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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessArthrogryposis, neuromuscular; differential diagnosis

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Summary

Short information

A curated panel containing 20 or 72 genes for the comprehensive analysis of the known genetically caused neuromuscular forms of arthrogryposis

ID
AP9632
Number of genes
71 Accredited laboratory test
Examined sequence length
67,2 kb (Core-/Core-canditate-Genes)
301,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ASCC11074NM_001198800.3AR
BLTP115018NM_015312.4AR
CHAT2247NM_020549.5AR
CHRNG1554NM_005199.5AR
CHST141131NM_130468.4AR
ECEL12328NM_004826.4AR
MYBPC13516NM_002465.4AD, AR
MYH35823NM_002470.4AD
PIEZO28259NM_022068.4AD, AR
RAPSN1239NM_005055.5AR
RYR115117NM_000540.3AR
SLC5A71743NM_021815.5AR
STAC31095NM_145064.3AR
TNNI2549NM_003282.4AD
TNNT3777NM_006757.4AD
TOR1A999NM_000113.3AD
TPM2855NM_003289.4AD
UBA13177NM_003334.4XLR
ZC4H2675NM_018684.4XL
ACTA11134NM_001100.4AD, AR
ALG31173NM_005787.6AR
B3GALNT21503NM_152490.5AR
B4GAT11248NM_006876.3AR
BICD22568NM_001003800.2AD
CHRNA11374NM_000079.4AD, AR
CHRNB11506NM_000747.3AD, AR
CHRND1554NM_000751.3AD, AR
CHRNE1482NM_000080.4AD, AR
COL12A19192NM_004370.6AD, AR
COL6A13087NM_001848.3AD
COL6A23060NM_001849.4AD, AR
COL6A39534NM_004369.4AR
COLQ1368NM_005677.4AR
CRLF11269NM_004750.5AR
CRPPA1356NM_001101426.4AR
DAG12688NM_004393.6AR
DNM22613NM_001005360.3AR
DOK71515NM_173660.5AR
DPAGT11227NM_001382.4AR
DYNC1H113941NM_001376.5AD
FKRP1488NM_024301.5AR
FKTN1386NM_001079802.2AR
GMPPB1164NM_013334.4AR
KLHL401866NM_152393.4AR
KLHL71761NM_001031710.3AR
LAMA29369NM_000426.4AR
LARGE12271NM_004737.7AR
LGI41614NM_139284.3AR
LMOD31683NM_198271.5AR
MTM11812NM_000252.3XLR
MUSK2610NM_005592.4AR
MYH25826NM_017534.6AD
MYH75808NM_000257.4AD, AR
MYH85814NM_002472.3AD
MYL1585NM_079420.3AR
MYMK671NM_001080483.3AR
ORAI1912NM_032790.3AD
POMGNT11983NM_017739.4AR
POMK1053NM_032237.5AR
POMT22253NM_013382.7AR
RXYLT11355NM_014254.3AR
SCN4A5511NM_000334.4AR
SELENON1773NM_020451.3AR
SMN1885NM_000344.4AR
STIM12058NM_003156.4AD
TNNT1837NM_003283.6AR
TOR1AIP11755NM_001267578.2AR
TPM3858NM_152263.4AD, AR
TRPV42616NM_021625.5AD
TTN100272NM_001267550.2AR
VAMP1357NM_014231.5AR

Informations about the disease

Clinical Comment

Group of diseases: neuromuscular diseases are a common cause of arthrogryposis + the most common cause of severe arthrogryposis

 

