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Pediatrics

CGC Mutation Panels

  • Bardet-Biedl Syndrome See CGC Mutation Panel
  • Congenital Deafness (Nonsyndromic) See CGC Mutation Panel
  • Congenital Deafness (Syndromic) See CGC Mutation Panel
  • Congenital Deafness (Syndromic and Nonsyndromic) Combined Panel See CGC Mutation Panel
  • Fraser Syndrome See CGC Mutation Panel
  • Metabolic Disorders See CGC Mutation Panel
  • Noonan Syndrome and other Genetically Related Syndromes See CGC Mutation Panel
  • Skeletal Dysplasia See CGC Mutation Panel
  • Thrombophilia and Warfarin Pharmacogenetics See CGC Mutation Panel

Cytogenetics

  • Chromosome analysis of stimulated cultures (peripheral blood)
  • Chromosome analysis of tissue fibroblasts
  • Lymphocyte cell culture

Molecular Cytogenetics

Detection by FISH

  • Centromeric probes
  • DiGeorge Syndrome
  • Miller-Dieker Syndrome
  • Painting probes
  • Phelan-McDermid Syndrome
  • Prader-Willi/Angelman Syndrome
  • Sexual chromosomes (X/Y)
  • Smith-Magenis Syndrome
  • Subtelomeric probes
  • Subtelomeric rearrangements
  • Unique sequence probes
  • Williams Syndrome
  • Wolf-Hirschhorn Syndrome

