Genetic Testing Services (RUO)

Research use only

ABCA4 Single Gene Sequencing

Specimen	2–4 mL of blood with anticoagulant EDTA
Lab method	Next generation sequencing. Our solution entails a targeted full-genomic sequencing approach that enables deep sequencing of a gene's complete genomic sequence, encompassing its enhancers, promoters, exons, shallow introns and, importantly, the deep introns.

Indications for genetic testing

• Confirmation of clinical diagnosis
• Carrier testing for at-risk family members
• Genetic counseling
• Prenatal diagnosis for known familial mutation

Autosomal recessive Stargardt disease is a juvenile-onset macular dystrophy associated with rapid central visual impairment, progressive bilateral atrophy of the foveal retinal pigment epithelium, and the frequent appearance of yellowish flecks around the macula and/or in the central and near-peripheral areas of the retina.

Research use only

Urea Cycle Disorder (UCD) Panel

Specimen	2–4 mL of blood with anticoagulant EDTA
Lab method	Next generation sequencing. The UCD panel encompasses capture probes designed for eight genes, namely ARG1, ASL, ASS1, CPS1, NAGS, OTC, SLC25A13 and SLC25A15. Our solution entails a targeted full-genomic sequencing approach that enables deep sequencing of a gene's complete genomic sequence, encompassing its enhancers, promoters, exons, shallow introns and, importantly, the deep introns.

Indications for genetic testing

• Confirmation of clinical diagnosis
• Carrier testing for at-risk family members
• Genetic counseling
• Prenatal diagnosis for known familial mutation

Conditions covered by the UCD panel

Gene	Condition
ARG1	Argininemia
ASL	Argininosuccinic aciduria
ASS1	Citrullinemia
CPS1	Carbamoylphosphate synthetase I deficiency
NAGS	N-acetylglutamate synthase deficiency
OTC	Ornithine transcarbamylase deficiency
SLC25A13	Citrullinemia, adult-onset type II; Citrullinemia, type II, neonatal-onset
SLC25A15	Hyperornithinemia–hyperammonemia–homocitrullinemia syndrome