MOLECULAR STUDY FGS1 AND LUJAN SYNDROMES (MED12 GENE SCREENING, MUTATIONS R961W, S1007N) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4326

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	30 days
Information:
The phenotypic spectrum of MED12-related disorders, which is still being defined, includes at a minimum the phenotypes of FG syndrome type 1 (FGS1) and Lujan syndrome (LS). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. Carrier females in families with FGS1 and LS are typically unaffected. The diagnosis of MED12-related disorders relies on molecular genetic testing for common MED12 mutations by sequence analysis of select exons or targeted mutation analysis, followed by sequence analysis of the entire gene.
Links:
MED12-Related Disorders - GeneReviews™ - NCBI Bookshelf
OMIM Entry - # 305450 - OPITZ-KAVEGGIA SYNDROME; OKS
OMIM Entry - # 309520 - LUJAN-FRYNS SYNDROME
OMIM Entry - - 300188 - MEDIATOR COMPLEX SUBUNIT 12; MED12

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