MOLECULAR STUDY CONGENITAL NEPHROTIC SYNDROME TYPE 4, WT1 GENE, SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4322

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	32 days
Information:
Nephrotic syndrome type 4 (NPHS4), is caused by mutation in the Wilms tumor suppressor gene (WT1; 607102) on chromosome 11p13. Mutation in the WT1 gene can also cause isolated Wilms tumor (194070), as well as Denys-Drash syndrome (DDS; 194080), which is characterized by nephrotic syndrome and the additional features of male pseudohermaphroditism, with or without Wilms tumor.
Links:
OMIM Entry - # 194070 - WILMS TUMOR 1; WT1
OMIM Entry - # 194080 - DENYS-DRASH SYNDROME; DDS
OMIM Entry - # 256370 - NEPHROTIC SYNDROME, TYPE 4; NPHS4
OMIM Entry - - 607102 - WT1 GENE; WT1

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