SNP neurology

 

Sensory-motor and distal neuropathies
Details
Paragrafi Modificati

Sensory-motor and distal neuropathies extended analysis [93 genes]. Code R-189

Sensory-motor neuropathies: Axonal, demyelinating and intermediate CMTs [66 genes]. Code R-189S278

Distal motor neuropathy and SMA [42 genes]. Code R-187S273

Myopathies
Details
Paragrafi Modificati

Myopathies extended analysis [210 genes]. Code R-191

Metabolic and mitochondrial myopathies [70 genes]. Code R-191S282

Congenital myopathies [46 genes]. Code R-191S281

Muscular dystrophies [36 genes]. Code R-191S306

Caterpillar dystrophies [33 genes]. Code R-191S280

Distal myopathies [31 genes]. Code R-191S279

Myasthenic syndrome [28 genes]. Code R-191S283

Non-dystrophic myotonia [8 genes]. Code R-191S284

Periodic paralysis [8 genes]. Code R-191S285

Sensory autonomic neuropathies
Details
Glycogenosis
Details
Dystrophic myotonia type 1, search for DMPK expansions
Details
Facio-scapulohumeral myopathy type 1
Details
Facio-scapulohumeral myopathy type 2
Details
Familial amyloidosis (TTR)
Details

Related Analyses

Array CGH 400 K
Details
Array Agilent GenetiSure Postnatal Research CGH+SNP Microarray, 2x400K, average resolution 9.5 Kb, exon coverage ISCA genes: 89% ≧ 3 probes per exon; analysis performed using Agilent CytoGenomics 5.0.2.5 software Limitations: The test is not able to highlight balanced structural rearrangements and/or underrepresented mosaicisms
Array CGH 180 K
Details
Agilent GenetiSure Cyto 4x180K CGH array, average resolution 16.5 Kb (from 3.5kb in RefSeq genes to 19.8kb in the backbone), analysis performed using Agilent CytoGenomics 5.0.2.5 software Limitations: The test is not able to highlight balanced structural rearrangements and/or underrepresented mosaicisms
MLPA
Details
PMP22 SALSA MLPA Probemix P033 CMT1
KIF1B SALSA MLPA Probemix P033 CMT1
GAA SALSA MLPA Probemix P453 GAA
Family Segregation Analysis, Research Variant Note
Details
R&I Genetics offers the service of searching for known family variants. The analysis is carried out by Sanger resequencing, and for access it is necessary to indicate the nucleotide substitution and the corresponding transcript code (e.g. search for variant c.91C>T in the CFTR gene NM_000492)
Variant Search in Specific Genes
Details
R&I Genetics offers the service of targeted analysis of one or more specifically requested genes. These must be indicated in the analysis request form in the dedicated section. The analysis will be performed by means of NGS or Sanger sequencing.