Publications regarding our use of MLPA kits

Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances.
Kjaergaard S, Sundberg K, Jørgensen FS, Rohde MD, Lind AM, Gerdes T, Tabor A, Kirchhoff M.
Prenat Diagn 2010; 30: 995-999. DOI: 10.1002/pd.2604

Multiplex ligation-dependent probe amplification (MLPA) in prenatal diagnosis - experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and Y.
Tommy Gerdes, Maria Kirchhoff, Anne-Marie Lind, Gitte Vestergaard Larsen, Susanne Kjaergaard
Prenat Diagn 2008; 28: 1119–1125. DOI: 10.1002/pd.2137

Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification.
Huang CH, Chang YY, Chen CH, Kuo YS, Hwu WL, Gerdes T, Ko TM.
Genet Med 2007 Apr;9(4): 241-248. DOI: 10.1097/GIM.0b013e31803d35bc
SALSA MLPA KIT P021 SMA (spinal muscular atrophy)

MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.
Kirchhoff M, Bisgaard AM, Bryndorf T, Gerdes T.
Eur J Med Genet. 2007 Jan-Feb;50(1): 33-42. Epub 2006 Oct 10. DOI: 10.1016/j.ejmg.2006.10.002

Investigation of patients with mental retardation and dysmorphic features using comparative genomic hybridization and subtelomeric multiplex ligation dependent probe amplification.
Kirchhoff M, Gerdes T, Brunebjerg S, Bryndorf T. (Research Letter, no abstract available)
Am J Med Genet A. 2005 Dec 15;139(3): 231-3. DOI: 10.1002/ajmg.a.31019

Automatic analysis of multiplex ligation-dependent probe amplification products
(exemplified by a commercial kit for prenatal aneuploidy detection).

Gerdes T, Kirchhoff M, Bryndorf T.
Electrophoresis. 2005 Nov;26(22): 4327-32. DOI: 10.1002/elps.200500390

Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA).
Gerdes T, Kirchhoff M, Lind AM, Larsen GV, Schwartz M, Lundsteen C.
Eur J Hum Genet. 2005 Feb;13(2): 171-5. DOI: 10.1038/sj.ejhg.5201307