GTR Home > Tests > Test for PALB2-Related Fanconi Anemia

Overview

Conditions for which test is offered: PALB2-Related Fanconi Anemia

Testing Method

  • Molecular Genetics
    • Sequence analysis of the entire coding region

Test services

  • Prenatal testing

Contact Policy Help

Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Laboratory can only accept contact from health care providers. Patients/families interested in participating in a research study should discuss this option with their health care provider.

Genetic counselor

  • Elaine Chen, MS, Laboratory Genetic Counselor
  • Phone number: 949-900-5500
  • Email: echen@ambrygen.com
  • Fax number: 949-900-5501
  • Kelly D. F. Gonzalez, MS, CGC, Laboratory Genetic Counselor
  • Phone number: 949-900-5500
  • Email: kgonzalez@ambrygen.com
  • Fax number: 949-900-5501
  • Tami Johnston, MS, CGC, Laboratory Genetic Counselor
  • Phone number: 949-900-5500
  • Email: tjohnston@ambrygen.com
  • Fax number: 949-900-5501
  • Steven Keiles, MS, CGC, Laboratory Genetic Counselor
  • Phone number: 949-900-5515
  • Email: skeiles@ambrygen.com
  • Fax number: 949-900-5501
  • Ira Lu, MSc, CGC, Laboratory Genetic Counselor
  • Phone number: 949-900-5500
  • Email: ilu@ambrygen.com
  • Fax number: 949-900-5501
  • Frances Oh, MS, Laboratory Genetic Counselor
  • Phone number: 949-900-5500
  • Email: foh@ambrygen.com
  • Fax number: 949-900-5501
  • Melissa Parra, MS, CGC, Laboratory Genetic Counselor
  • Phone number: 949-900-5500
  • Email: mparra@ambrygen.com
  • Fax number: 949-900-5501
  • Jill D Siegfried, MS, CGC, Laboratory Genetic Counselor
  • Phone number: 949-900-5590
  • Email: jsiegfried@ambrygen.com
  • Fax number: 949-900-5500
  • Stephany Tandy, MS, Laboratory Genetic Counselor
  • Phone number: 949-900-5500
  • Email: standy@ambrygen.com
  • Fax number: 949-900-5501
  • Linbo Yu, MS, CGC, Laboratory Genetic Counselor
  • Phone number: 949-900-5500
  • Email: lyu@ambrygen.com
  • Fax number: 949-900-5501

Clinical resources

Practice guidelines

  • FARF, 2008
    Fanconi Anemia Research Fund, Guidelines for Diagnosis and Management, 2008

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.

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