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Sotos Syndrome (Cerebral Gigantism)– NSD1 sequencing + deletions/duplications#

Requires patient informed consent

Sample Reqs

A

Turnaround

5 weeks

Special instructions

Clinical history must be provided.

# This test is referred to a specialist laboratory within our network of collaborators (test not on TDL/HSL scopes of accreditation).



Sample type guide

A

Lavender Vacutainer, EDTA anticoagulant, 4ml/10ml(10ml EDTA tubes are used for specific PCR assays)