FRASER SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 4 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Fraser Syndrome panel analyzes the FRAS1, FREM1, FREM2, and GRIP1 genes, which are implicated in this autosomal recessive congenital disorder characterized by cryptophthalmia, syndactyly, genitourinary, renal, and respiratory malformations, as well as high clinical variability and severity. These proteins participate in epithelial-mesenchymal formation and adhesion during embryonic development, and are essential for the proper morphogenesis of multiple organs. Using next-generation sequencing (NGS) with the detection of SNVs, indels, and CNVs, this panel allows for confirmation of the molecular diagnosis, guides prognosis, and facilitates family genetic counseling. The included genes are FRAS1, FREM1, FREM2, and GRIP1.
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