English
Klinische FragestellungPhotosensitivität, kutane; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Photosensitivität, kutane, mit 13 "core candidate"-Genen sowie insgesamt 4 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
PP9911
Anzahl Loci
| Locus-Typ | Anzahl |
|---|---|
| Gen | 14 |
Untersuchte Sequenzlänge
27,3 kb (Core-/Core-canditate-Gene)
28,4 kb (Erweitertes Panel: inkl. additional genes)
28,4 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Loci
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| ALAD | 993 | NM_000031.6 | AR | |
| ALAS2 | 1764 | NM_000032.5 | XL | |
| ANAPC1 | 5835 | NM_022662.4 | AR | |
| CPOX | 1365 | NM_000097.7 | AD, AR | |
| ERCC6 | 4482 | NM_000124.4 | AR | |
| ERCC8 | 1191 | NM_000082.4 | AR | |
| FECH | 1272 | NM_000140.5 | AR | |
| GATA1 | 1242 | NM_002049.4 | XLR | |
| PPOX | 1434 | NM_000309.5 | AD, AR | |
| RECQL4 | 3628 | NM_004260.4 | AR | |
| UROD | 1104 | NM_000374.5 | AD | |
| UROS | 798 | NM_000375.3 | AR | |
| UVSSA | 2130 | NM_020894.4 | AR | |
| HMBS | 1086 | NM_000190.4 | AD |
Infos zur Erkrankung
Synonyme
- Alais: Genetic skin photosensitivity
- Alias: Photodermatose
- Alias: Photogenodermatose
- Alias: Photosensitivität der Haut, genetisch bedingte
- Alias: UV-sensitive syndrome
- Allelic: Anemia, sideroblastic, 1 (ALAS2)
- Allelic: Baller-Gerold syndrome (RECQL4)
- Allelic: Cerebrooculofacioskeletal syndrome 1 (ERCC6)
- Allelic: Lead poisoning, susceptibility to (ALAD)
- Allelic: Leukemia, megakaryoblastic, with/-out Down syndrome, somatic (GATA1)
- Allelic: Lung cancer, susceptibility to (ERCC6)
- Allelic: Macular degeneration, age-related, susceptibility to, 5 (ERCC6)
- Allelic: Premature ovarian failure 11 (ERCC6)
- Allelic: RAPADILINO syndrome (RECQL4)
- Allelic: Thrombocytopenia with beta-thalassemia, XL (GATA1)
- Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
- Cockayne syndrome, type A (ERCC8)
- Cockayne syndrome, type B (ERCC6)
- Coproporphyria (CPOX)
- De Sanctis-Cacchione syndrome (ERCC6)
- Harderoporphyria (CPOX)
- Porphyria cutanea tarda (UROD)
- Porphyria variegata (PPOX)
- Porphyria, acute hepatic (ALAD)
- Porphyria, acute intermittent (HMBS)
- Porphyria, acute intermittent, nonerythroid variant (HMBS)
- Porphyria, congenital erythropoietic (UROS)
- Porphyria, hepatoerythropoietic (UROD)
- Protoporphyria, erythropoietic, 1 (FECH)
- Protoporphyria, erythropoietic, XL (ALAS2)
- Rothmund-Thomson syndrome, type 1 (ANAPC1)
- Rothmund-Thomson syndrome, type 2 (RECQL4)
- Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
- UV-sensitive syndrome 1 (ERCC6)
- UV-sensitive syndrome 2 (ERCC8)
- UV-sensitive syndrome 3 (UVSSA)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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