:Chromosome Deletion; D054221:Classical Lissencephalies and Subcortical Band Heterotopias / Q000235:genetics; D004062:DiGeorge Syndrome / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D007755:Laboratories, Hospital; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D011218:Prader-Willi Syndrome / Q000235:genetics; D018980:Williams Syndrome / Q000235:genetics