Klinische FragestellungMultiple epiphysäre Dysplasie, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Multiple epiphyseale Dysplasie mit 5 "core candidate"-Genen bzw. zusammen genommen 11 kuratierten Genen gemäß klinischer Verdachtsdiagnose

MP5544

Anzahl Gene

11 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

10,1 kb (Core-/Core-canditate-Gene)
28,6 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Untersuchungsmaterial

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Genpanel

Ausgewählte Gene

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
COL9A2	2070	120260	NM_001852.4	AD
COL9A3	2055	120270	NM_001853.4	AD
COMP	2274	600310	NM_000095.3	AD
MATN3	1461	602109	NM_002381.5	AD, AR
SLC26A2	2220	606718	NM_000112.4	AR
CANT1	1206	613165	NM_138793.4	AR
CHST3	1440	603799	NM_004273.5	AR
COL11A2	5211	120290	NM_080680.3	AR
COL2A1	4464	120140	NM_001844.5	AD
COL9A1	2766	120210	NM_001851.6	AD
EIF2AK3	3351	604032	NM_004836.7	AR

Infos zur Erkrankung

Synonyme

Alias: Polyepiphyseal dysplasia
Allelic: Deafness, AR 53 (COL11A2)
Allelic: Deafness, Ad 13 (COL11A2)
Allelic: Desbuquois dysplasia 1 (CANT1)
Allelic: Osteoarthritis susceptibility 2 (MATN3)
Allelic: Stickler sydrome, type I, nonsyndromic ocular (COL2A1)
Allelic: Stickler syndrome, type I (COL2A1)
Allelic: Stickler syndrome, type IV (COL9A1)
Allelic: Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
Achondrogenesis, type II or hypochondrogenesis (COL2A1)
Alias: Multiple epiphysäre Dysplasie
Avascular necrosis of the femoral head (COL2A1)
Czech dysplasia (COL2A1)
Epiphyseal dysplasia, multiple, 5 (MATN3)
Epiphyseal dysplasia, multiple, 6 (COL9A1)
Epiphyseal dysplasia, multiple, 7 (CANT1)
Epiphyseal dysplasia, multiple, with myopia + deafness (COL2A1)
Fibrochondrogenesis 2 (COL11A2)
Kniest dysplasia (COL2A1)
Legg-Calve-Perthes disease (COL2A1)
Osteoarthritis with mild chondrodysplasia (COL2A1)
Otospondylomegaepiphyseal dysplasia, AD (COL11A2)
Otospondylomegaepiphyseal dysplasia, AR (COL11A2)
Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
Spondyloepimetaphyseal dysplasia congenita (COL2A1)
Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MATN3)
Spondyloepimetaphyseal dysplasia, Strudwick type (COL2A1)
Spondyloepiphyseal dysplasia tarda (TRAPPC2)
Spondyloepiphyseal dysplasia with congenital joint dislocations (CHST3)
Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
Spondyloperipheral dysplasia (COL2A1)
Wolcott-Rallison syndrome (EIF2AK3)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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