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Test ID TTRX Amyloidosis, Transthyretin-Associated Familial, Reflex, Blood

Useful For

Diagnosis of adult individuals suspected of having transthyretin-associated familial amyloidosis

Genetics Test Information

Mass spectrometry to evaluate transthyretin (TTR) protein structure is performed first. In all cases demonstrating a structural change, the TTR gene will be further analyzed by DNA sequence analysis. If no alterations are detected, the reflex full gene analysis will not be performed unless a specific request for TTRZ / TTR Gene, Full Gene Analysis, Varies is submitted by the ordering physician or client.

Method Name

Affinity Chromatography/Mass Spectrometry (MS)

Reporting Name

Familial Amyloidosis Reflex

Specimen Type

Whole blood


Shipping Instructions


Specimen must arrive within 4 days of collection. Specimens are stabilized upon receipt and stored until testing is performed.



Specimen Required


Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.


Specimen Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Refrigerated (preferred) 4 days
  Ambient  4 days

Reference Values

An interpretive report will be provided.

Day(s) Performed

Tuesday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82542

81404 (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
TTRX Familial Amyloidosis Reflex 94864-6

 

Result ID Test Result Name Result LOINC Value
22668 Wild Type Mass 94860-4
22669 Wild Type Width at Half Height 94863-8
22670 Second Mass 94862-0
22671 Mass Difference 94861-2
22673 Abnormal result 51968-6
50944 Interpretation 69047-9
50946 Reviewed By 18771-6

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
TTRZ TTR Gene, Full Gene Analysis Yes No

Testing Algorithm

If familial amyloidosis by liquid chromatography-mass spectrometry is abnormal, DNA sequencing will be performed at an additional charge.

 

For more information see Amyloidosis (Familial) Test Algorithm.

Report Available

3 to 9 days

NY State Approved

Yes

Forms

If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:

-Hematopathology/Cytogenetics Test Request (T726)

-Biochemical Genetics Test Request (T798)