Klinische FragestellungZehenspitzen-Gang, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Zehenspitzen-Gang mit 2 "core candidate"-Genen sowie insgesamt 14 kuratierten Genen

ZP2581

Anzahl Gene

0 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

0,0 kb (Core-/Core-canditate-Gene)
- (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Material

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

ZP2581_DH

Genpanel

Ausgewählte Gene

Keine Gene verlinkt

Infos zur Erkrankung

Synonyme

Alias: Zehen-Gang
Allelic: Alpha-aminoadipic + alpha-ketoadipic aciduria (DHTKD1)
Allelic: Alpha-aminoadipic and alpha-ketoadipic aciduria (AIFM1)
Allelic: Combined oxidative phosphorylation deficiency 6 (AIFM1)
Allelic: Deafness, XL 5 (AIFM1)
Allelic: Dejerine-Sottas disease (EGR2)
Allelic: Dejerine-Sottas disease (PMP22)
Allelic: Dejerine-Sottas disease (PRX)
Allelic: Mononeuropathy of the median nerve, mild (SH3TC2)
Allelic: Mucopolysaccharidosis type IIIB, Sanfilippo B (NAGLU)
Allelic: Neuroblastoma, susceptibility to, 1 (KIF1B)
Allelic: Neuropathy, inflammatory demyelinating (PMP22)
Allelic: Neuropathy, recurrent, with pressure palsies (PMP22)
Allelic: Pheochromocytoma (KIF1B)
Allelic: Roussy-Levy syndrome (PMP22)
Allelic: Spondyloepimetaphyseal dysplasia, XL, with hypomyelinating leukodystrophy (AIFM1)
Charcot-Marie-Tooth disease, axonal, type 2K (GDAP1)
Charcot-Marie-Tooth disease, axonal, type 2Q (AIFM1)
Charcot-Marie-Tooth disease, axonal, type 2Q (DHTKD1)
Charcot-Marie-Tooth disease, axonal, type 2V (NAGLU)
Charcot-Marie-Tooth disease, axonal, type 2Z (MORC2)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis (GDAP1)
Charcot-Marie-Tooth disease, dominant intermediate G (NRFL)
Charcot-Marie-Tooth disease, recessive intermediate, A (GDAP1)
Charcot-Marie-Tooth disease, type 1A (PMP22)
Charcot-Marie-Tooth disease, type 1D (EGR2)
Charcot-Marie-Tooth disease, type 1E (PMP22)
Charcot-Marie-Tooth disease, type 1F (NRFL)
Charcot-Marie-Tooth disease, type 2A1 (KIF1B)
Charcot-Marie-Tooth disease, type 2E (NRFL)
Charcot-Marie-Tooth disease, type 4A (GDAP1)
Charcot-Marie-Tooth disease, type 4B2 (SBF2)
Charcot-Marie-Tooth disease, type 4C (SH3TC2)
Charcot-Marie-Tooth disease, type 4F (PRX)
Charcot-Marie-Tooth disease, type 4H (FGD4)
Cowchock syndrome (AIFM1)
Developmental delay, impaired growth, dysmorphic facies, axonal neuropathy (MORC2)
Hypomyelinating neuropathy, congenital, 1 (EGR2)
Spinocerebellar ataxia 13 (KCNC3)

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

Kein Text hinterlegt