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Aktuell:
Molecular Genetics - Retinal Disorders
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disease
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Phenotype
MIM number |
Symbol
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gene
MIM-Nr. |
localisation
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Retinal Disorders
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Contact: Prof. Dr. Bernhard Weber, Fachhumangenetiker (GfH) ‑‑‑ Phone: +49‑941‑944‑5410 ‑‑‑
e-mail
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Einzel-Genuntersuchungen bei gezielter Fragestellung (akkreditiert nach DIN EN ISO 15189)²
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Achromatopsia
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2q11.2
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8q21.3
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1p13.3
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Adult-onset vitelliform macular dystrophy (AVMD)
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11q12.3
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6p21.1
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Gyrate atrophy
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10q26.13
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autosomal dominant Vitreoretinochoroidopathy (ADVIRC)
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11q12.3
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Bestrophinopathy, autosomal recessive
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11q12.3
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Bietti crystalline corneoretinal dystrophy
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4q35.2
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Choroideremia
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Xq21.2
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Doyne honeycomb retinal dystrophy
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2p16.1
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Fundus albipunctatus
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6p21.1
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12q13.2
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3q22.1
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15q26.1
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Night blindness, congenital stationary, autosomal dominant
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3p21.31
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Night blindness, congenital stationary, X-linked
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Xp11.4
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Leber congenital amaurosis (LCA)
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6q14.1
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Hypotrichosis, congenital, with juvenile macular dystrophy
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16q22.1
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16q22.1
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Macular dystrophy, vitellifom (Best macular dystrophy)
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11q12.3
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6p21.1
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11q12.3
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Norrie disease
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Xp11.3
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Optic atrophy, autosomal dominant
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3q29
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3q29
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Retinitis pigmentosa, X-linked
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Xp11.23
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Xp11.4
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Retinoschisis, X-linked, juvenile
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Xp22.13
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Fundus dystrophy of Sorsby
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22q12.3
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Cone dystrophy with night blindness and supernormal rod responses
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9p24.2
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Modulare Array-Analysen von Gen-Gruppen (nicht akkreditiert)³
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• Untersuchung mit Affymetrix-basiertem Resequenzierarray (RetChip v1.0)
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Module Stargardt disease
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1p22.1
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8q21.3
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6q14.1
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Module cone-rod dystrophy
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1p22.1
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17p13.2
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2q31.3
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8q21.3
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19q13.33
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6p21.1
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17p13.1
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9p24.2
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4p15.32
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6p21.1
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12q13.2
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6q13
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Xp11.4
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14q11.2
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1q22
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Module exudative vitreoretinopathy
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11q14.2
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11q13.2
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Xp11.3
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Module retinitis pigmentosa (includes adRP, arRP, XLRP, LCA, and CSNB)
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1p22.1
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17p13.2
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17q23.1
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12q21.32
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2q31.3
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4p12
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16q21
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1q31.3
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1q31.3
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19q13.33
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19q13.33
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17q25.3
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13q34
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6p21.1
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17p13.1
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7q32.1
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7q32.1
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4q32.1
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2q13
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15q23
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14q11.2
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5q32
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4p16.3
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4p16.3
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17q25.1
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4p15.32
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1q21.2-q21.3
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19q13.42
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17p13.3
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6p21.1
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6p21.1
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14q24.1
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10q23.1
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3q22.1
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3q22.1
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3q22.1
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15q26.1
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15q26.1
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15q26.1
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11q12.3
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8q12.1
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Xp11.23
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7p14.3
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1p31.3-p31.2
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1p31.3-p31.2
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Xp11.4
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Xp11.4
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Xp11.4
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14q11.2
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2q37.1
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2q37.1
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1q22
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14q31.3
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8q12.3
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6p21.31
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6p21.31
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1q41
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• APEX-Chip, Analyse bekannter Mutationen (Asper Biotech, Tartu Estland)
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Usher syndrome
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10q22.1
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3q25.1
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5q14.3
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11q13.5
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10q21.1
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17q25.1
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11p15.1
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1q41
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Bardet-Biedl syndrome (BBS)
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2p13.1
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3q11.2
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11q13.2
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16q12.2
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15q24.1
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2q31.1
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4q27
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12q21.2
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4q27
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20q13.32
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20p12.2
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7p14.3
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14q31.3
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¹
Routinely analysis is performed by sequencing, additional methods are indicated as follows:
FISH
Fluorescence in situ Hybridisation
FI
3 kb-founder-insertion
²
Untersuchung mittels Sanger-Sequenzierung und ggfs. MLPA.
³
Auffällige Sequenzveränderungen bei der Array-Untersuchungen werden mittels Sanger-Sequenzierung (akkreditiert nach DIN EN ISO 15189) überprüft.