Senior-Loken Syndrome

Senior-Loken Syndrome NGS panel

Published 21/08/2019

Senior-Loken Syndrome NGS panel

Genes
(full coding
region):

CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19

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

Updates in Asper Ophthalmics

Published 12/10/2018

Asper Ophthalmics testing menu has been updated with Senior-Loken Syndrome gene panel. We have also added a number of genes to Cone-Rod Dystrophy, Vitelliform Macular Dystrophy, and comprehensive eye diseases panels. Comprehensive eye diseases panel now covers 283 genes associated with different eye disorders. View updated testing options at www.asperbio.com/asper-ophthalmics/

List of diseases covered by Senior-Loken Syndrome NGS panel

Published 05/10/2018

List of diseases covered by
Senior-Loken Syndrome NGS panel

Gene	Condition
CEP290	Senior-Loken syndrome 6; Joubert syndrome 5; Leber congenital amaurosis 10; Meckel syndrome 4; Bardet-Biedl syndrome 14
INVS	Nephronophthisis 2, infantile
IQCB1	Senior-Loken syndrome 5
NPHP1	Senior-Loken syndrome-1; Joubert syndrome 4; Nephronophthisis 1, juvenile
NPHP3	Nephronophthisis 3; Meckel syndrome 7; Renal-hepatic-pancreatic dysplasia 1
NPHP4	Senior-Loken syndrome 4
SDCCAG8	Senior-Loken syndrome 7; Bardet-Biedl syndrome 16
TRAF3IP1	Senior-Loken syndrome 9
WDR19	Senior-Loken syndrome 8; Nephronophthisis 13

Published 05/10/2018