IllnessSkeletal dysplasia, recessive; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Skeletal dysplasia, recessive, according to the clinical signs as evaluated according to the HPO terms supplied.

SP0014

Number of genes

1 Accredited laboratory test

Examined sequence length

1.000,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

auf Anfrage

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
TecExom	999999	No OMIM-Gs linked		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