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ErkrankungMuskeldystrophie, kongenitale; erweiterte Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Muskeldystrophie, kongenitale, erweitert, mit 18 Leitlinien-kuratierten und insgesamt 72 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
MP9928
Anzahl Gene
43 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
47,5 kb (Core-/Basis-Gene)
109,2 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
B3GALNT21503AR
B4GAT11248AR
COL6A13087AD und/oder AR
COL6A23060AD und/oder AR
COL6A39534AD und/oder AR
CRPPA1356AR
DAG12688AR
FKRP1488AR
FKTN1386AR
GMPPB1164AR
LAMA29369AR
LARGE12271AR
POMGNT11983AR
POMK1053AR
POMT12244AR
POMT22253AR
SELENON1773AD und/oder AR
ACTA11134AD und/oder AR
BIN11782AR
CCDC781317AD
CFL2501AR
CHAT2247AR
CHRNE1482AD und/oder AR
COLQ1368AR
DNM22613AD und/oder AR und/oder SMu
DOK71515AR
GFPT12046AR
KBTBD131377AD
KLHL401866AR
KLHL411821AR
LMOD31683AR
MAP3K202804AR
MTM11812XLR
MTMR141617AD
POMGNT21743AR
RAPSN1239AR
RXYLT11355AR
RYR115117AD und/oder AR
SMN1885AR
SPEG9804AR
TNNT1837AR
TPM2855AD
TPM3858AD und/oder AR

Infos zur Erkrankung

Klinischer Kommentar

illness_ClinicalComment_MP9928

 

