Klinische FragestellungLaing distale Myopathie; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Laing distale Myopathie mit 1 Leitlinien-kuratierten core-Gen, 14 weiteren Leitlinien-kuratierten sowie zusammen genommen 20 kuratierten Genen gemäß klinischer Verdachtsdiagnose

LP7117

Anzahl Gene

16 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

27,3 kb (Core-/Core-canditate-Gene)
55,7 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Material

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Genpanel

Ausgewählte Gene

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
ANO5	2742	608662	NM_213599.3	AR
DYSF	6243	603009	NM_003494.4	AR
FLNC	8178	102565	NM_001458.5	AD
GNE	2262	603824	NM_001128227.3	AR
LDB3	852	605906	NM_001080116.1	AD
MYH7	5808	160760	NM_000257.4	AD
TIA1	1161	603518	NM_022173.4	AD, AR
BAG3	1728	603883	NM_004281.4	AD
CRYAB	528	123590	NM_001885.3	AD
DES	1413	125660	NM_001927.4	AD, AR
DNM2	2613	602378	NM_001005360.3	AD
KY	2189	605739	NM_178554.6	AR
MTM1	1812	300415	NM_000252.3	XLR
MYOT	1497	604103	NM_006790.3	AD
PYROXD1	1553	617220	NM_024854.5	AR
RYR1	15117	180901	NM_000540.3	AD

Infos zur Erkrankung

Synonyme

Alias: Myopathy, distal, 1
Alias: Myopathy, distal, early-onset, AD
Alias: Myopathy, late distal hereditary
Allelic: Amyotrophic lateral sclerosis 21 (MATR3)
Allelic: Arthrogryposis multiplex congenita 6 (NEB)
Allelic: Cardiomyopathy, dilated, 1G (TTN)
Allelic: Cardiomyopathy, dilated, 1S (MYH7)
Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
Allelic: Left ventricular noncompaction 5 (MYH7)
Allelic: Myopathy, myosin storage, AD (MYH7)
Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
Central core disease (RYR1)
Centronuclear myopathy 1 (DNM2)
Distal Myopathy [panelapp green] (MATR3)
Distal myopathy [panelapp] (KLHL9)
Laing distal myopathy (MYH7)
Minicore myopathy with external ophthalmoplegia (RYR1)
Miyoshi muscular dystrophy 1 (DYSF)
Miyoshi muscular dystrophy 3 (ANO5)
Muscular dystrophy, limb-girdle, AR 10 (TTN)
Myopathy, distal, 4 (FLNC)
Myopathy, distal, with anterior tibial onset (DYSF)
Myopathy, myofibrillar, 1 (DES)
Myopathy, myofibrillar, 2 (CRYAB)
Myopathy, myofibrillar, 3 (MYOT)
Myopathy, myofibrillar, 4 (LDB3)
Myopathy, myofibrillar, 5 (FLNC)
Myopathy, myofibrillar, 6 (BAG3)
Myopathy, myofibrillar, 7 (KY)
Myopathy, myofibrillar, 8 (PYROXD1)
Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
Myopathy, spheroid body (MYOT)
Myotubular myopathy, XL (MTM1)
Nemaline myopathy 2, AR (NEB)
Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
Nonaka myopathy (GNE)
Salih myopathy (TTN)
Tibial muscular dystrophy, tardive (TTN)
Welander distal myopathy (TIA1)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

G72.8-

Bioinformatik und klinische Interpretation

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