IllnessAmyotrophic lateral sclerosis, autosomal recessive; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for autosomal recessive amyotrophic lateral sclerosis comprising 5 guideline-curated and another 18 curated genes according to the clinical signs

AP4859

Number of genes

17 Accredited laboratory test

Examined sequence length

18,1 kb (Core-/Core-canditate-Genes)
44,4 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
ALS2	4974	606352	NM_020919.4	AR
DCTN1	3837	601143	NM_004082.5	AD
FIG4	2724	609390	NM_014845.6	AR
FUS	1581	137070	NM_004960.4	AD
NEFH	3063	162230	NM_021076.4	AD, AR, Sus
PRPH	1413	170710	NM_006262.4	AD, Sus
SOD1	465	147450	NM_000454.5	AR
BSCL2	1197	606158	NM_032667.6	AD
GBE1	2109	607839	NM_000158.4	AR
HEXA	1590	606869	NM_000520.6	AR
OPTN	1734	602432	NM_021980.4	AD, AR
SETX	8034	608465	NM_015046.7	AD
SIGMAR1	672	601978	NM_005866.4	AR
SLC52A2	1338	607882	NM_024531.5	AR
SLC52A3	1410	613350	NM_033409.4	AR
SMN1	885	600354	NM_000344.4	AR
SPG11	7332	610844	NM_025137.4	AR

Informations about the disease

Clinical Comment

For general ALS information see AP0580

Synonyms

Alias: ALS AR
Allelic: Charcot-Marie-Tooth disease, axonal, type 2CC (NEFH)
Allelic: Charcot-Marie-Tooth disease, axonal, type 2X (SPG11)
Allelic: Charcot-Marie-Tooth disease, type 4J (FIG4)
Allelic: Essential tremor, hereditary, 4 (FUS)
Allelic: Neuronopathy, distal hereditary motor, type VIIB (DCTN1)
Allelic: Perry syndrome [parkinsonism, depression, weight loss + hypoventilation] (DCTN1)
Allelic: Polymicrogyria, bilateral temporooccipital (FIG4)
Allelic: Short-rib thoracic dysplasia 6 with/-out polydactyly (NEK1)
Allelic: Spastic paralysis, infantile onset ascending (ALS2)
Allelic: Spastic paraplegia 11, AR (SPG11)
Allelic: Spastic tetraplegia + axial hypotonia, progressive (SOD1)
Allelic: Spinocerebellar ataxia, AR, with axonal neuropathy 2 (SETX)
Allelic: Yunis-Varon syndrome [cleidocranial dysplasia, digital anomalies, neuron loss] (FIG4)
Amyotrophic lateral sclerosis 1 (SOD1)
Amyotrophic lateral sclerosis 11 (FIG4)
Amyotrophic lateral sclerosis 2, juvenile (ALS2)
Amyotrophic lateral sclerosis 4, juvenile (SETX)
Amyotrophic lateral sclerosis 5, juvenile (SSPG11)
Amyotrophic lateral sclerosis 6, with/-out frontotemporal dementia (FUS)
Amyotrophic lateral sclerosis, susceptibility to (ALS2)
Amyotrophic lateral sclerosis, susceptibility to (NEFH)
Amyotrophic lateral sclerosis, susceptibility to (PRPH)
Amyotrophic lateral sclerosis, susceptibility to, 24 (NEK1)
Brown-Vialetto-Van Laere syndrome 1 (SLC52A3)
Brown-Vialetto-Van Laere syndrome 2 (SLC52A2)
Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
Fazio-Londe disease (SLC52A3)
GM2-gangliosidosis, several forms (HEXA)
Glycogen storage disease IV (GBE1)
Lipodystrophy, congenital generalized, type 2 (BSCL2)
Neuropathy, distal hereditary motor, type VC (BSCL2)
Polyglucosan body disease, adult form (GBE1)
Primary lateral sclerosis, juvenile (ALS2)
Silver spastic paraplegia syndrome (BSCL2)
Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
Tay-Sachs disease (HEXA)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

G12.2

Bioinformatics and clinical interpretation

No text defined