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 – more info
Congenital Stationary Night Blindness
| Gene Symbol | Aliases | Full Gene Name | Chr | Disorder | Mode of Inheritance | OMIM | HGNC ID |
| RHO | CSNBAD1; MGC138309; MGC138311; OPN2; RP4 | rhodopsin | 3q21-q24 | Congenital Stationary Night Blindness | autosomal dominant | +180380 | HGNC:10012 |
| GNAT1 | CSNBAD3; GBT1; GNATR |
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 |
3p21 | Congenital Stationary Night Blindness | autosomal dominant | *139330 | HGNC:4393 |
| PDE6B | CSNB3; PDEB; RP40; rd1 | phosphodies-terase 6B, cGMP-specific, rod, beta | 4p16.3 | Congenital Stationary Night Blindness | autosomal dominant | +180072 | HGNC:8786 |
| CABP4 | CSNB2B | calcium binding protein 4 |
11q13.1 | Congenital Stationary Night Blindness (incomplete) | autosomal recessive | *608965 | HGNC:1386 |
| GRM6 | CSNB1B; DKFZp686H1993; GPRC1F; MGLUR6; mGlu6 | glutamate receptor, metabotropic 6 | 5q35 | Congenital Stationary Night Blindness (complete) | autosomal recessive | *604096 | HGNC:4598 |
| SAG | DKFZp686D1084; DKFZp686I1383; RP47; S-AG | S-antigen, retina and pineal gland (arrestin) | 2q37.1 | Oguchi Disease | autosomal recessive | +181031 | HGNC:10521 |
| GRK1 | GPRK1; RHOK; RK |
G protein-coupled receptor kinase 1 | 13q34 | Oguchi Disease | autosomal recessive | +180381 | HGNC:10013 |
| CACNA1F | AIED; COD3; COD4; CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; Cav1.4; JM8; JMC8; OA2 | calcium channel, voltage-dependent, L type, alpha 1F subunit | Xp11.23 | Congenital Stationary Night Blindness (incomplete, CSNB2) | X-linked recessive | *300110 | HGNC:1393 |
| NYX | CLRP; CSNB1; CSNB4; MGC138447 | nyctalopin | Xp11.4 | Congenital Stationary Night Blindness (complete, CSNB1) | X-linked recessive | *300278 | HGNC:8082 |
| TRPM1 | MLSN1; CSNB1C; LTRPC1 | transient receptor potential cation channel, subfamily M, member 1 | 15q13.3 | Congenital Stationary Night Blindness (CSNB1C) | autosomal recessive | *603576 | HGNC:7146 |
Congenital Stationary Night Blindness
Congenital Stationary Night Blindness
| Gene Symbol | Aliases | Full Gene Name | Chr | Disorder | Mode of Inheritance | OMIM | HGNC ID |
| RHO | CSNBAD1; MGC138309; MGC138311; OPN2; RP4 | rhodopsin | 3q21-q24 | Congenital Stationary Night Blindness | autosomal dominant | +180380 | HGNC:10012 |
| GNAT1 | CSNBAD3; GBT1; GNATR |
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 |
3p21 | Congenital Stationary Night Blindness | autosomal dominant | *139330 | HGNC:4393 |
| PDE6B | CSNB3; PDEB; RP40; rd1 | phosphodies-terase 6B, cGMP-specific, rod, beta | 4p16.3 | Congenital Stationary Night Blindness | autosomal dominant | +180072 | HGNC:8786 |
| CABP4 | CSNB2B | calcium binding protein 4 |
11q13.1 | Congenital Stationary Night Blindness (incomplete) | autosomal recessive | *608965 | HGNC:1386 |
| GRM6 | CSNB1B; DKFZp686H1993; GPRC1F; MGLUR6; mGlu6 | glutamate receptor, metabotropic 6 | 5q35 | Congenital Stationary Night Blindness (complete) | autosomal recessive | *604096 | HGNC:4598 |
| SAG | DKFZp686D1084; DKFZp686I1383; RP47; S-AG | S-antigen, retina and pineal gland (arrestin) | 2q37.1 | Oguchi Disease | autosomal recessive | +181031 | HGNC:10521 |
| GRK1 | GPRK1; RHOK; RK |
G protein-coupled receptor kinase 1 | 13q34 | Oguchi Disease | autosomal recessive | +180381 | HGNC:10013 |
| CACNA1F | AIED; COD3; COD4; CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; Cav1.4; JM8; JMC8; OA2 | calcium channel, voltage-dependent, L type, alpha 1F subunit | Xp11.23 | Congenital Stationary Night Blindness (incomplete, CSNB2) | X-linked recessive | *300110 | HGNC:1393 |
| NYX | CLRP; CSNB1; CSNB4; MGC138447 | nyctalopin | Xp11.4 | Congenital Stationary Night Blindness (complete, CSNB1) | X-linked recessive | *300278 | HGNC:8082 |
| TRPM1 | MLSN1; CSNB1C; LTRPC1 | transient receptor potential cation channel, subfamily M, member 1 | 15q13.3 | Congenital Stationary Night Blindness (CSNB1C) | autosomal recessive | *603576 | HGNC:7146 |
CSNB
Congenital Stationary Night Blindness – CSNB
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 the disorder can be inherited in an autosomal dominant, autosomal recessive, or X-linked recessive manner.
