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Unit Code 89073:
Familial Hypercholesterolemia, LDLR Large Deletion/Duplication, Molecular Analysis

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Method Description

Multiplex ligation-dependent probe amplification (MLPA) is used to

detect the presence of large genomic deletions and duplications of

all 18 exons and the promoter of LDLR. MLPA requires the

hybridization of 2 adjacent probes to each exon; these probes are

then amplified by PCR. Deletions are seen as decreased signal

relative to control probes arising from the deleted LDLR exon(s),

while duplications result in increased signal. (Package insert:

SALSA MLPA Kit P062B LDLR, MRC Holland)

Performing Laboratory Location

Rochester

Key