IllnessOsteochondromas, multiple; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Osteochondromas, multiple, containing 2 core candidate genes and altogether 7 curated genes according to the clinical signs

OP9448

Number of genes

3 Accredited laboratory test

Examined sequence length

4,4 kb (Core-/Core-canditate-Genes)
6,2 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
EXT1	2241	608177	NM_000127.3	AD, Sus
EXT2	2157	608210	NM_207122.2	AD, Sus
PTPN11	1782	176876	NM_002834.5	AD

Informations about the disease

Synonyms

Alias: Bessel-Hagen-Krankheit
Alias: Diaphyseal Aclasis
Alias: Hereditary Multiple Exostoses
Alias: Multiple Cartilaginous Exostoses
Alias: Multiple kartilaginären Exostosen
DD: Potocki-Shaffer syndrome, proximal 11p deletion (contiguous deletion ALX4-EXT2-PHF21A)
DD: Trichorhinophalangeal syndrome II, Langer-Giedion syndrome (contig. deletion EXT1-RAD21-TRPS1)
Allelic: Craniosynostosis 5, susceptibility to (ALX4)
Allelic: LEOPARD syndrome 1 (PTPN11)
Allelic: Leukemia, juvenile myelomonocytic, somatic (PTPN11)
Allelic: Noonan syndrome 1 (PTPN11)
Allelic: Seizures, scoliosis + macrocephaly syndrome (EXT2)
Chondrosarcoma (EXT1)
Cornelia de Lange syndrome 4 (RAD21)
Exostoses, multiple, type 1 (EXT1)
Exostoses, multiple, type 2 (EXT2)
Frontonasal dysplasia 2 (ALX4)
Intellectual developmental disorder, behav. abnormal, craniofacial dysmorphism +/- seizures (PHF21A)
Metachondromatosis (PTPN11)
Mungan syndrome (RAD21)
Parietal foramina 2 (ALX4)
Trichorhinophalangeal syndrome, type I + III (TRPS1)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined