Deutsch
IllnessSkelettdysplasie, rezessiv; Differentialdiagnose
Summary
Short information
Comprehensive differential diagnostic panel for Skeletal dysplasia, recessive comprising 10 or altogether 198 curated genes according to the clinical signs
ID
SP0014
Number of loci
| Loci type | Count |
|---|---|
| Gen | 1 |
Examined sequence length
1.000,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
auf Anfrage
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Loci panel
Gen
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| TecExom | 999999 |
| n.k. |
Informations about the disease
Clinical Comment
Large group of diseases - no ORPHA#s
Synonyms
- Alias: Skeletal dysplasia
- Achondrogenesis Ib (SLC26A2)
- Antley-Bixler syndrome with genital anomalies + disordered steroidogenesis (POR)
- Atelosteogenesis, type II (SLC26A2)
- Bruck syndrome 1 (FKBP10)
- Bruck syndrome 2 (PLOD2)
- Chondrodysplasia punctata, XLR (ARSE)
- De la Chapelle dysplasia (SLC26A2)
- Diastrophic dysplasia (SLC26A2)
- Diastrophic dysplasia, broad bone-platyspondylic variant (SLC26A2)
- Disordered steroidogenesis due to cytochrome P450 oxidoreductase (POR)
- Epiphyseal dysplasia, multiple, 4 (SLC26A2)
- Osteogenesis imperfecta, type VII (CRTAP)
- Osteogenesis imperfecta, type XI (FKBP10)
- Rhizomelic chondrodysplasia punctata, type 2 (GNPAT)
- Schneckenbecken dysplasia (SLC35D1)
- Short-rib thoracic dysplasia 11 with/-out polydactyly (DYNC2I2)
- Spondylocostal dysostosis 1, AR (DLL3)
Heredity, heredity patterns etc.
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined