Biochemistry
| Full details for "Genetic Test for Hereditary Transthyretin mediated Amyloidosis (hATTR) ". | |
|---|---|
Name |
Genetic Test for Hereditary Transthyretin mediated Amyloidosis (hATTR) |
Alternative name/Profile |
Mutational scanning analysis of the TTR gene |
Department |
Biochemistry |
Investigation |
To use as a diagnostic test when clinical signs/symptoms and/or evidence of Transthyretin mediated Amyloidosis are present or to determine carrier status in first degree relatives of affected probands. |
Specimen type |
Whole Blood - EDTA |
Sample type |
|
Sample container & volume |
EDTA 3 ml |
Frequency of analysis |
As required |
Turnaround time |
6 weeks |
Availability |
SPECIALISED GENETIC TESTS - ALL REQUESTS MUST BE DISCUSSED WITH CONSULTANT CHEMICAL PATHOLOGIST/ Specialist registrar prior to sending to SJH , PLEASE CONTACT as per details below. |
Notes |
Referred to: Biochemical Genetics Laboratory, Biochemistry Department, Central Pathology Laboratory, St. James's Hospital. Contact number for queries: (01) 416 2054, biogeneticreports@stjames.ie. Consultant Chemical Pathologist: vcrowley@stjames.ie |
Related links |
Biochemical genetics request form must be completed along with genetic consent form. Both Request and Consent forms are available from the link below: https://www.stjames.ie/media/OG386%20%20Biochemical%20Genetics%20Requst%20Form%20version%2005.docx
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Reference range |
N/A |
SJH Patients Only |
No |
Last updated |
Fri, 28 Oct 2022 16:40:26 BST |