Directory of tests

For more information on prices, please contact the West Midlands Regional Genetics Laboratory:

For referral information, please see the West Midlands Regional Genetics Laboratory page.

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Escobar syndrome

Escobar syndrome

Multiple Pterygium Syndrome (Escobar Syndrome)

TESTING STRATEGY

Direct mutation detection in CHRNG by sequence analysis.

Sequence analysis of DOK7 and RAPSN genes is available on request; please contact the laboratory to discuss testing prior to sending a sample.

SAMPLE REQUIREMENTS & REPORTING TIME

  • 5-10ml blood in EDTA, or DNA
  • 8 weeks for full mutation screen
  • 2 weeks for testing for a known mutation
  • 3 working days for prenatal diagnosis, available by prior arrangement. Please contact the laboratory.

FURTHER INFORMATION / LINKS

OMIM #265000