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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Alström syndrome

Alström syndrome

TESTING STRATEGY

Targeted sequencing of exons 8, 10 and 16 of the ALMS1 gene.

Sequencing of exons 1-7, 9, 11-15 and 17-23 of the ALMS1 gene is available on request.

SAMPLE REQUIREMENTS & REPORTING TIME

  • 5-10ml blood in EDTA or DNA
  • Diagnosis 8 weeks
  • Carrier testing 2 weeks
  • Prenatal diagnosis 3 working days, available by prior arrangement. Please contact the laboratory.

FURTHER INFORMATION / LINKS