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Multiple Pterygium Syndrome (Escobar Syndrome)
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.