Ordering Recommendation

Use to confirm a clinical diagnosis of familial transthyretin amyloidosis (ATTR). Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. For additional information, please contact an ARUP genetic counselor at 800-242-2787 ext. 2141.

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA), or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA) or yellow (ACD solution)

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 mL)
New York State Clients: 5 mL (Min: 3 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: Unacceptable
New York State Clients: Ambient: 8 days; Refrigerated: 8 days; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

10-15 days

Reference Interval

By report

Interpretive Data

Refer to report.   

Compliance Category

Laboratory Developed Test (LDT)

Note

Gene Tested: TTR (NM_000371)

Hotline History

N/A

CPT Codes

81404

Components

Component Test Code* Component Chart Name LOINC
3004532 TTR Specimen
3004533 TTR Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • ATTR amyloid neuropathy
  • ATTR amyloidosis
  • ATTR cardiac amyloidosis
  • ATTR leptomeningeal amyloidosis/CNS amyloidosis
  • cerebral amyloid angiopathy
  • familial amyloid cardiomyopathy
  • familial amyloid polyneuropathy type I or type II
  • familial euthyroid hyperthyroxinemia
  • hATTR
  • hereditary transthyretin amyloidosis
Familial Transthyretin Amyloidosis (TTR) Sequencing