Skeletal System

 

Skeletal malformations
Details
Paragrafi Modificati

Skeletal malformations extended analysis [447 genes]. Code R-216

Bone dysplasias/dysostoses [163 genes]. Code R-216S296

Craniosynostosis [69 genes]. Code R-216S302

Osteogenesis imperfecta [41 genes]. Code R-216S298

Osteopetrosis [30 genes]. Code R-216S299

Brachydactyly [23 genes]. Code R-216S295

Polydactyly syndactyly triphalangism [23 genes]. Code R-216S300

Primordial dwarfism [18 genes]. Code R-216S297

Ectrodactyly [8 genes]. Code R-216S301

Tubulopathies
Details
Paragrafi Modificati

Tubulopathies extended analysis [88 genes]. Code R-158

Hypophosphatemic rickets [8 genes]. Code R-158S240

Ciliopathies
Details
Paragrafi Modificati

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

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

Jeune syndrome and short rib syndromes [20 genes]. Code R-188S305

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

Collagenopathies
Details
Paragrafi Modificati

Collagenopathies extended analysis [109 genes]. Code R-107

Ehlers-Danlos syndrome [56 genes]. Code R-107S211

Marfan syndrome [21 genes]. Code R-107S212

Stickler syndrome [5 genes]. Code R-107S214

Overgrowth
Details
Vitamin D dependent rickets
Details
Rasopathies and Noonan syndrome
Details
Short stature
Details
Arthrogryposis
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
SHOX SALSA MLPA Probemix P018 SHOX
MLC1 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.