Klinische FragestellungNeuropathie, hereditäre motorische, Kinder/Jugendliche; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Neuropathie, hereditäre motorische, Kinder/Jugendliche mit 24 Leitlinien-kuratierten Genen gemäß klinischer Verdachtsdiagnose

NP6698

Anzahl Gene

5 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

7,7 kb (Core-/Core-canditate-Gene)
- (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Material

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Genpanel

Ausgewählte Gene

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
AARS1	2927	601065	NM_001605.3	AD
BICD2	2568	609797	NM_001003800.2	AD
CHCHD10	429	615903	NM_213720.3	AD
REEP1	606	609139	NM_022912.3	AD
SORD	1074	182500	NM_003104.6	AR

Infos zur Erkrankung

Synonyme

Alias: Distal hereditary motor neuropathy, DHMN
Allelic: Amyotrophic lateral sclerosis 16, juvenile (SIGMAR1)
Allelic: Amyotrophic lateral sclerosis 4, juvenile (SETX)
Allelic: Amyotrophic lateral sclerosis, susceptibility to (DCNT1)
Allelic: Deafness, AD 4A (MYH14)
Allelic: Myasthenic syndrome, congenital, 20, presynaptic (SLC5A7)
Allelic: Perry syndrome [parkinsonism, depression, respiratory hypoventilation] (DCNT1)
Allelic: Spastic paraplegia 31, AD (REEP1)
Allelic: Usher syndrome type 3B (HARS1)
Charcot-Marie-Tooth disease, RI C (PLEKHG5)
Charcot-Marie-Tooth disease, axonal, type 2F (HSPB1)
Charcot-Marie-Tooth disease, axonal, type 2L (HSPB8)
Charcot-Marie-Tooth disease, axonal, type 2N (AARS1)
Charcot-Marie-Tooth disease, axonal, type 2O (DYNC1H1)
Charcot-Marie-Tooth disease, axonal, type 2S (IGHMBP2)
Charcot-Marie-Tooth disease, axonal, type 2W (HARS1)
Charcot-Marie-Tooth disease, type 2D (GARS1)
Developmental + epileptic encephalopathy 29 (AARS1)
Hereditary motor and sensory neuropathy, type IIc (TRPV4)
Neuromyotonia + axonal neuropathy, AR (HINT1)
Neuronopathy, distal hereditary motor, type IIA (HSPB8)
Neuronopathy, distal hereditary motor, type IIB (HSPB1)
Neuronopathy, distal hereditary motor, type IIC (HSPB3)
Neuronopathy, distal hereditary motor, type IID (FBXO38)
Neuronopathy, distal hereditary motor, type IX (WARS1)
Neuronopathy, distal hereditary motor, type VA (GARS1)
Neuronopathy, distal hereditary motor, type VB (REEP1)
Neuronopathy, distal hereditary motor, type VI (IGHMBP2)
Neuronopathy, distal hereditary motor, type VIIA (SLC5A7)
Neuronopathy, distal hereditary motor, type VIIB (DCNT1)
Neuronopathy, distal hereditary motor, type VIII (TRPV4)
Neuropathy, distal hereditary motor, type VA (BSCL2)
Peripheral neuropathy, myopathy, hoarseness, hearing loss (MYH14)
Spinal muscular atrophy, Jokela type (CHCHD10)
Spinal muscular atrophy, distal, AR, 2 (SIGMAR1)
Spinal muscular atrophy, distal, AR, 4 (PLEKHG5)
Spinal muscular atrophy, distal, XL 3 (ATP7A)
Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
Spinal muscular atrophy, lower extremity-predominant, 2A + 2B, AD (BICD2)
Spinocerebellar ataxia, AR, with axonal neuropathy 2 (SETX)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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