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GTR Home > Tests > FBN1 sequencing and deletion/duplication analysis

How to order

How To Order

Laboratory's Test Page



How To Order


Using our website
Order URL Help: https://agdx.portal.cartagenia.com/catalog/list.htm

Informed Consent Required Help: Decline to answer

Specimen Source

  • Amniocytes
  • Amniotic fluid
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Peripheral (whole) blood

Test Codes


Not provided

Test Orderable By

  • Genetic Counselor
  • Licensed Physician

Testing Strategy


Simultaneous bi-directional sequencing of all coding exons and MLPA

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Sequence Analysis
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

Ordering Requirements

Genetic Counseling Required Pre-test Help
Decline to answer
Genetic Counseling Required Post-test Help
Decline to answer

Contact Policy


  • Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.

Suggested reading

Practice guidelines

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.