List of diseases covered by Ectopia Lentis NGS panel

Published 06/05/2019

List of diseases covered by Ectopia Lentis NGS panel

Gene Condition
AASS Hyperlysinemia
ADAMTS10 Weill-Marchesani syndrome 1, recessive
ADAMTS17 Weill-Marchesani 4 syndrome, recessive
ADAMTSL4 Ectopia lentis et pupillae; Ectopia lentis, isolated, autosomal recessive
ASPH Traboulsi syndrome
BCOR Microphthalmia, syndromic 2
CBS Homocystinuria, B6-responsive and nonresponsive types
COL8A2 Corneal dystrophy, Fuchs endothelial, 1;
Corneal dystrophy, posterior polymorphous 2
COL18A1 Knobloch syndrome, type 1
CYP1B1 Anterior segment dysgenesis 6, multiple subtypes;
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset
FBN1 Ectopia lentis, familial; Acromicric dysplasia;
Geleophysic dysplasia 2; Marfan lipodystrophy syndrome;
Marfan syndrome; MASS syndrome; Stiff skin syndrome;
Weill-Marchesani syndrome 2, dominant
FOXC1 Anterior segment dysgenesis 3, multiple subtypes;
Axenfeld-Rieger syndrome, type 3
LTBP2 Microspherophakia and/or megalocornea,
with ectopia lentis and with or without secondary glaucoma;
Glaucoma 3, primary congenital, D; Weill-Marchesani syndrome 3, recessive
PAX6 Aniridia;
Anterior segment dysgenesis 5, multiple subtypes;
Foveal hypoplasia 1; Keratitis; Optic nerve hypoplasia;
Coloboma of optic nerve; Coloboma, ocular
P3H2 Myopia, high,
with cataract and vitreoretinal degeneration
PORCN Focal dermal hypoplasia
SUOX Sulfite oxidase deficiency
VSX2 Microphthalmia with coloboma 3;
Microphthalmia, isolated 2

Ectopia Lentis NGS panel

Published 06/05/2019

Ectopia Lentis NGS panel

Genes: AASS, ADAMTS10, ADAMTS17, ADAMTSL4, ASPH, BCOR, CBS, COL8A2, COL18A1, CYP1B1, FBN1, FOXC1, LTBP2, PAX6, P3H2, PORCN, SUOX, VSX2

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