Diagnostic test for specific craniosynostosis syndrome (Apert / Pfeiffer / Crouzon)

Specimen Container	EDTA tube
Specimen Requirement	Whole Blood Adult / Paediatric: 3 mL Patient's / Parent's consent required. Hard copy consent required. Please do not share specimen with other labs.
Specimen Storage/Transport	Transport at room temperature. Stored at 4°C if not sent on the same day as collection.
Orderable as Urgent?	No
Turn Around Time	4-6 weeks
Testing Laboratory Location	KKH
Laboratory	DNA Diagnostic and Research Lab (DDRL)
Contact Number	6394 1395 / 6394 1396
Day and Time Performed	Mon - Fri: 0800 hrs - 1700 hrs
Orderable on CPOE?	Yes
Downtime Form	ClinGen Request General Constitutional Consent forms
Additional Information	Request form may be retrieved from website or call DNA Diagnostic and Research Lab (DDRL) @ 6394 1395 / 6394 1396.

Last Updated - 27 May 2025