GTR Home > Tests > Test for Chronic Granulomatous Disease, Autosomal Recessive Cytochrome b-Positive, Type II

Overview

Conditions for which test is offered: Chronic Granulomatous Disease, Autosomal Recessive Cytochrome b-Positive, Type II

Testing Method

  • Molecular Genetics
    • Sequence analysis of the entire coding region
    • Deletion/duplication analysis

Test services

  • Prenatal testing
  • Carrier testing

Test CommentHelp

  • Deletion/duplication analysis is available as a stand-alone test or as part of an ultra-high resolution panel that evaluates one or more genes at the exon level with confirmation by qPCR/MLPA.
  • Tiered testing with other CGD-associated genes is also available.

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.

Genetic counselor

  • Elizabeth Butler, MS, CGC, Laboratory Genetic Counselor
  • Phone number: 301-519-2100 ext 6205
  • Email: liz@genedx.com
  • Fax number: 301-519-2892
  • Amy Daly, MS, CGC, Laboratory Genetic Counselor
  • Phone number: 301-519-2100 ext 6229
  • Email: amyd@genedx.com
  • Fax number: 301-519-2892
  • Bethany Friedman, MS, CGC, Laboratory Genetic Counselor
  • Phone number: 301-519-2100 ext 6228
  • Email: bethany@genedx.com
  • Fax number: 301-519-2892
  • Amy Fuller, MS, CGC, Laboratory Genetic Counselor
  • Phone number: 301-519-2100 ext 6174
  • Email: amy@genedx.com
  • Fax number: 301-519-2892
  • Jaimie Higgs, MS, CGC, Laboratory Genetic Counselor
  • Phone number: 301-519-2100 ext 6110
  • Email: jaimie@genedx.com
  • Fax number: 301-519-2892
  • Aura Janze, MS, CGC, Laboratory Genetic Counselor
  • Phone number: 301-519-2100 ext 6157
  • Email: ajanze@genedx.com
  • Fax number: 301-519-2892
  • Elizabeth Kramer, MGC, CGC, Laboratory Genetic Counselor
  • Phone number: 301-519-2100 ext 6245
  • Email: elizabeth@genedx.com
  • Fax number: 301-519-2892
  • Chris Lauricella, MS, CGC, Laboratory Genetic Counselor
  • Phone number: 301-519-2100 ext 6133
  • Email: chrisgc@genedx.com
  • Fax number: 301-519-2892
  • Darlene Riethmaier, MS, CGC, Laboratory Genetic Counselor
  • Phone number: 301-519-2100 ext 6212
  • Email: darlene@genedx.com
  • Fax number: 301-519-2892
  • Anita Shanmugham, MS, MPH, CGC, Laboratory Genetic Counselor
  • Phone number: 301-519-2100 ext 6244
  • Email: anita@genedx.com
  • Fax number: 301-519-2892
  • Amanda Singleton, MPH, ScM, Laboratory Genetic Counselor
  • Phone number: 301-519-2100 ext 6129
  • Email: asingleton@genedx.com
  • Fax number: 301-519-2892
  • Stephanie Sottile, MS, Laboratory Genetic Counselor
  • Phone number: 301-519-2100 ext 6165
  • Email: ssottile@genedx.com
  • Fax number: 301-519-2892
  • Brad Williams, MGC, Laboratory Genetic Counselor
  • Phone number: 301-519-2100 ext 6103
  • Email: brad@genedx.com
  • Fax number: 301-519-2892
  • Leah Williams, MS, CGC, Laboratory Genetic Counselor
  • Phone number: 301-519-2100 ext 6220
  • Email: leah@genedx.com
  • Fax number: 301-519-2892

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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