Molecular Diagnostics

  • 21-Hydroxylase deficiency (frequent mutations and deletion/duplication analysis of CYP21A2 gene)
  • Achondroplasia (FGFR3 gene)
  • Alpha-1 Antitrypsin (genotyping)
  • Alström Syndrome (ALMS1 gene)
  • Angelman Syndrome (sequence analysis of UBE3A gene)
  • Autism related rearrangements (deletions/duplications of 15q11-13, 16p11, 22q13)
  • Bardet-Biedl Syndrome (BBS1 gene, M390R mutation)
  • Bardet-Biedl Syndrome (BBS1 gene, M390R mutation), Prenatal
  • Bardet-Biedl Syndrome See CGC Mutation Panel
  • Becker Muscular Dystrophy (DMD gene)
  • Beckwith-Wiedemann Syndrome (methylation)
  • Cardiofaciocutaneous Syndrome (frequent mutations of BRAF gene) See CGC Mutation Panel
  • Celiac disease (HLA-DQ/DR)
  • Charcot-Marie-Tooth disease type 1A (microsatellite analysis)
  • Charcot-Marie-Tooth disease type 1B (sequence analysis of MPZ gene)
  • Charcot-Marie-Tooth disease type 1C (sequence analysis of LITAF gene)
  • Charcot-Marie-Tooth disease type 1E (sequence analysis of PMP22 gene)
  • Charcot-Marie-Tooth disease type 2B1 (sequence analysis of LMNA gene)
  • Charcot-Marie-Tooth disease type 2E/1F (sequence analysis of NEFL gene)
  • Charcot-Marie-Tooth disease type 2I/2J (sequence analysis of MPZ gene)
  • Charcot-Marie-Tooth disease type 2K/4A (sequence analysis of GDAP1 gene)
  • Charcot-Marie-Tooth disease X-linked (sequence analysis of GJB1 gene)
  • Cohen Syndrome (gene COH1, exon 23)
  • Comparative Genomic Hybridization (CGH) deletion/duplication analyis of the genome
  • Congenital Deafness (MLPA deletion/duplication analysis of GJB2, GJB6, GJB3, POU3F4 and WFS1 genes)
  • Congenital Deafness (Nonsyndromic): DFNA3 (sequence analysis of GJB6 gene)
  • Congenital Deafness (Nonsyndromic): DFNB1 (sequence analysis of GJB6 gene)
  • Congenital Deafness (Nonsyndromic): DFNB1 and DFNA3 (sequence analysis of GJB2/Connexin 26 gene)
  • Congenital Deafness (Nonsyndromic): DFNB9 (sequence analysis of OTOF gene)
  • Congenital Deafness (X-Linked sequence analysis of POU3F4 gene)
  • Congenital Deafness(Nonsyndromic): DFNB4 (sequence analysis of SLC26A4 gene)
  • Congenital Deafness (Nonsyndromic) See CGC Mutation Panel
  • Congenital Deafness (Syndromic) See CGC Mutation Panel
  • Congenital Deafness (Syndromic and Nonsyndromic) Combined Panel See CGC Mutation Panel
  • Congenital Nephrotic Syndrome (sequence analysis NPHS2 gene)
  • Congenital Nephrotic Syndrome 1 (sequence analysis NPHS1 gene)
  • Costello Syndrome (frequent mutations of HRAS gene) See CGC Mutation Panel
  • Crohn disease (NOD2 gene)
  • Cystic Fibrosis (frequent mutations of CFTR gene)
  • Cystic Fibrosis (sequence analysis of CFTR gene)
  • Duchenne Muscular Dystrophy (DMD gene)
  • Familial Mediterranean Fever (frequent mutations of MEFV gene)
  • Fragile X Syndrome (FMR1 gene)
  • Fraser Syndrome See CGC Mutation Panel
  • Fructose intolerance (ALDOB gene)
  • Holt-Oram Syndrome (sequence analysis of TBX5 gene)
  • Hypocondroplasia (FGFR3 gene)
  • LEOPARD Syndrome (frequent mutations of PTPN11 gene)
  • Long QT Syndrome (mutation detection on KCNE1 gene)
  • Long QT Syndrome (mutation detection on KCNH2 gene)
  • Long QT Syndrome (mutation detection on KCNQ1 gene)
  • Long QT Syndrome (mutation detection on SCN5A gene)
  • Marfan Syndrome (FBN1, TGFBR1 and TGFBR2 genes)
  • Mitochondrial Congenital Deafness (frequent mutations)
  • Mitochondrial Encephalomyopathy (sequence analysis of hot-spots - MELAS syndrome)
  • MODY 1 (sequence analysis of HNF4a gene)
  • MODY 2 (sequence analysis of GCK gene)
  • MODY 3 (sequence analysis of HNF1-a gene)
  • MODY 5 (sequence analysis of HNF1-B gene)
  • Neurofibromatosis type I (deletion/duplication analysis of NF1 gene)
  • Neurofibromatosis type I (NF1 gene)
  • Noonan Syndrome (frequent mutations of PTPN11 gene)
  • Noonan Syndrome (frequent mutations on PTPN11 gene), Prenatal
  • Noonan Syndrome and Other Genetically Related Syndromes See CGC Mutation Panel
  • Oculopharyngeal Muscular Dystrophy (PABPN1)
  • Osteogenesis Imperfecta type 2, 3, 4 (sequence analysis of COL1A1 and COL1A2 genes)
  • Osteogenisis Imperfecta (sequence analysis of COL1A1 gene)
  • Osteogenisis Imperfecta (sequence analysis of COL1A2 gene)
  • Prader Willi/Angelman Syndrome (methylation)
  • Pycnodysostosis (gene CTSK)
  • Renal Glucosuria (sequence analysis of SLC5A2 gene)
  • Saethre-Shotzen Syndrome (sequence analysis of TWIST1 gene)
  • Short Stature (sequence analysis of SHOX gene)
  • Silver-Russell Syndrome (methylation analysis of H19 gene)
  • Skeletal Dysplasia See CGC Mutation Panel
  • Sotos Syndrome (deletion/duplication analysis of NSD1 gene)
  • Sotos Syndrome (NSD1 gene)
  • Spinal Muscular Atrophy (deletion/duplication analysis of SMN1 and SMN2 gene)
  • Spinal Muscular Atrophy (sequence analysis of SMN1 gene)
  • Steinert disease or Myotonic Dystrophy
  • Subtelomeric rearrangements by MLPA
  • Thrombophilia and Warfarin Pharmacogenetics See CGC Mutation Panel
  • Tomaculous Neuropathy (HNPP) (dosage analysis of PMP22 gene)
  • Tomaculous Neuropathy (HNPP) (microsatellite analysis)
  • Tuberous Sclerosis (sequence analysis of TSC1 and TSC2 genes)
  • Tuberous Sclerosis (sequence analysis of TSC1 gene)
  • Tuberous Sclerosis (sequence analysis of TSC2 gene)
  • Usher Syndrome (mutations on MYO7A, CDH23, PCDH15, USH1C and USH1G genes) See CGC Mutation Panel
  • Waardenburg Syndrome (mutations on PAX3 gene)

 

  • Panel of Syndromes associated to Mental Retardation: DiGeorge Syndrome (22q11), Williams Syndrome, Prader-Willi/Angelman Syndrome, Smith-Magenis Syndrome, Phelan-McDermid Syndrome (22q13), 1p36 Deletion Syndrome, Cri du Chat Syndrome (5p15), Miller-Dieker Syndrome (17p), Wolf-Hirschhorn Syndrome (4p16.3), 2p16 Microdeletion, Microdeletion 3q29 Syndrome, 9q22.3 Microdeletion, 15q24 Deletion Syndrome, 17q21 Microdeletion, Langer-Giedion Syndrome (8q), WAGR Syndrome, NF1 Microdeletion Syndrome, Duplication Xq28 (MECP2), Rubinstein-Taybi Syndrome, Sotos Syndrome (5q35.3), DiGeorge Syndrome critial region II (10p15)