CNS neurology

Syndromic and non-syndromic epilepsy
Details
Paragrafi Modificati

Syndromic and non-syndromic epilepsy extended analysis [1061 genes].  Code R-170
Analysis to be performed in trio

EpiActionDX [101 genes].  Code R-170S303
Analysis to be performed in trio - Referral within 45 days

Epileptic encephalopathy [105 genes].  Code R-170S248
Analysis to be performed in trio

Myoclonic epilepsy [34 genes].  Code R-170S253

Focal epilepsy [26 genes].  Code R-170S251

Doose syndrome [9 genes].  Code R-170S256

Febrile epilepsy [8 genes].  Code R-170S250

Nocturnal epilepsy [5 genes].  Code R-170S254

Neonatal benign epilepsy [5 genes].  Code R-170S247

Glycine encephalopathy [4 genes].  Code R-170S249

Temporal lobe epilepsy [4 genes].  Code R-170S252

Pyridoxine-dependent epilepsy [4 genes].  Code R-170S255

Dementias
Details
Paragrafi Modificati

Dementias extended analysis [81 genes] Code R-176

Frontotemporal dementia [16 genes]. Code R-176S263

Neurodegeneration with iron accumulation [16 genes]. Code R-176S257

Lysosomal storage dementia [12 genes]. Code R-176S262

Adult-onset leukodystrophy [9 genes]. Code R-176S261

Cerebral amyloid angiopathy [8 genes]. Code R-176S259

Familial vascular dementia [4 genes]. Code R-176S260

Alzheimer's disease [6 genes]. Code R-176S265

Basal ganglia: ganglion degeneration [3 genes]. Code R-176S258

Niemann-Pick disease type C (NPC1 and NPC2) [2 genes]. Code R-176S264

Motor neuron diseases
Details
Paragrafi Modificati

Motor neuron disease extended analysis [145 genes]. Code R-187

Spastic paraplegia [84 genes]. Code R-187S272

Amyotrophic lateral sclerosis (ALS) [50 genes]. Code R-187S271

Distal motor neuropathies (SMA) [42 genes]. Code R-187S273

Ciliopathies
Details
Paragrafi Modificati

Ciliopathies extended analysis [146 genes]. Code R-188

Joubert syndrome [40 genes]. Code R-188S275

Bardet-Biedl syndrome [24 genes]. Code R-188S274

Meckel syndrome [15 genes]. Code R-188S276

Senior Loken syndrome [10 genes]. Code R-188S277

Ataxia
Details
Paragrafi Modificati

Ataxia extended analysis [136 genes]. Code R-177

Episodic ataxia [9 genes]. Code R-177S266

Spastic ataxia [6 genes]. Code R-177S267

Extrapyramidal movement disorders
Details
Paragrafi Modificati

Extrapyramidal movement disorders extended analysis [137 genes]. Code R-184

Dystonia [43 genes]. Code R-184S269

Parkinsonism [37 genes]. Code R-184S270

Korea [18 genes]. Code R-184S286

Neurodevelopmental disorders
Details
Periventricular nodular heterotopia
Details
Leukodystrophy and leukoencephalopathy
Details
Microcephaly
Details
Disorders of small cerebral vessels - stroke
Details
Rasopathies and Noonan syndrome
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Peroxisomal disorders
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Lysosomal disorders
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Glycosylation disorders
Details
Elastic pseudoexantoma
Details
Xeroderma pigmentosum
Details
Incontinentia pigmenti (IKBKG)
Details
Neurofibromatosis (NF1 and NF2)
Details
Tuberous Sclerosis (TSC1 and TSC2)
Details
Agenesis / dysplasia of the corpus callosum
Details
Cerebellar hypoplasia
Details
Mitochondriopathies (nuclear genes)
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Mitochondrial DNA depletion syndromes (nuclear genes)
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Ceroidolipofuscinosis
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Cortical malformations
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Paroxysmal movement disorders
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Monogenic migraine
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Septo-optic dysplasia
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
NF1 SALSA MLPA Probemix P081 NF1 mix 1 and 2
NF2 SALSA MLPA Probemix P044 NF2
GAA SALSA MLPA Probemix P453 GAA
D2HGDH SALSA MLPA Probemix P107 Neurometabolic
L2HGDH SALSA MLPA Probemix P107 Neurometabolic
MLYCD SALSA MLPA Probemix P107 Neurometabolic
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.