Synonyme
  • Alias: Congenital muscular dystrophy due to laminin alpha2 deficiency (LAMA2)
  • Alias: Congenital muscular dystrophy type 1A (LAMA2)
  • Alias: Laminin subunit alpha 2-related congenital muscular dystrophy (LAMA2)
  • Alias: Merosin-negative congenital muscular dystrophy (LAMA2)
  • Alias: Muskeldystrophie, kongenitale, Merosin-negativ (LAMA2)
  • Alias: Muskeldystrophie, kongenitale, durch Laminin-alpha 2-Mangel (LAMA2)
  • Alias: Santavuori congenital muscular dystrophy (POMGNT1)
  • Alias: Walker-Warburg syndrome (POMT1)
  • Allelic: Becker muscular dystrophy (DMD)
  • Allelic: Cardiomyopathy, dilated, 1A (LMNA)
  • Allelic: Cardiomyopathy, dilated, 1X (FKTN)
  • Allelic: Cardiomyopathy, dilated, 3B (DMD)
  • Allelic: Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
  • Allelic: Charcot-Marie-Tooth disease, dominant intermediate B (DNM2)
  • Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
  • Allelic: Dystonia 27 (COL6A3)
  • Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
  • Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
  • Allelic: Emery-Dreifuss muscular dystrophy 6, XL (FHL1)
  • Allelic: Epidermolysis bullosa simplex 5A, Ogna type (PLEC)
  • Allelic: Epidermolysis bullosa simplex 5C, with pyloric atresia (PLEC)
  • Allelic: Epidermolysis bullosa simplex 5D, generalized intermediate, AR (PLEC)
  • Allelic: Heart-hand syndrome, Slovenian type (LMNA)
  • Allelic: Hutchinson-Gilford progeria (LMNA)
  • Allelic: King-Denborough syndrome (RYR1)
  • Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
  • Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
  • Allelic: Malouf syndrome (LMNA)
  • Allelic: Mandibuloacral dysplasia (LMNA)
  • Allelic: Minicore myopathy with external ophthalmoplegia (RYR1)
  • Allelic: Muscular dystrophy, limb-girdle, AR 23 (LAMA2)
  • Allelic: Muscular dystrophy, rigid spine, 1 (SELENON)
  • Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 1 (POMT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 14 (GMPPB)
  • Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 2 (POMT2)
  • Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 3 (POMGNT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 4 (FKTN)
  • Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 5 (FKRP)
  • Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 7 (CRPPA)
  • Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 9 (DAG1)
  • Allelic: Myopathy, scapulohumeroperoneal (ACTA1)
  • Allelic: Myosclerosis, congenital (COL6A2)
  • Allelic: Reducing body myopathy, XL 1b, with late childhood or adult onset (FHL1)
  • Allelic: Restrictive dermopathy, lethal (LMNA)
  • Allelic: Retinitis pigmentosa 76 (POMGNT1)
  • Allelic: Scapuloperoneal myopathy, XLD (FHL1)
  • Allelic: Spinocerebellar ataxia, AR 8 (SYNE1)
  • Allelic: Split-foot malformation with mesoaxial polydactyly (MAP3K20)
  • Allelic:Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
  • Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
  • Arthrogryposis multiplex congenita 6 (NEB)
  • Arthrogryposis, distal, type 1A + 2B4 (TPM2)
  • Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
  • Bethlem myopathy 2 (COL12A1)
  • CAP myopathy 1 (TPM3)
  • CAP myopathy 2 (TPM2)
  • Carey-Fineman-Ziter syndrome [cong. myopathy +Moebius- + Robin sequences] (MYMK)
  • Central core disease (RYR1)
  • Centronuclear myopathy 1 (DNM2)
  • Centronuclear myopathy 2 (BIN1)
  • Centronuclear myopathy 4 (CCDC78)
  • Centronuclear myopathy 5 (SPEG)
  • Centronuclear myopathy 6 with fiber-type disproportion (MAP3K20)
  • Centronuclear myopathy, autosomal, modifier of (MTMR14)
  • Congenital disorder of glycosylation, type Im (DOLK)
  • Congenital disorder of glycosylation, type Iu (DPM2)
  • Duchenne muscular dystrophy (DMD)
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy (PLEC)
  • Fetal akinesia deformation sequence 2 (RAPSN)
  • Fetal akinesia deformation sequence 3 (DOK7)
  • Lethal congenital contracture syndrome 5 (DNM2)
  • Marinesco-Sjogren syndrome [cong. cataracts, myopathy, hypotonia, ID, hyperg. hypogonadism] (SIL1)
  • Muscular dystrophy, congenital (LMNA)
  • Muscular dystrophy, congenital, due to ITGA7 deficiency (ITGA7)
  • Muscular dystrophy, congenital, megaconial type (CHKB)
  • Muscular dystrophy, congenital, merosin deficient or partially deficient (LAMA2)
  • Muscular dystrophy, congenital, with cataracts + intellectual disability (INPP5K)
  • Muscular dystrophy, limb-girdle, AR 17 (PLEC)
  • Muscular dystrophy, limb-girdle, AR 18 (TRAPPC11)
  • Muscular dystrophy, rigid spine, 1 (SELENON)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies, type A, 10 (RXYLT1)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 1 (POMT1)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 11 (B3GALNT2)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 13 (B4GAT1)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 14 (GMPPB)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 2 (POMT2)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 4 (FKTN)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 6 (LARGE1)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 7 (CRPPA)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 9 (DAG1)
  • Muscular dystrophy-dystroglycanopathy [cong. with mental retard.], type B, 1 (POMT1)
  • Muscular dystrophy-dystroglycanopathy [cong. with mental retard.], type B, 2 (POMT2)
  • Muscular dystrophy-dystroglycanopathy [cong. with mental retard.], type B, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy [cong. with mental retard.], type B, 6 (LARGE1)
  • Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 14 (GMPPB)
  • Muscular dystrophy-dystroglycanopathy [cong. with/-out mental retard.], type B, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy [cong. without mental retard.], type B, 4 (FKTN)
  • Myasthenia, congenital, 12, with tubular aggregates (GFPT1)
  • Myasthenic syndrome, congenital, 10 ((DOK7)
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (RAPSN)
  • Myasthenic syndrome, congenital, 4A, slow-channel (CHRNE)
  • Myasthenic syndrome, congenital, 4B, fast-channel (CHRNE)
  • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CHRNE)
  • Myasthenic syndrome, congenital, 5 (COLQ)
  • Myasthenic syndrome, congenital, 6, presynaptic (CHAT)
  • Myopathy with extrapyramidal signs (MICU1)
  • Myopathy, XL, with postural muscle atrophy (FHL1)
  • Myopathy, actin, congenital, with cores (ACTA1)
  • Myopathy, actin, congenital, with excess of thin myofilaments (ACTA1)
  • Myopathy, congenital, with fiber-type disproportion (SELENON)
  • Myopathy, congenital, with fiber-type disproportion (TPM3)
  • Myopathy, congenital, with fiber-type disproportion 1 (ACTA1)
  • Myopathy, mitochondrial, + ataxia (MSTO1)
  • Myotonic dystrophy 1 (DMPK_CTG)
  • Myotubular myopathy, XL (MTM1)
  • Nemaline myopathy 1, AD/AR (TPM3)
  • Nemaline myopathy 10 (LMOD3)
  • Nemaline myopathy 2, AR (NEB)
  • Nemaline myopathy 3, AD/AR (ACTA1)
  • Nemaline myopathy 4, AD (TPM2)
  • Nemaline myopathy 5, Amish type (TNNT1)
  • Nemaline myopathy 6, AD (KBTBD13)
  • Nemaline myopathy 7, AR (CFL2)
  • Nemaline myopathy 8, AR (KLHL40)
  • Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
  • Reducing body myopathy, XL 1a, severe, infantile or early childhood onset (FHL1)
  • Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
  • Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)
  • Ullrich congenital muscular dystrophy 2 (COL12A1)
  • Uruguay faciocardiomusculoskeletal syndrome (FHL1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder SMu
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G71.2

Bioinformatik und klinische Interpretation

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