Biochemistry

Full details for "Genetic Test for Haemochromatosis".
Name	Genetic Test for Haemochromatosis
Alternative name/Profile	HFE genotyping
Department	Biochemistry
Investigation	To use as a diagnostic test when clinical signs/symptoms and/or evidence of iron overload established, or to determine carrier status in first degree relatives of affected probands.
Specimen type	3ml Purple EDTA Blood tube EDTA samples should be sent as soon as possible and the time/date of collection clearly noted on the request form. If any delay in the transport of samples is anticipated, EDTA samples should be left unspun and refrigerated. A buccal swab is also acceptable where blood is not appropriate (e.g. in the case of recipients of allogeneic bone marrow transplants).
Sample type
Sample container & volume
Frequency of analysis	Weekly
Turnaround time	6 weeks
Availability
Notes	Contact Person: Sarah Savaage (E-mail) Referred to: Molecular Diagnostics, Biochemistry Department, Central Pathology Laboratory, St. James's Hospital. Contact number for queries: Biochemistry Department, SJH. 01 416 2054 Any Special Requirements or Comments: Address all queries for results to the referral laboratory. Please consult HFE memo
Related links	Request form http://www.stjames.ie/media/HFE%20Genotyping%20Request%20Form%20v5%20(LF-BIO-0359)%20January%202019.pdf HFE Consent form http://www.stjames.ie/media/Haemochromatosis%20Gene%20(HFE)%20Mutation%20Consent.pdf
Reference range
SJH Patients Only	No
Last updated	Wed, 07 Apr 2021 15:13:34 BST