Klinische FragestellungMukopolysaccharidosen, Differentialdiagnose II

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Mukopolysaccharidosen mit 20 kuratierten Genen je nach klinischer Verdachtsdiagnose

MP0401

Anzahl Loci

Loci-Typ	Anzahl
Gen	22

Akkreditierte Untersuchung

Untersuchte Sequenzlänge

23,2 kb (Core-/Core-canditate-Gene)
45,9 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Untersuchungsmaterial

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Locipanel

Gen

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
ARSB	1602	611542	NM_000046.5	AR
GALNS	1569	612222	NM_000512.5	AR
GLB1	2034	611458	NM_000404.4	AR
GNPTAB	3771	607840	NM_024312.5	AR
GNS	1659	607664	NM_002076.4	AR
GUSB	1956	611499	NM_000181.4	AR
HGSNAT	1908	610453	NM_152419.3	AR
HYAL1	1308	607071	NM_153281.2	AR
IDS	1653	300823	NM_000202.8	XLR
IDUA	1962	252800	NM_000203.5	AR
NAGLU	2232	609701	NM_000263.4	AR
SGSH	1509	605270	NM_000199.5	AR
COL2A1	4464	120140	NM_001844.5	AD
GLA	1290	300644	NM_000169.3	XL
GNPTG	918	607838	NM_032520.5	AR
MAN2B1	3036	609458	NM_000528.4	AR
NEU1	1248	608272	NM_000434.4	AR
PSAP	1575	176801	NM_002778.4	AR
RAI1	5721	607642	NM_030665.4	AD
SMARCAL1	2865	606622	NM_001127207.2	AR
SUMF1	1125	607939	NM_182760.4	AR
TRAPPC2	423	300202	NM_001011658.4	XLR

Infos zur Erkrankung

Klinischer Kommentar

illness_ClinicalComment_MP0401

Synonyme

Allelic: Charcot-Marie-Tooth disease, axonal, type 2V (NAGLU)
Allelic: Lewy body dementia, susceptibility to (GBA)
Allelic: Parkinson disease 24, AD, susceptibility to (PSAP)
Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
Allelic: Retinitis pigmentosa 73 (HGSNAT)
Combined SAP deficiency (PSAP)
Fabry disease (GLA)
Fabry disease, cardiac variant (GLA)
GM1-gangliosidosis type I-III (GLB1)
Gaucher disease, atypical (PSAP)
Gaucher disease, perinatal lethal (GBA)
Gaucher disease, type I, II, III, IIIC (GBA)
Krabbe disease, atypical (PSAP)
Mannosidosis, alpha-, types I + II (MAN2B1)
Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
Mucolipidosis II alpha/beta (GNPTAB)
Mucolipidosis III alpha/beta (GNPTAB)
Mucolipidosis IV (MCOLN1)
Mucopolysaccharidosis type II, Hunter syndrome (IDS)
Mucopolysaccharidosis type IIIA, Sanfilippo A (SGSH)
Mucopolysaccharidosis type IIIB, Sanfilippo B (NAGLU)
Mucopolysaccharidosis type IIIC, Sanfilippo C (HGSNAT)
Mucopolysaccharidosis type IIID, Sanfilippo syndrome D (GNS)
Mucopolysaccharidosis type IVA (GALNS)
Mucopolysaccharidosis type IVB, Morquio (GLB1)
Mucopolysaccharidosis type IX (HYAL1)
Mucopolysaccharidosis type Ih/s, Hurler-Scheie syndrome+ Is, Scheie syndrome (IDUA)
Mucopolysaccharidosis type VI, Maroteaux-Lamy (ARSB)
Mucopolysaccharidosis type VII, Sly syndrome (GUSB)
Mucopolysaccharidosis type X (ARSK)
Mucopolysaccharidosis-plus syndrome (VPS33A)
Multiple sulfatase deficiency (SUMF1)
Osteoarthritis with mild chondrodysplasia (COL2A1)
Schimke immunoosseous dysplasia (SMARCAL1)
Sialidosis, type I (NEU1)
Sialidosis, type II (NEU1)
Smith-Magenis syndrome (RAI1)
Spondyloepiphyseal dysplasia tarda (TRAPPC2)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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