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GTR Home > Laboratories > Laboratory of Medical Genetics Unit

Laboratory of Medical Genetics Unit

  • Laboratory of Medical Genetics Unit, OPBG
  • Bambino Gesù Children's Hospital
  • Viale San Paolo 15
  • Roma, Lazio, Italy 00146
  • Phone: +390668592038
    Email: emanuele.agolini@opbg.net
  • Affiliated with:
    • Italian health care system

GTR Lab ID: 506277, Last updated:2019-07-23
Annual Review past due read more

Personnel

Conditions and tests

  • 46,XY disorder of sex development and 46,XY complete gonadal dysgenesis1 test
  • Complex cortical dysplasia with other brain malformations1 test
  • Congenital anomaly of kidney and urinary tract1 test
  • Congenital heart disease1 test
  • Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing2 tests
  • Disorder of endocrine system1 test
  • Epidermolysis bullosa simplex due to plakophilin deficiency1 test
  • Familial hemophagocytic lymphohistiocytosis1 test
  • Hereditary cancer-predisposing syndrome1 test
  • Intellectual disability1 test
  • RASopathy1 test
  • Skeletal dysplasia1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Custom Sequence Analysis
  • Custom microarray analysis
  • Genetic counseling
  • Maternal cell contamination study (MCC)
  • Result interpretation
  • Specimen Source Identification
  • Uniparental Disomy (UPD) Testing
  • Whole Exome Sequencing

Participation in external programs

Standardization programs

  • Other

Data exchange Programs

  • Other

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.