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ErkrankungRiboflavin-Transporter-Defizienz, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Riboflavin-Transporter-Defizienz mit 2 bzw. zusammen genommen 17 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
RP5557
Anzahl Gene
17 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
2,8 kb (Core-/Basis-Gene)
24,6 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
SLC52A21338AR
SLC52A31410AR
AAAS1641AR
BSCL21197AD und/oder AR
C9orf721446AD
ETFA1002AR
ETFB768AR
ETFDH1854AR
FUS1581AD und/oder AR und/oder Gen Fusion
GARS12220AD
IGHMBP22982AR
SLC52A11347AD
SMN1885AR
SOD1465AD und/oder AR
TARDBP1245AD
UBQLN21875XLD
VWA11341AR

Infos zur Erkrankung

Synonyme
  • Alias: Bulbar palsy, progressive, with sensorineural deafness (SLC52A3)
  • Alias: Sensorineural deafness-pontobulbar palsy syndrome
  • Alias: Sensorineural hearing loss-pontobulbar palsy syndrome
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2S (IGHMBP2)
  • Allelic: Charcot-Marie-Tooth disease, type 2D (GARS1)
  • Allelic: Essential tremor, hereditary, 4 (FUS)
  • Allelic: Lipodystrophy, congenital generalized, type 2 (BSCL2)
  • Achalasia-addisonianism-alacrimia syndrome (AAAS)
  • Amyotrophic lateral sclerosis 1 (SOD1)
  • Amyotrophic lateral sclerosis 10, with/-out FTD (TARDBP)
  • Amyotrophic lateral sclerosis 15, with/-out frontotemporal dementia (UBQLN2)
  • Amyotrophic lateral sclerosis 6, with/-out frontotemporal dementia (FUS)
  • Brown-Vialetto-Van Laere syndrome 1 (SLC52A3)
  • Brown-Vialetto-Van Laere syndrome 2 (SLC52A2)
  • Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
  • Fazio-Londe disease (SLC52A3)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (C9orf72)
  • Frontotemporal lobar degeneration, TARDBP-related (TARDBP)
  • Glutaric acidemia IIA (ETFA)
  • Glutaric acidemia IIB (ETFB)
  • Glutaric acidemia IIC (ETFDH)
  • Neuronopathy, distal hereditary motor, type VA (GARS1)
  • Neuronopathy, distal hereditary motor, type VI (IGHMBP2)
  • Neuropathy, distal hereditary motor, type VC (BSCL2)
  • Neuropathy, hereditary motor, with myopathic features (VWA1)
  • Riboflavin deficiency (SLC52A1)
  • Silver spastic paraplegia syndrome (BSCL2)
  • Spastic tetraplegia + axial hypotonia, progressive (SOD1)
  • Spinal muscular atrophy, infantile, James type (GARS1)
  • Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Gen Fusion
  • AR
  • XLD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E88.8

Bioinformatik und klinische Interpretation

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