Synonyms
  • Allelic: Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
  • Allelic: Bethlem myopathy 2 (COL12A1)
  • Allelic: CAP myopathy 1 (TPM3)
  • Allelic: CAP myopathy 2 (TPM2)
  • Allelic: Cardiomyopathy, dilated, 1S (MYH7)
  • Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
  • Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
  • Allelic: Central core disease (RYR1)
  • Allelic: Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
  • Allelic: Charcot-Marie-Tooth disease, dominant intermediate B (DNM2)
  • Allelic: Congenital disorder of glycosylation, type Id (ALG3)
  • Allelic: Congenital disorder of glycosylation, type Ij (DPAGT1)
  • Allelic: Congenital myopathy (TPM2)
  • Allelic: Dystonia 27 (COL6A3)
  • Allelic: Dystonia-1, modifier of (TOR1A)
  • Allelic: Dystonia-1, torsion (TOR1A)
  • Allelic: Hyperkalemic periodic paralysis, type 2 (SCN4A)
  • Allelic: Hypokalemic periodic paralysis, type 2 (SCN4A)
  • Allelic: Immunodeficiency 10 (STIM1)
  • Allelic: Immunodeficiency 9 (ORAI1)
  • Allelic: King-Denborough syndrome (RYR1)
  • Allelic: Laing distal myopathy (MYH7)
  • Allelic: Left ventricular noncompaction 5 (MYH7)
  • Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
  • Allelic: Mental retardation, AD 13 (DYNC1H1)
  • Allelic: Minicore myopathy with external ophthalmoplegia (RYR1)
  • Allelic: Musc. dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (GMPPB)
  • Allelic: Musc. dystrophy-dystroglycanopathy (limb-girdle), type C, 9 (DAG1)
  • Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 14 (GMPPB)
  • Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 9 (DAG1)
  • Allelic: Musc. dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 14 (GMPPB)
  • Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
  • Allelic: Myasthenic syndrome, cong., 10 (DOK7)
  • Allelic: Myasthenic syndrome, cong., 11, ass. with acetylcholine receptor deficiency (RAPSN)
  • Allelic: Myasthenic syndrome, cong., 13, with tubular aggregates (DPAGT1)
  • Allelic: Myasthenic syndrome, cong., 16 (SCN4A)
  • Allelic: Myasthenic syndrome, cong., 1A, slow-channel (CHRNA1)
  • Allelic: Myasthenic syndrome, cong., 1B, fast-channel (CHRNA1)
  • Allelic: Myasthenic syndrome, cong., 20, presynaptic (SLC5A7)
  • Allelic: Myasthenic syndrome, cong., 25 (VAMP1)
  • Allelic: Myasthenic syndrome, cong., 2C, ass. with acetylcholine receptor deficiency (CHRNB1)
  • Allelic: Myasthenic syndrome, cong., 3B, fast-channel (CHRND)
  • Allelic: Myasthenic syndrome, cong., 3C, ass. with acetylcholine receptor deficiency (CHRND)
  • Allelic: Myasthenic syndrome, cong., 4A, slow-channel (CHRNE)
  • Allelic: Myasthenic syndrome, cong., 4B, fast-channel (CHRNE)
  • Allelic: Myasthenic syndrome, cong., 4C, ass. with acetylcholine receptor deficiency (CHRNE)
  • Allelic: Myasthenic syndrome, cong., 5 (COLQ)
  • Allelic: Myasthenic syndrome, cong., 6, presynaptic (CHAT)
  • Allelic: Myasthenic syndrome, cong., 9, ass. with acetylcholine receptor deficiency (MUSK)
  • Allelic: Myasthenic syndrome, congenital, 25 (VAMP1)
  • Allelic: Myopathy, actin, congenital, with cores (ACTA1)
  • Allelic: Myopathy, actin, congenital, with excess of thin myofilaments (ACTA1)
  • Allelic: Myopathy, congenital, Baily-Bloch (STAC3)
  • Allelic: Myopathy, congenital, with fast-twitch (type II) fiber atrophy (MYL1)
  • Allelic: Myopathy, congenital, with fiber-type disproportion (TPM3)
  • Allelic: Myopathy, congenital, with fiber-type disproportion 1 (ACTA1)
  • Allelic: Myopathy, congenital, with tremor (MYBPC1)
  • Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
  • Allelic: Myopathy, myosin storage, AD/AR (MYH7)
  • Allelic: Myopathy, scapulohumeroperoneal (ACTA1)
  • Allelic: Myopathy, tubular aggregate, 1 (STIM1)
  • Allelic: Myopathy, tubular aggregate, 2 (ORAI1)
  • Allelic: Myosclerosis, congenital (COL6A2)
  • Allelic: Myotonia congenita, atypical, acetazolamide-responsive (SCN4A)
  • Allelic: Nemaline myopathy 1, AD/AR (TPM3)
  • Allelic: Nemaline myopathy 10 (LMOD3)
  • Allelic: Nemaline myopathy 2, AR (NEB)
  • Allelic: Nemaline myopathy 3, AD/AR (ACTA1)
  • Allelic: Nemaline myopathy 4, AD (TPM2)
  • Allelic: Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
  • Allelic: Neuronopathy, distal hereditary motor, type VIIA (SLC5A7)
  • Allelic: Paramyotonia congenita (SCN4A)
  • Allelic: Proximal myopathy + ophthalmoplegia (MYH2)
  • Allelic: Salih myopathy (TTN)
  • Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
  • Allelic: Spastic ataxia 1, AD (VAMP1)
  • Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
  • Allelic: Stormorken syndrome (STIM1)
