Biochemistry
| Full details for "Genetic Test for Hereditary Transthyretin mediated Amyloidosis (hATTR)". | |
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Name |
Genetic Test for Hereditary Transthyretin mediated Amyloidosis (hATTR) |
Alternative name/Profile |
Mutational scanning analysis of the TTR gene, hATTR, Amyloidosis. |
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 |
EDTA 3 ml |
Sample container & volume |
EDTA 3 ml |
Frequency of analysis |
As required |
Turnaround time |
6 weeks |
Availability |
SPECIALISED GENETIC TESTING Specialised genetic requests are not available to primary care physicians. Specialised genetic requests are available to external hospitals and internal (SJH) hospital only, under the direction of a hospital Consultant. External requests must be discussed with the SJH Biochemistry clinical team prior to sending to the laboratory. Refer to contact 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, which also includes the consent form. These forms can be found by clicking on: “GP & External Request Forms” on the list on the right of this page
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Reference range |
N/A |
Last updated |
Fri, 03 Jan 2025 13:53:17 GMT |