List of diseases covered by Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis

List of diseases covered by
Anophthalmia/Microphthalmia/Coloboma/
Anterior Segment Dysgenesis NGS panel

Gene Condition
ABCB6 Microphthalmia, isolated, with coloboma 7
ALDH1A3 Microphthalmia, isolated 8
ASPH Facial dysmorphism, lens dislocation,
anterior segment abnormalities, and spontaneous filtering blebs
BCOR Oculofaciocardiodental syndrome
B3GLCT Peters plus syndrome
BMP4 Microphthalmia syndromic 6
CHD7 CHARGE association
COL4A1 Brain small vessel disease with hemorrhage
CYP1B1 Anterior segment dysgenesis 6
EYA1 Anterior segment anomalies with or without cataract
FOXC1 Anterior segment dysgenesis 3
FOXE3 Aphakia, congenital primary
GDF3 Microphthalmia, isolated 7; Microphthalmia, isolated, with coloboma 6
GDF6 Microphthalmia, isolated 4
HCCS Linear skin defects with multiple congenital anomalies 1
HESX1 Septo-optic dysplasia sequence
HMGB3 Microphthalmia, syndromic 13
LTBP2 Microspherophakia
MAB21L2 Microphthalmia/coloboma and skeletal dysplasia syndrome
MFRP Microphthalmia, isolated 5
OTX2 Microphthalmia syndromic 5
PAX6 Optic nerve hypoplasia, bilateral
PITX2 Iridogoniodysgenesis, dominant type
PRSS56 Microphthalmia, isolated 6
RARB Microphthalmia, syndromic 12
RAX Microphthalmia, isolated 3
SIX6 Optic disc anomalies with retinal and/or macular dystrophy
SLC38A8 Foveal hypoplasia 2
SMOC1 Microphthalmia with limb anomalies
SOX2 Microphthalmia, syndromic 3
STRA6 Microphthalmia syndromic 9
TENM3 Microphthalmia, isolated, with coloboma 9
VAX1 Microphthalmia, syndromic 11
VSX1 Craniofacial anomalies and anterior segment dysgenesis syndrome
VSX2 Microphthalmia, isolated 2; Microphthalmia, isolated, with coloboma 3

Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis NGS panel

Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis NGS panel

Genes: ABCB6, ALDH1A3, ASPH, BCOR, B3GLCT, BMP4, CHD7, COL4A1, CYP1B1, EYA1, FOXC1, FOXE3, GDF3, GDF6, HCCS, HESX1, HMGB3, LTBP2, MAB21L2, MFRP, OTX2, PAX6, PITX2, PRSS56, RARB, RAX, SIX6, SLC38A8, SMOC1, SOX2, STRA6, TENM3, VAX1, VSX1, VSX2

List of diseases covered by the panel


Price / TAT: 1314 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

4 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