Dermatology
Ectodermal dysplasia
Ichthyosis
Palmoplantar keratoderma
Xeroderma pigmentosum
Epidermolysis bullosa
Peeling skin syndrome
Elastic pseudoexantoma
Monilethrix
Tuberous sclerosis (TSC1 and TSC2)
Neurofibromatosis (NF1 and NF2)
Incontinentia pigmenti (IKBKG)
Related Analyses
Array CGH 400 K
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
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
TSC2 SALSA MLPA Probemix P351-D1 PKD1
NF1 SALSA MLPA Probemix P081 NF1 mix 1 and 2
NF2 SALSA MLPA Probemix P044 NF2
NF1 SALSA MLPA Probemix P081 NF1 mix 1 and 2
NF2 SALSA MLPA Probemix P044 NF2
Family Segregation Analysis, Research Variant Note
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
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.