MOLECULAR STUDY MICROPTHALMIA LENZ TYPE (Pro85Leu SCREE NING, GEN BCOR), SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4321

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	27 days
Information:
Lenz microphthalmia syndrome (LMS) is characterized by unilateral or bilateral microphthalmia and/or clinical anophthalmia with malformations of the ears, teeth, fingers, skeleton, and/or genitourinary system. This condition is inherited in an X-linked recessive pattern. Mutations in at least two genes on the X chromosome are thought to be responsible for Lenz microphthalmia syndrome. Only one of these genes, BCOR, has been identified. BCOR mutation p.Pro85Leu, the only mutation found, thus far, in the only two individuals with LMS with mutation identified to date. Targeted mutational screening or whole gene sequencing can be performed
Links:
OMIM Entry - # 300166 - MICROPHTHALMIA, SYNDROMIC 2; MCOPS2
OMIM Entry - - 300485 - BCL6 COREPRESSOR; BCOR

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