List of diseases covered by Urea Cycle Disorder NGS panel

Published 02/07/2018

List of diseases covered by
Urea Cycle Disorder NGS panel

Gene Condition
ARG1 Argininemia
ASL Argininosuccinic aciduria
ASS1 Citrullinemia
CPS1 Carbamoylphosphate synthetase I deficiency
NAGS N-acetylglutamate synthase deficiency
OAT Gyrate atrophy of choroid and retina with or without ornithinemia
OTC Ornithine transcarbamylase deficiency
SLC7A7 Lysinuric protein intolerance
SLC25A13 Citrullinemia, adult-onset type II; Citrullinemia, type II, neonatal-onset
SLC25A15 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome

Urea Cycle Disorder NGS panel

Published 31/10/2017

Urea Cycle Disorder
NGS panel

Genes
(full coding
region):		 ARG1, ASL, ASS1, CPS1, NAGS, OAT, OTC, SLC7A7, SLC25A13, SLC25A15

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

Deletion/duplication analysis of the OTC gene

Genes: OTC
Lab method: MLPA
TAT: 4-6 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