MRC-Holland - MLPA Procedure - Fragment separation

	introduction
	experimental set up
	sample treatment
	MLPA reaction
	fragment separation
	raw data evaluation
	peak pattern evaluation
	data analysis
	result interpretation
	troubleshooting

new products
P339-SHANK3 Autism Spectrum Disorder
P010-POLG Mitochondrial maintenance
P366-CHM-RP2-RPGR Retinitis pigmentosa (RP)
P350-CLCN1-KCNJ2 Myotonia congenita, Thomsen’s disease, Becker’s disease, Andersen-Tawil syndrome
P273-PCSK5 Atherosclerotic cardiovascular disease (risk of)

improved products
P044-NF2 Neurofibromatosis type 2 (NF2)
P199-HEXA Tay-sachs disease
P214-COL2A1 Skeletal disorders, Achondrogenesis, Chondrodysplasia, Early onset familial Osteoarthritis, SED congenital, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome, Spondyloepimetaphyseal
P280-SLC26A4 Pendred syndrome
P026-Sotos Sotos syndrome
ME011-MMR Mismatch repair genes (MMR)

Fragment separation

Optimising MLPA Fragment Separation
This document explains how to optimise MLPA signal intensities on your sequencer, an essential step in MLPA. It also specifies how much MLPA PCR reaction and which fluorescent primer label should be used in various capillary and non-capillary electrophoresis systems.

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