TTR Gene, Full Gene Analysis (Sendout)

Useful For:

• Establishing a molecular diagnosis for patients with amyloidosis
• Identifying variants within TTR known to be associated with amyloidosis, allowing for predictive testing of at-risk family members
• This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in one gene associated with amyloidosis, TTR.

Clinical Cautions:

• Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Misinterpretation of results may occur if the information provided is inaccurate or incomplete.
• If testing was performed because of a clinically significant family history, it is often useful to first test an affected family member. Detection of a reportable variant in an affected family member would allow for more informative testing of at-risk individuals.
• To discuss the availability of additional testing options or for assistance in the interpretation of these results, contact the Mayo Clinic Laboratories genetic counselors at 800-533-1710.

Technical Limitations:

• Next-generation sequencing may not detect all types of genomic variants. In rare cases, false-negative or false-positive results may occur. The depth of coverage may be variable for some target regions; assay performance below the minimum acceptable criteria or for failed regions will be noted. Given these limitations, negative results do not rule out the diagnosis of a genetic disorder. If a specific clinical disorder is suspected, evaluation by alternative methods can be considered.
• There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. Confirmation of select reportable variants will be performed by alternate methodologies based on internal laboratory criteria.
• This test is validated to detect 95% of deletions up to 75 base pairs (bp) and insertions up to 47 bp. Deletions-insertions (delins) of 40 or more bp, including mobile element insertions, may be less reliably detected than smaller delins.

A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Outside Laboratories:

• Store and transport whole blood at ambient temperature.
• Expedite transport. Specimen must be received at Mayo Clinic Labs within 96 hours of collection (allow for transport time from UW-MT lab to Mayo).

Stability: Ambient (preferred): 96 hours; Refrigerated: 96 hours; Frozen: Unacceptable.

Store and transport whole blood at ambient temperature in original collection container.

Login: GSEND1-;ROOM TEMP

• GSNDT1: MAYO
• GSTYP1: WB
• GTSRQ1: ;TTR Gene, Full Gene Analysis (Mayo Test TTRZ)

Sendouts:

• Order Mayo Test: TTRZ.
• Samples preferred to arrive within 96 hours of collection.

Stability: Ambient: 96 hours; Refrigerated: 96 hours; Frozen: Unacceptable.