IllnessMucolipidoses, differential diagnoses

Summary

Short information

Comprehensive differential diagnostic panel for Mucolipidoses comprising 4 core candidate genes and altogether 22 curated genes according to the clinical signs

MP0100

Number of genes

6 Accredited laboratory test

Examined sequence length

7,7 kb (Core-/Core-canditate-Genes)
13,3 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
GNPTAB	3771	607840	NM_024312.5	AR
GNPTG	918	607838	NM_032520.5	AR
MCOLN1	1743	605248	NM_020533.3	AR
NEU1	1248	608272	NM_000434.4	AR
COL2A1	4464	120140	NM_001844.5	AD
SUMF1	1125	607939	NM_182760.4	AR

Informations about the disease

Clinical Comment

Group of diseases

Synonyms

Alias: Achondrogenesis, Langer-Saldino type (COL2A1)
Alias: Hypochondrogenesis (COL2A1)
Alias: Infantile sialidosis, formerly called sialidosis II or mucolipidosis I
Alias: Mucolipidosis III, complementation group C
Alias: Sialolipidosis, type I + II
Allelic: Avascular necrosis of the femoral head (COL2A1)
Allelic: Carpal tunnel syndrome 2 (COMP)
Allelic: Intervertebral disc disease, susceptibility to (COL9A3)
Allelic: Osteoarthritis susceptibility 2 (MATN)
Allelic: Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
Achondrogenesis Ib (SLC26A2)
Achondrogenesis type II or hypochondrogenesis (COL2A1)
Atelosteogenesis, type II (SLC26A2)
Czech dysplasia (COL2A1)
De la Chapelle dysplasia (SLC26A2)
Diastrophic dysplasia (SLC26A2)
Diastrophic dysplasia, broad bone-platyspondylic variant (SLC26A2)
Epiphyseal dysplasia, multiple, 1 (COMP)
Epiphyseal dysplasia, multiple, 2 (COL9A2)
Epiphyseal dysplasia, multiple, 3, with/-out myopathy (COL9A3)
Epiphyseal dysplasia, multiple, 4 (SLC26A2)
Epiphyseal dysplasia, multiple, 5 (MATN)
Epiphyseal dysplasia, multiple, 6 (COL9A1)
Epiphyseal dysplasia, multiple, myopia + deafness (COL2A1)
GM1-gangliosidosis, type I, II, III (GLB1)
Galactosialidosis (CTSA)
Kniest dysplasia (COL2A1)
Legg-Calve-Perthes disease (COL2A1)
Mannosidosis, alpha-, types I + II (MAN2B1)
Mucolipidosis II alpha/beta + III alpha/beta (GNPTAB)
Mucolipidosis III gamma (GNPTG)
Mucolipidosis III, [Iranian] variant form (GNPTG)
Mucolipidosis IV (MCOLN1)
Mucopolysaccharidosis II (IDS)
Mucopolysaccharidosis IVA (GALNS)
Mucopolysaccharidosis IVB, Morquio (GLB1)
Mucopolysaccharidosis Ih (IDUA)
Mucopolysaccharidosis Ih/s (IDUA)
Mucopolysaccharidosis Is (IDUA)
Mucopolysaccharidosis VI, Maroteaux-Lamy (ARSB)
Mucopolysaccharidosis VII (GUSB)
Multiple sulfatase deficiency (SUMF1)
Osteoarthritis with mild chondrodysplasia (COL2A1)
Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
Progressive pseudorheumatoid dysplasia (CCN6)
Pseudoachondroplasia (COMP)
SED congenita (COL2A1)
SMED Strudwick type (COL2A1)
Salla disease (SLC17A5)
Sialic acid storage disorder, infantile (SLC17A5)
Sialidosis, type I + II (NEU1)
Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MATN)
Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
Spondyloperipheral dysplasia (COL2A1)
Stickler syndrome, type I (COL2A1)
Stickler syndrome, type I, nonsyndromic ocular (COL2A1)
Stickler syndrome, type IV (COL9A1)
Stickler syndrome, type V (COL9A2)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined

Laboratory requirement

Die in grün gezeigten Gene sind kuratiert und werden als Gen-Panel untersucht. Eine Erweiterung des Panels (blau gezeigte Gene, jeweils ebenfalls kuratiert) kann auf Anfrage erfolgen. Sofern unter "Erweitertes Panel" ein Minuszeichen angezeigt wird, sind nur Core-/Basis-Gene verfügbar.
Für die Anforderung einer genetischen Untersuchung senden Sie uns bitte die Krankheits-ID auf einem Überweisungsschein. Bitte die Material-Angabe beachten.
Für privat versicherte Patienten empfehlen wir einen Antrag auf Kostenübernahme bei der Krankenversicherung.
Die Untersuchung wird auch für Selbstzahler angeboten.