Endocrinology/Metabolism
Diabetes
Diabetes extended analysis [127 genes] Code R-125
Childhood-onset diabetes [34 genes]. Code R-125S225
Insulin-resistant diabetes [27 genes]. Code R-125S226
Diabetes at neonatal onset [23 genes]. Code R-125S228
MODY maturity-onset diabetes of the young [15 genes]. Code R-125S224
Dyslipidaemias
Dyslipidaemia extended analysis [37 genes]. Code R-126
Familial hypercholesterolaemia [4 genes]. Code R-126S229
Tubulopathies
Tubulopathies extended analysis [88 genes]. Code R-158
Hypophosphatemic rickets [8 genes]. Code R-158S240
Non-syndromic obesity
Sexual differentiation disorders
Hypercalcaemia
Hypoglycaemia
Hyperinsulinism
Hyperphenylalaninemia
Hyperparathyroidism
Peroxisomal disorders
Lysosomal disorders
Vitamin B12 deficiency
Glycosylation disorders
Chylomicronemia
Porphyria
Hypogonadism and Kallmann syndrome
Primary amenorrhoea
Classical congenital adrenal hyperplasia due to 21-hydroxylase (CYP21A2) deficiency
Hypobeta-abeta-lipoproteinemia
Short stature
Glycogenosis
Ciliopathies general panel
Primary ciliary dyskinesia
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
CDKN2B SALSA MLPA Probemix P419-B1 CDKN2A/2B-CDK4
SHOX SALSA MLPA Probemix P018 SHOX
CYP21A2 SALSA MLPA Probemix P050 CAH
GAA SALSA MLPA Probemix P453 GAA
SHOX SALSA MLPA Probemix P018 SHOX
CYP21A2 SALSA MLPA Probemix P050 CAH
GAA SALSA MLPA Probemix P453 GAA
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.