MOLECULAR STUDY GELEOPHYSIC DYSPLASIA TYPE 1 (ADAMTSL2) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4380

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	45 days
Information:
Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy''). Fewer than 30 cases have been reported to date. The characteristic facial appearance (''happy'' face) consists in a shortened nose, full cheeks, hypertelorism, long flat philtrum, and a thin upper lip. Mutations have been found in the ADAMTSL2 (TYPE 1) and FBN1 (TYPE 2) genes. Transmission is autosomal recessive in the cases with ADAMTSL2 gene mutations and autosomal dominant in the cases with FBN1 mutations.
Links:
OMIM Entry - # 231050 - GELEOPHYSIC DYSPLASIA 1; GPHYSD1
Orphanet- Geleophysic dysplasia
OMIM Entry - - 612277 - ADAMTS-LIKE PROTEIN 2; ADAMTSL2

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