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Test Code THYRP Hereditary Thyroid Cancer Panel, Varies


Ordering Guidance


Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.

 

Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. For more information see FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.



Shipping Instructions


 



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Green top (Sodium heparin)

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 Stability Information: Ambient 4 days/Refrigerated 4 days/Frozen 4 days

Additional Information:

1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for samples received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.

2. To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.

 

Specimen Type: Saliva

Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.

Supplies: Saliva Swab Collection Kit (T786)

Specimen Volume: 1 Swab

Collection Instructions: Collect and send specimen per kit instructions.

Specimen Stability Information: Ambient (preferred) 30 days/Refrigerated 30 days

Additional information: Due to lower quantity/quality of DNA yielded from saliva, some aspects of the test may not perform as well as DNA extracted from a whole blood sample. When applicable, specific gene regions that were unable to be interrogated will be noted in the report. Alternatively, additional specimen may be required to complete testing.


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Molecular Genetics: Inherited Cancer Syndromes Patient Information (T519)

3. If not ordering electronically, complete, print, and send a Oncology Test Request (T729) with the specimen.

Useful For

Evaluating patients with a personal or family history suggestive of a hereditary thyroid cancer syndrome

 

Establishing a diagnosis of a hereditary thyroid cancer syndrome, allowing for targeted surveillance based on associated risks

 

Identifying genetic variants associated with increased risk for thyroid and other cancers, allowing for predictive testing and appropriate screening of at-risk family members

Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 7 genes associated with hereditary thyroid cancer syndromes: APC (including promoters 1A and 1B), DICER1, PRKAR1A, PTEN (including promoter), RET, TP53, and WRN. For more information see Method Description and Targeted Genes and Methodology Details for Hereditary Thyroid Cancer Panel.

 

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for hereditary thyroid cancer syndromes.

Reporting Name

Hereditary Thyroid Cancer Panel

Specimen Type

Varies

Specimen Minimum Volume

Whole blood: 1 mL; Saliva: See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

An interpretive report will be provided.

Day(s) Performed

Varies

Report Available

14 to 21 days

Specimen Retention Time

Whole blood: 2 weeks (if available); Saliva: 1 month; Extracted DNA: 3 months

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81201

81321

81406

81351

81479

81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
THYRP Hereditary Thyroid Cancer Panel In Process

 

Result ID Test Result Name Result LOINC Value
614863 Test Description 62364-5
614864 Specimen 31208-2
614865 Source 31208-2
614866 Result Summary 50397-9
614867 Result 82939-0
614868 Interpretation 69047-9
614869 Resources 99622-3
614870 Additional Information 48767-8
614871 Method 85069-3
614872 Genes Analyzed 48018-6
614873 Disclaimer 62364-5
614874 Released By 18771-6