The genetic test has been developed for screening mutations in three forms of CSNB: autosomal dominant, autosomal recessive and X-linked CSNB. The genetic test can be used to screen 159 mutations in 11 genes: RHO, PDE6B, GNAT1, CABP4, GRM6, SAG, NYX, CACNA1F, CACNA2D, GRK1 and TRPM1.
The CSNB test development and validation have been performed in collaboration with Dr. Christina Zeitz and Prof. Dr. Wolfgang Berger at the Division of Medical Molecular Genetics and Gene Diagnostics of the Institute of Medical Genetics at the University of Zurich (Switzerland).
ORDERING
Congenital Stationary Night Blindness – more info.
For further information:
Genotyping microarray for CSNB-associated genes
Zeitz C, Labs S, Lorenz B, Forster U, Üksti J, Kroes HY, De Baere E, Leroy BP, Cremers FPM, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer J, Hüffmeier U, Veselina Moskova-Doumanova, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet DF, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W
Investigative Ophthalmology and Visual Science, July 2, 2009
(Invest. Ophthalmol. Vis. Sci..2009; 0: iovs.09-3548v1)
CSNB
Congenital Stationary Night Blindness – CSNB
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 the disorder can be inherited in an autosomal dominant, autosomal recessive, or X-linked recessive manner.
The micro-array based test has been developed for screening mutations in three forms of CSNB: autosomal dominant, autosomal recessive and X-linked CSNB. The test can be used to screen 159 mutations in 11 genes: RHO, PDE6B, GNAT1, CABP4, GRM6, SAG, NYX, CACNA1F, CACNA2D, GRK1 and TRPM1.
Genetic testing helps to confirm the diagnosis and provides supportive information for genetic counseling. The test is available both with genotyping service (includes genotyping, electronical copy of the results report) and diagnostic package service (includes DNA extraction, genotyping, additional validation of the APEX-based analysis findings by dideoxy sequencing, interpretation, hard copy of the results report).
View ordering information
Congenital Stationary Night Blindness – read more.
For further information:
Genotyping microarray for CSNB-associated genes
Zeitz C, Labs S, Lorenz B, Forster U, Üksti J, Kroes HY, De Baere E, Leroy BP, Cremers FPM, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer J, Hüffmeier U, Veselina Moskova-Doumanova, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet DF, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W
Investigative Ophthalmology and Visual Science, July 2, 2009
(Invest. Ophthalmol. Vis. Sci..2009; 0: iovs.09-3548v1)
Panel of ophthalmogenetic tests
Panel of genetic eye disease tests
- Stargardt Disease, Cone-Rod Dystrophy – ABCA4
- Autosomal Dominant Retinitis Pigmentosa – AD RP
- Autosomal Recessive Retinitis Pigmentosa – AR RP
- X-Linked Retinitis Pigmentosa – XL-RP
- Leber Congenital Amaurosis – LCA
- Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy
- Vitelliform Macular Dystrophy – VMD
- Congenital Stationary Night Blindness – CSNB
- Corneal Dystrophy
- Autosomal Dominant Optic Atrophy – ADOA
- Age-Related Macular Degeneration – AMD
- Usher Syndrome
Asper Ophthalmics
Asper Ophthalmics
Asper Ophthalmics is a brand name of portfolio of tests targeting ocular disorders.
Collection of our tests is directed to wide variety of pathological conditions including retinal disorders, corneal dystrophies, age related ophthalmic conditions etc. Most of analyses are performed using robust APEX-based approach that enables fast, reliable, simultaneous and cost-effective detection of hundreds of disease related mutations and alterations in multiple genes.
Our portfolio comprises unique up-to-date tests for implementation to individuals from different populations all over the world. Elaboration and development of tests is carried out by our experienced scientific staff in collaboration with international outstanding scientists.
- Age-Related Macular Degeneration – AMD
- Autosomal Dominant Optic Atrophy – ADOA
- Autosomal Dominant Retinitis Pigmentosa – AD RP
- Autosomal Recessive Retinitis Pigmentosa – AR RP
- Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy
- Congenital Stationary Night Blindness – CSNB
- Corneal Dystrophy
- Leber Congenital Amaurosis – LCA
- Leber Hereditary Optic Neuropathy – LHON NEW
- Stargardt Disease, Cone-Rod Dystrophy – ABCA4
- Usher Syndrome
- Vitelliform Macular Dystrophy – VMD
- X-Linked Retinitis Pigmentosa – XL-RP
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