MOLECULAR STUDY ROBINOW (WNT5A GENE) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4242

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	32 days
Information:
Robinow syndrome is a hereditary disease, extremely rare, with a frequency of 1 per 500,000 births. It is characterized by face reminiscent of a fetus of 8 weeks, and acromelic and mesomelic shortening, shortering of the upper extremities and genital hypoplasia. In some cases, Robinow syndrome has autosomal dominant inheritance, in other cases, the disease may have an autosomal recessive inheritance. The recessive form is more severe, but clinically indistinguishable. Have been described WNT5A mutations cause the dominant form of Robinow syndrome and ROR2 mutations cause the recessive form of the syndrome.
Links:
OMIM Entry - # 180700 - ROBINOW SYNDROME, AUTOSOMAL DOMINANT; DRS
OMIM Entry - - 164975 - WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5A; WNT5A

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