  • Allelic: Tibial muscular dystrophy, tardive (TTN)
  • Allelic: Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)
  • Allelic: Ullrich congenital muscular dystrophy 2 (COL12A1)
  • Alkuraya-Kucinskas syndrome (KIAA1109)
  • Allelic: Myasthenic syndrome, cong., 3A, slow-channel (CHRND)
  • Arthrogryposis multiplex congenita (MYH3, TNNI2, TPM2)
  • Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect (LGI1)
  • Arthrogryposis multiplex congenita 5 (TOR1A)
  • Arthrogryposis multiplex congenita 5 (TOR1A)
  • Arthrogryposis multiplex congenita, distal, type 1 (TPM2)
  • Arthrogryposis, distal, type 1A (TPM2)
  • Arthrogryposis, distal, type 1B (MYBPC1)
  • Arthrogryposis, distal, type 2A [Freeman-Sheldon] (MYH3)
  • Arthrogryposis, distal, type 2B1 (TNNI2)
  • Arthrogryposis, distal, type 2B2 (TNNT3)
  • Arthrogryposis, distal, type 2B3 [Sheldon-Hall] (MYH3)
  • Arthrogryposis, distal, type 2B4 (TPM2)
  • Arthrogryposis, distal, type 3 (PIEZO2)
  • Arthrogryposis, distal, type 5 (PIEZO2)
  • Arthrogryposis, distal, type 5D (ECEL1)
  • Arthrogryposis, distal, with impaired proprioception + touch (PIEZO2)
  • Arthrogryposis, renal dysfunction + cholestasis 1 (VPS33B)
  • Carey-Fineman-Ziter syndrome (MYMK)
  • Carney complex variant (MYH8)
  • Cold-induced sweating syndrome 1 (CRLF1)
  • Congenital disorder of glycosylation, type Ij (DPAGT1)
  • Congenital myasthenic syndrome (CHRNA1, CHRNB1, RAPSN, VAMP1)
  • Congenital myopathy (MYL1)
  • Contractures, pterygia + spondylocarpotarsal fusion syndrome 1A + 1B (MYH3)
  • Distal arthrogryposis multiplex congenita (TNNI2)
  • Distal arthrogryposis multiplex congenita; Distal arthrogryposis type 1, 2B (TNNT3)
  • Distal arthrogryposis type 1 (TNNT3)
  • Dystonia-1, torsion (TOR1A)
  • Ehlers-Danlos syndrome, musculocontractural type 1 (CHST14)
  • Escobar syndrome [multiple pterygium syndrome, nonlethal type] (CHRNG)
  • Fetal akinesia deformation sequence 1 (MUSK)
  • Fetal akinesia deformation sequence 2 (RAPSN)
  • Fetal akinesia deformation sequence 3 (DOK7)
  • Hereditary motor + sensory neuropathy, type IIc (TRPV4)
  • Lethal congenital contracture syndrome 4 (MYBPC1)
  • Marden-Walker syndrome (PIEZO2)
  • Multiple pterygium syndrome, lethal type (CHRNA1, CHRND, CHRNG)
  • Multiple pterygium syndrome, lethal type (CHRND, CHRNG)
  • Muscular dystrophy, congenital, merosin deficient or partially deficient (LAMA2)
  • Muscular dystrophy, limb-girdle, AR 23 (LAMA2)
  • Muscular dystrophy, rigid spine, 1 (SELENON)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 10 (RXYLT1/TMEM5)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 12 (POMK)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 13 (B4GAT1)
  • 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/ISPD)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies, type A, 11 (B3GALNT2)
  • Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 2 (POMT2)
  • Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 6 (LARGE1)
  • Muscular dystrophy-dystroglycanopathy (cong. with/-out mental retardation), type B, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy (cong. without mental retardation), type B, 4 (FKTN)
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 (POMT2)
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (FKTN)
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 (CRPPA/ISPD)
  • Myasthenia, limb-girdle, familial; Fetal akinesia deformation sequence (DOK7)
  • Myasthenic syndrome, congenital, 3A-C (CHRND), 4A-C (CHRNE)
  • Myasthenic syndrome, congenital, assoc. with acetylcholine receptor deficiency (RAPSN)
  • Myasthenic syndrome, congenital, with tubular aggregates 2 (DPAGT1)
  • Myopathy, congenital, Baily-Bloch (STAC3)
  • Myopathy, congenital, with fiber-type disproportion (SELENON)
  • Myopathy, congenital, with fiber-type disproportion (TMP3)
  • Myopathy, tubular aggregate, 1 (ORAI1)
  • Myopathy, tubular aggregate, Stormorken syndrome (STIM1)
  • Myotubular myopathy, XL (MTM1)
  • Nemaline myopathy 5, Amish type (TNNT1)
  • Nemaline myopathy 8, AR (KLHL40)
  • Neuronopathy, distal hereditary motor, type VIII (TRPV4)
  • PERCHING syndrome (KLHL7)
  • Presynaptic congenital myasthenic syndrome (VAMP1)
  • Spinal muscular atrophy 1-4 (SMN1)
  • Spinal muscular atrophy with congenital bone fractures 2 (ASCC1)
  • Spinal muscular atrophy, XL 2, infantile (UBA1)
  • Spinal muscular atrophy, lower extremity-predominant, 2A, AD (BICD2)
  • Spinal muscular atrophy, lower extremity-predominant, 2B, AD (BICD2)
  • Wieacker-Wolff syndrome (ZC4H2)
  • Wieacker-Wolff syndrome, female-restricted (ZC4H2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

