Laboratory Test Information Guide

Details for Familial Amyloidotic Polyneuropathy-TTR

Test Name: Familial Amyloidotic Polyneuropathy-TTR
Alternate Name(s): FAP
Laboratory: Molecular Diagnostics
Specimen Type: Whole blood-2 x 4 mL Lavender EDTA top Vacutainer tube
Collection Information: Blood samples must be maintained at room temperature.
Test Schedule: As required
Monday - Friday
0800 - 1600 h
Turnaround time from when specimen
is received in testing laboratory:
3 months
Reference Range: See report
Effective Date:  
Revised Date: 2016-03-21
Critical Value:  
Interpretive Comments: Familial Amyloidotic Polyneuropathy (FAP) is a neurodegenerative disorder characterized by extracellular deposition of transthyretin (TTR) amyloid fibrils, particularly in the peripheral nervous system 1. A number of sequence variants in the human Transthyretin (prealbumin) gene have been reported to result in FAP. These deleterious sequence variants, comprising more than 99% of disease-causing (amyloidogenic) mutations,2 may be detected by direct sequence analysis of the four exons comprising the coding sequence of the TTR gene using PCR-amplified, leukocyte-derived genomic DNA.
Special Processing:  
Comments: For more information click on:
Molecular Diagnostic Laboratory
Method of Analysis: DNA Sequence Analysis
Critical Information Required:  
Storage & Shipment: Must be received in testing laboratory within 5 days of collection, shipped at room temperature by courier/overnight delivery.
System Codes: 
Referred To:  

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