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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessGM1-Gangliosidosis type III, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for GM1-gangliosidosis type III comprising 26 curated genes according to the clinical signs

ID
GP0919
Number of genes
26 Accredited laboratory test
Examined sequence length
2,1 kb (Core-/Core-canditate-Genes)
59,4 kb (Extended panel: incl. additional genes)
Analysis Duration
auf Anfrage
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
GLB12034AR
AR2763XLR
ATP7B4398AR
C9orf721446AD
CHCHD10429AD
CLN6936AR
CTSF1455AR
DNAJC5597AD
DNAJC62913AR
FBXO71332AR
FUS1581AD
FXN633AR
GALNS1569AR
HEXA1590AR
HEXB1671AR
HTT9429AD
PARK7570AR
PINK11746SMu
PRKN1398AD
SMN1885AR
SOD1465AD, AR
SYNJ14839AR
TARDBP1245AD
TFG1203AD, AR
VAPB732AD
VPS13C11512AR

Informations about the disease

Synonyms
  • Alias: Beta-galactosidase-1 deficiency
  • Alias: Infantile GM1 gangliosidosis
  • Alias: Landing disease, Norman-Landing disease
  • Allelic: Hypospadias 1, XL (AR)
  • Allelic: Lopes-Maciel-Rodan syndrome (HTT)
  • Allelic: Myopathy, isolated mitochondrial, AD (CHCHD10)
  • Allelic: Spinal muscular atrophy, Jokela type (CHCHD10
  • Amyotrophic lateral sclerosis 10, with/-out FTD (TARDBP)
  • Amyotrophic lateral sclerosis 6, with/-out frontotemporal dementia (FUS)
  • Amyotrophic lateral sclerosis 8 (VAPB)
  • Androgen insensitivity (AR)
  • Androgen insensitivity, partial (AR)
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type, AD (CTSF)
  • Ceroid lipofuscinosis, neuronal, 4A, Kufs type, (CLN6)
  • Ceroid lipofuscinosis, neuronal, 4B, Kufs type, AD (DNAJC5)
  • Ceroid lipofuscinosis, neuronal, 6 (CLN6)
  • Essential tremor, hereditary, 4 (FUS)
  • Friedreich ataxia (FXN)
  • Friedreich ataxia with retained reflexes (FXN)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (C9orf72)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (CHCHD10)
  • Frontotemporal lobar degeneration, TARDBP-related (TARDBP)
  • GM1-gangliosidosis, type I (GLB1)
  • GM1-gangliosidosis, type II (GLB1)
  • GM1-gangliosidosis, type III (GLB1)
  • GM2-gangliosidosis, several forms (HEXA)
  • Hereditary motor and sensory neuropathy, Okinawa type (TFG)
  • Hex A pseudodeficiency (HEXA)
  • Huntington disease (HTT_CAG)
  • Mucopolysaccharidosis IVA (GALNS)
  • Mucopolysaccharidosis type IVB, Morquio (GLB1)
  • Parkinson disease 15, AR (FBXO7)
  • Parkinson disease 19a, juvenile-onset (DNAJC6)
  • Parkinson disease 19b, early-onset (DNAJC6)
  • Parkinson disease 23, AR, early onset (VPS13C)
  • Parkinson disease 6, early onset (PINK1)
  • Parkinson disease 7, AR early-onset (PARK7)
  • Parkinson disease, juvenile, type 2 (PRKN)
  • Sandhoff disease, infantile, juvenile + adult forms (HEXB)
  • Spastic paraplegia 57, AR (TFG)
  • Spinal and bulbar muscular atrophy of Kennedy (AR_CAG)
  • Spinal muscular atrophy, late-onset, Finkel type (VAPB)
  • Spinal muscular atrophy-1-4 (SMN1)
  • Tay-Sachs disease (HEXA)
  • Wilson disease (ATP7B)
Heredity, heredity patterns etc.
  • AD
  • AR
  • SMu
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E75.1

Bioinformatics and clinical interpretation

No text defined