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IllnessMorbus Sandhoff, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Morbus Sandhoff comprising 2 guideline-curated core genes as well as altogether 36 [also in part guideline-] curated genes according to the clinical signs

ID
SP0901
Number of genes
35 Accredited laboratory test
Examined sequence length
3,3 kb (Core-/Core-canditate-Genes)
54,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
HEXA1590NM_000520.6AR
HEXB1671NM_000521.4AR
AR2763NM_000044.6XL
ASPA942NM_000049.4AR
ATXN23462NM_002973.4AD
ATXN31086NM_004993.6AD
C9orf721446NM_018325.5AD
CACNA1A6786NM_001127221.2AD
CHCHD10429NM_213720.3AD
CLN31317NM_001042432.2AR
CLN51077NM_006493.4AR
CLN6936NM_017882.3AR
CLN8861NM_018941.4AR
CTSA1497NM_000308.4AR
CTSD1239NM_001909.5AR
CTSF1455NM_003793.4AR
DNAJC5597NM_025219.3AD
FUS1581NM_004960.4AD
FXN633NM_000144.5AD
GALC2058NM_000153.4AR
GBA11611NM_001005741.3AR
GFAP1299NM_002055.5AD
GLB12034NM_000404.4AR
GM2A582NM_000405.5AR
GNPTAB3771NM_024312.5AR
MFSD81557NM_152778.3AR
NEU11248NM_000434.4AR
PPT1921NM_000310.4AR
SMN1885NM_000344.4AR
SMPD11896NM_000543.5AR
SOD1465NM_000454.5AD, AR
TARDBP1245NM_007375.4AD
TFG1203NM_006070.6AD
TPP11692NM_000391.4AR
VAPB732NM_004738.5AD

Informations about the disease

Synonyms
  • Alias: GM2-Gangliosidose (HEXA, HEXB, GM2A)
  • Alias: Sandhoff disease, infantile, juvenile + adult forms (HEXB)
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to, 13 (ATXN2)
  • Allelic: Androgen insensitivity (AR)
  • Allelic: Androgen insensitivity, partial, with/-out breast cancer (AR)
  • Allelic: Essential tremor, hereditary, 4 (FUS)
  • Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (CHCHD10)
  • Allelic: Hypospadias 1, XL (AR)
  • Allelic: Macular dystrophy with central cone involvement (MFSD8)
  • Allelic: Migraine, familial hemiplegic, 1 (CACNA1A)
  • Allelic: Parkinson disease, late-onset, susceptibility to (ATXN2)
  • Alexander disease (GFAP)
  • Amyotrophic lateral sclerosis 1 (SOD1)
  • Amyotrophic lateral sclerosis 10, with/-out FTD (TARDBP)
  • Amyotrophic lateral sclerosis 6, with/-out frontotemporal dementia (FUS)
  • Amyotrophic lateral sclerosis 8 (VAPB)
  • Canavan disease (ASPA)
  • Ceroid lipofuscinosis, neuronal, 1 (PPT1)
  • Ceroid lipofuscinosis, neuronal, 10 (CTSD)
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type (CTSF)
  • Ceroid lipofuscinosis, neuronal, 2 (TPP1)
  • Ceroid lipofuscinosis, neuronal, 3 (CLN3)
  • Ceroid lipofuscinosis, neuronal, 4, Parry type (DNAJC5)
  • Ceroid lipofuscinosis, neuronal, 5 (CLN5)
  • Ceroid lipofuscinosis, neuronal, 6 (CLN6)
  • Ceroid lipofuscinosis, neuronal, 7 (MFSD8)
  • Ceroid lipofuscinosis, neuronal, 8 (CLN8)
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8)
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset (CLN6)
  • Charcot-Marie-Tooth disease, type 1A (PMP22)
  • Charcot-Marie-Tooth disease, type 1E (PMP22)
  • Dejerine-Sottas disease (PMP22)
  • Developmental and epileptic encephalopathy 42 (CACNA1A)
  • Episodic ataxia, type 2 (CACNA1A)
  • Friedreich ataxia (FXN)
  • Friedreich ataxia with retained reflexes (FXN)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (C9orf72)
  • Frontotemporal lobar degeneration, TARDBP-related (TARDBP)
  • GM1-gangliosidosis, type I, II + III (GLB1)
  • GM2-gangliosidosis, AB variant (GM2A)
  • Galactosialidosis (CTSA)
  • Gaucher disease, perinatal lethal (GBA)
  • Gaucher disease, type I, II, III + IIIC
  • Hereditary motor + sensory neuropathy, Okinawa type (TFG)
  • Krabbe disease (GALC)
  • Machado-Joseph disease (ATXN3)
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
  • Mucolipidosis II + III alpha/beta (GNPTAB)
  • Mucopolysaccharidosis type IVB [Morquio] (GLB1)
  • Myopathy, isolated mitochondrial, AD (CHCHD10)
  • Neuropathy, inflammatory demyelinating (PMP22)
  • Neuropathy, recurrent, with pressure palsies (PMP22)
  • Niemann-Pick disease, type A + B (SMPD1)
  • Roussy-Levy syndrome (PMP22)
  • Sandhoff disease, infantile, juvenile + adult forms (HEXB)
  • Sialidosis, type I + II (NEU1)
  • Spastic paraplegia 57, AR (TFG)
  • Spastic tetraplegia + axial hypotonia, progressive (SOD1)
  • Spinal and bulbar muscular atrophy of Kennedy (AR_CAG)
  • Spinal muscular atrophy, Jokela type (CHCHD10)
  • Spinal muscular atrophy, late-onset, Finkel type (VAPB)
  • Spinal muscular atrophy-1, -2, -3 + -4 (SMN1)
  • Spinocerebellar ataxia 2 (ATXN2)
  • Spinocerebellar ataxia 6 (CACNA1A)
  • Spinocerebellar ataxia, AR 7 (TPP1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined