Thursday, June 25, 2015

1p36 microdeletion syndrome (1p36 region) MLPA, whole blood

New Test in NOÛS Catalog

Test Code: 5227

Whole blood - EDTA (5 ml)
Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:
Delivery term:
25 days
1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency. 1p36 deletion syndrome is caused by a partial heterozygous deletion of mostly the distal part of the short arm of chromosome 1, with breakpoints ranging from 1p36.13 to 1p36.33. About 50% of cases are due to a de novo terminal 1p36 deletion, around 29% to an interstitial deletion; remaining cases comprise more complex chromosome rearrangements.

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