Test-Stärken

  • DAkkS-akkreditiertes Labor
  • EU-Richtlinie für IVD in Umsetzung
  • Qualitäts-kontrolliert arbeitendes Personal
  • Leistungsstarke Sequenzierungstechnologien, fortschrittliche Target-Anreicherungsmethoden und Präzisions-Bioinformatik-Pipelines sorgen für überragende analytische Leistung
  • Sorgfältige Kuratierung klinisch relevanter und wissenschaftlich begründeter Gen-Panels
  • eine Vielzahl nicht Protein-kodierender Varianten, die in unseren klinischen NGS-Tests mit erfasst werden
  • unser strenges Variantenklassifizierungsschema nach ACMG-Kriterien
  • unser systematischer klinischer Interpretations-Workflow mit proprietärer Software ermöglicht die genaue und nachvollziehbare Verarbeitung von NGS-Daten
  • unsere umfassenden klinischen Aussagen

Testeinschränkungen

  • Gene mit eingeschränkter Abdeckung werden gekennzeichnet
  • Gene mit kompletten oder partiellen Duplikationen werden gekennzeichnet
  • es wird angenommen, dass ein Gen suboptimal abgedeckt ist, wenn >90% der Nukleotide des Gens bei einem Mapping-Qualitätsfaktor von >20 (MQ>20) nicht abgedeckt sind
  • die Sensitivität der Diagnostik zur Erkennung von Varianten mit genannten Testeinschränkungen ist möglicherweise begrenzt bei:
  • Gen-Konversionen
  • komplexe Inversionen
  • Balancierte Translokationen
  • Mitochondriale Varianten
  • Repeat-Expansionen, sofern nicht anders dokumentiert
  • nicht kodierende Varianten, die Krankheiten verursachen, die von diesem Panel nicht mit abgedeckt werden
  • niedriger Mosaik-Status
  • Repeat-Blöcke von Mononukleotiden
  • Indels >50bp (Insertionen-Deletionen)
  • Deletionen oder Duplikationen einzelner Exons
  • Varianten innerhalb von Pseudogenen
  • die analytische Sensitivität kann geringer ausfallen werden, wenn die DNA nicht von amedes genetics extrahiert wurde

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.