List of diseases covered by Urea Cycle Disorder NGS panel

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

Urea Cycle Disorder
NGS panel

Genes: ARG1, ASL, ASS1, CPS1, NAGS, OAT, OTC, SLC7A7, SLC25A13, SLC25A15

List of diseases covered by the panel


Price / TAT: 1070 EUR / 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

Price / TAT: 310 EUR / 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