List of diseases covered by Frazer Syndrome NGS panel

Published 12/11/2020

List of diseases covered by
Frazer Syndrome NGS panel

Gene Condition
EYA1 Otofaciocervical syndrome;
Anterior segment anomalies with or without cataract; ranchiootic syndrome 1;
Branchiootorenal syndrome 1, with or without cataracts
FREM1 Bifid nose with or without anorectal and renal anomalies;
Manitoba oculotrichoanal syndrome; Trigonocephaly 2
FREM2 Cryptophthalmos, unilateral or bilateral, isolated; Fraser syndrome 2
FRAS1 Fraser syndrome 1
GRIP1 Fraser syndrome 3
SIX1 Branchiootic syndrome 3; Deafness, autosomal dominant 23
SIX5 Branchiootorenal syndrome 2

Frazer Syndrome NGS panel

Published 12/12/2018

Frazer Syndrome NGS panel

Genes
(full coding
region):		 EYA1, GRIP1, FREM1, FREM2, FRAS1, SIX1, SIX5

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form