English
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)
56,1 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| FA2H | 1119 | NM_024306.5 | AR | |
| ARSA | 1530 | NM_000487.6 | AR | |
| ATP7B | 4398 | NM_000053.4 | AR | |
| C19orf12 | 459 | NM_001031726.3 | AR, AD | |
| COASY | 1695 | NM_025233.7 | AR | |
| FXN | 633 | NM_000144.5 | AR | |
| GCH1 | 753 | NM_000161.3 | AD, AR | |
| GJC2 | 1320 | NM_020435.4 | AR | |
| HEXA | 1590 | NM_000520.6 | AR | |
| PANK2 | 1713 | NM_153638.4 | AR | |
| PLA2G6 | 2421 | NM_003560.4 | AR | |
| PLP1 | 834 | NM_000533.5 | XLR | |
| POLR3A | 4173 | NM_007055.4 | AR | |
| POLR3B | 3402 | NM_018082.6 | AR | |
| SACS | 13740 | NM_014363.6 | AR | |
| SPG11 | 7332 | NM_025137.4 | AR | |
| TUBB4A | 1335 | NM_006087.4 | AD | |
| ZFYVE26 | 7620 | NM_015346.4 | AR |
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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