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Klinische FragestellungFettsäure-Hydroxylase-assoziierte Neurodegeneration, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Fettsäure-Hydroxylase-assoziierte Neurodegeneration mit zusammen genommen 19 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
FP9238
Anzahl Gene
18 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,2 kb (Core-/Core-canditate-Gene)
56,1 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
FA2H1119NM_024306.5AR
ARSA1530NM_000487.6AR
ATP7B4398NM_000053.4AR
C19orf12459NM_001031726.3AR, AD
COASY1695NM_025233.7AR
FXN633NM_000144.5AR
GCH1753NM_000161.3AD, AR
GJC21320NM_020435.4AR
HEXA1590NM_000520.6AR
PANK21713NM_153638.4AR
PLA2G62421NM_003560.4AR
PLP1834NM_000533.5XLR
POLR3A4173NM_007055.4AR
POLR3B3402NM_018082.6AR
SACS13740NM_014363.6AR
SPG117332NM_025137.4AR
TUBB4A1335NM_006087.4AD
ZFYVE267620NM_015346.4AR

Infos zur Erkrankung

Synonyme
  • Alias. Fatty Acid Hydroxylase-Associated Neurodegeneration (FA2H)
  • Alias: Spastic paraplegia 35, AR (FA2H)
  • Allelic: Lymphatic malformation 3 (GJC2)
  • Charcot-Marie-Tooth disease, axonal, type 2X (SPG11)
  • Dystonia 4, torsion, AD (TUBB4A)
  • Dystonia, DOPA-responsive, with/-out hyperphenylalaninemia (GCH1)
  • Friedreich ataxia (FXN)
  • Friedreich ataxia with retained reflexes (FXN)
  • GM2-gangliosidosis, several forms (HEXA)
  • HARP syndrome (PANK2)
  • Hex A pseudodeficiency (HEXA)
  • Hyperphenylalaninemia, BH4-deficient, B (GCH1)
  • Infantile neuroaxonal dystrophy 1 (PLA2G6)
  • Leukodystrophy, hypomyelin., 7, with/-out oligodontia and/or hypogonadotropic hypogonadism (POLR3A)
  • Leukodystrophy, hypomyelin., 8, with/-out oligodontia and/or hypogonadotropic hypogonadism (POLR3B)
  • Leukodystrophy, hypomyelinating, 2 (GJC2)
  • Leukodystrophy, hypomyelinating, 6 (TUBB4A)
  • Metachromatic leukodystrophy (ARSA)
  • Neurodegeneration with brain iron accumulation 1 (PANK2)
  • Neurodegeneration with brain iron accumulation 2B (PLA2G6)
  • Neurodegeneration with brain iron accumulation 4 (C19orf12)
  • Neurodegeneration with brain iron accumulation 6 (COASY)
  • Parkinson disease 14, AR (PLA2G6)
  • Pelizaeus-Merzbacher disease (PLP1)
  • Pontocerebellar hypoplasia, type 12 (COASY)
  • RNA polymerase III deficiency [panelapp] (POLR3C)
  • Spastic ataxia, Charlevoix-Saguenay type (SACS)
  • Spastic paraplegia 11, AR (SPG11)
  • Spastic paraplegia 15, AR (ZFYVE26)
  • Spastic paraplegia 2, XL (PLP1)
  • Spastic paraplegia 43, AR (C19orf12)
  • Spastic paraplegia 44, AR (GJC2)
  • Tay-Sachs disease (HEXA)
  • Wiedemann-Rautenstrauch syndrome (POLR3A)
  • Wilson disease (ATP7B)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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