Deutsch
IllnessSpastic paraplegia, X-linked; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Spastic paraplegia, X-linked, containing 6 cre candidate genes according to the clinical signs
ID
PP0042
Number of genes
6
Accredited laboratory test
Examined sequence length
14,7 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
[Sanger]
Gene panel
Informations about the disease
Clinical Comment
DD: Allan-Herndon-Dudley syndrome SLC16A2 mutations.
DD: Mental retardation, X-linked, syndromic, Claes-Jensen type KDM5C mutations.
Synonyms
- Alias: Hereditary spatic paraplegia, HSP
- Alias: Spastic spinal paralysis, XL
- Adrenoleukodystrophy (ABCD1)
- Adrenomyeloneuropathy, adult (ABCD1)
- Allan-Herndon-Dudley syndrome (SLC16A2)
- Allelic: Hydrocephalus due to aqueductal stenosis (L1CAM)
- Allelic: Hydrocephalus with Hirschsprung disease (L1CAM)
- Allelic: Hydrocephalus with congenital idiopathic intestinal pseudoobstruction (L1CAM)
- Allelic: Pelizaeus-Merzbacher disease (PLP1)
- CRASH syndrome (L1CAM)
- Corpus callosum, partial agenesis of (L1CAM)
- Intellectual disability + spastic paraplegia (CDK16)
- MASA syndrome (L1CAM)
- Mental retardation, XL, syndromic, Claes-Jensen type (KDM5C)
- Spastic paraplegia 2, XL (PLP1)
Heredity, heredity patterns etc.
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined