MRC-Holland - MLPA Procedure - Raw data evaluation

	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)

Raw data evaluation

Raw data evalution checklist
During fragment separation of the MLPA amplification products, the settings of the capillary electrophoresis instrument may not have been optimal. In addition, sample contamination or failures in the performance of the MLPA reaction can lead to unreliable fragment separation. Therefore, electropherograms of your raw data should be checked prior to analysis.

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