Main Content

Obstetrics / Gynecology

CGC Mutation Panels

  • Bardet-Biedl Syndrome
  • Craniosynostosis
  • Fraser Syndrome
  • Metabolic Disorders
  • Noonan Syndrome and other Genetically Related Syndromes
  • Skeletal Dysplasia
  • Thrombophilia and Warfarin Pharmacogenetics

Prenatal Screening (not available in North America)

  • Prenatal Screening and Early Prenatal Diagnosis
  • 1st trimester Combined Prenatal Screening (ultrasound + ßhCG + PAPP-A)
  • 2nd trimester Prenatal Screening

Cytogenetics

  • Chromosome analysis of amniotic fluid
  • Chromosome analysis of chorionic villi
  • Chromosome analysis of stimulated cultures (peripheral blood)
  • Chromosome analysis of stimulated cultures (fetal blood)
  • Chromosome analysis of tissue fibroblasts
  • Fibroblasts cell culture (amniotic fluid/chorionic villi)
  • Fibroblasts cell culture (tissue)

Molecular Cytogenetics

Detection by FISH

  • Aneuploidies on uncultured amniotic fluid
  • Centromeric probes
  • DiGeorge Syndrome
  • Miller-Dieker Syndrome
  • Painting probes
  • Phelan-McDermid Syndrome
  • Prader-Willi/Angelman Syndrome
  • Smith-Magenis Syndrome
  • Subtelomeric probes
  • Unique sequence probes
  • Williams Syndrome
  • Wolf-Hirschhorn Syndrome
  • Y chromosome microdeletions

Molecular Diagnostics

  • 21-Hydroxylase deficiency (frequent mutations and deletion/duplication analysis on CYP21A2 gene)
  • Achondroplasia (FGFR3 gene)
  • Alpha-1 Antitrypsin (genotyping)
  • Alström Syndrome (gene ALMS1)
  • Angelman Syndrome (sequence analysis of UBE3A gene)
  • Bardet-Biedl Syndrome See CGC Mutation Panel
  • Becker Muscular Dystrophy (DMD gene)
  • Beckwith-Wiedemann Syndrome (methylation)
  • CADASIL (gene NOTCH3, exons 2 to 6 and 11)
  • Comparative Genomic Hybridization (CGH) deletion/duplication analysis of
  • the genome
  • Cardiofaciocutaneous Syndrome (frequent mutations of BRAF gene) See CGC Mutation Panel
  • 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 (COH1 gene, exon 23)
  • Costello Syndrome (frequent mutations of HRAS gene)
  • Craniosynostosis See CGC Mutation Panel
  • Cystic Fibrosis (frequent mutations of CFTR gene)
  • Cystic Fibrosis (sequence analysis of CFTR gene)
  • Detection of aneuploidies on uncultured amniotic fluid by Multiplex-PCR
  • Duchenne Muscular Dystrophy (DMD gene)
  • Familial Breast/Ovarian Cancer (deletion/duplication analysis of BRCA1 and BRCA2 genes)
  • Familial Breast/Ovarian Cancer (sequence analysis of BRCA1 and BRCA2 genes)
  • Familial Hemochromatosis (frequent mutations of HFE gene)
  • Fetal Rh (from Amniotic fluid ONLY)
  • Fragile X Syndrome
  • Fraser Syndrome See CGC Mutation Panel
  • Holt-Oram Syndrome (sequence analysis of TBX5 gene)
  • HPV genotyping (by PCR, greater sensitivity than hybrid capture)
  • Hypocondroplasia (FGFR3 gene)
  • Leber’s Hereditary Optic Neuropathy (sequence analysis of hot-spots)
  • LEOPARD Syndrome (frequent mutations of PTPN11 gene)
  • Marfan Syndrome (FBN1, TGFBR1 and TGFBR2 genes)
  • Metabolic Disorders See CGC Mutation Panel
  • 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 gene)
  • Prader-Willi/Angelman Syndrome (methylation)
  • Premature ovarian failure (FMR1 gene)
  • Pycnodysostosis
  • Silver-Russell Syndrome (methylation analysis of H19 gene)
  • Skeletal Dysplasia See CGC Mutation Panel
  • Spinal Muscular Atrophy (deletion/duplication analysis of SMN1 andSMN2 genes)
  • Spinal Muscular Atrophy (sequence analysis of SMN1 gene)
  • Steinert disease or Myotonic Dystrophy
  • Thrombophilia and Warfarin Pharmacogenetics See CGC Mutation Panel
  • Tomaculous Neuropathy (HNPP) (dosage analysis of PMP22 gene)
  • Tomaculous Neuropathy (HNPP) (microsatellite analysis)

 

  • 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)