List of diseases covered by Congenital Stationary Night Blindness NGS panel

List of diseases covered by
Congenital Stationary Night Blindness NGS panel

Gene Condition
CABP4 Cone-rod synaptic disorder, congenital nonprogressive
CACNA1F Aland Island eye disease;
Cone-rod dystrophy, X-linked, 3;
Night blindness, congenital stationary (incomplete), 2A, X-linked
CHM Choroideremia
GNAT1 Night blindness, congenital stationary, autosomal dominant 3;
Night blindness, congenital stationary, type 1G
GRK1 Oguchi disease-2
GRM6 Night blindness, congenital stationary (complete), 1B,
autosomal recessive
NYX Night blindness, congenital stationary (complete), 1A,
X-linked
PDE6B Night blindness, congenital stationary,
autosomal dominant 2; Retinitis pigmentosa-40
RDH5 Fundus albipunctatus
RHO Night blindness, congenital stationary,
autosomal dominant 1;
Retinitis pigmentosa 4, autosomal dominant or recessive;
Retinitis punctata albescens
SAG Oguchi disease-1; Retinitis pigmentosa 47
SLC24A1 Night blindness, congenital stationary (complete), 1D,
autosomal recessive
TRPM1 Night blindness, congenital stationary (complete), 1C,
autosomal recessive

Updated version of Congenital Stationary Night Blindness genetic test is now available

Asper Biotech, in collaboration with scientific partners, has updated Congenital Stationary Night Blindness (CSNB) genetic test. The new version includes two additional genes – GRK1 and TRPM1, associated with Congenital Stationary Night Blindness. Now the CSNB microarray covers the analysis of 11 genes – RHO, PDE6B, GNAT1, CABP4, GRM6, SAG, NYX, CACNA1F, CACNA2D, GRK1, TRPM1 – and detects 159 mutations instead of 126 of the earlier version.

Congenital Stationary Night Blindness

Congenital Stationary Night Blindness NGS panel

Genes
(full
coding region):
CABP4, CACNA1F, CHM, GNAT1, GRK1, GRM6, NYX, PDE6B, RDH5, RHO, SAG, SLC24A1, TRPM1

List of diseases covered by the panel


Price / TAT: 1051 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

Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Carrier testing for at-risk family members
3. Genetic counseling

Congenital Stationary Night Blindness (CSNB) consists of a group of eye disorders clinically characterized by vision impairment under dim light conditions, nystagmus, refractive error, or retinal changes. Different types of disorder can be inherited in an autosomal dominant, autosomal recessive, or X-linked recessive manner.

Asper Ophthalmics

Asper Ophthalmics

Pricing

Achromatopsia
Age-Related Macular Degeneration
Aniridia
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis
Autosomal Dominant Retinitis Pigmentosa
Autosomal Recessive Retinitis Pigmentosa
Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy
Cataract
Choroideremia
Cone-Rod Dystrophy
Congenital Stationary Night Blindness
Corneal Dystrophy
Glaucoma
Leber Congenital Amaurosis
Leber Hereditary Optic Neuropathy

Norrie Disease
Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome
Optic Atrophy
Papillorenal Syndrome
Retinoblastoma
Senior-Loken Syndrome
Stargardt Disease
Usher Syndrome
Vitelliform Macular Dystrophy
Vitreoretinopathy
X-Linked Retinitis Pigmentosa (RPGR ORF15 included)
X-Linked Retinoschisis
Eye Diseases NGS panel of 283 genes
Whole Exome Sequencing

EMQN Certificate of Participation

Asper Ophthalmics is a comprehensive collection of genetic tests targeted at the diagnostics of a wide variety of hereditary ocular disorders, including retinal disorders, corneal dystrophies, and age related ophthalmic conditions.

Our genetic tests assist clinicians in confirming diagnoses and informing patients about their risks for inherited eye diseases.