Test Code: PNL265
Hereditary Thyroid cancer (13 genes)
Multigene
Thyroid cancer is the most common endocrine malignancy, representing 1–3% of all new cancer diagnoses. While most cases are sporadic, 5–10% have a hereditary basis due to germline pathogenic variants. Thyroid cancer is classified into non‑medullary thyroid cancer (NMTC), which accounts for >95% of cases and may occur in syndromes such as Cowden, familial adenomatous polyposis, Gardner, Carney complex, Werner, and DICER1; and medullary thyroid cancer (MTC), which represents <5% of cases, with ~25% linked to inherited RET variants causing MEN2A or MEN2B. This panel detects germline pathogenic variants (via sequencing and deletion/duplication analysis) but is not designed for somatic tumor testing or mosaicism below 20%. Hereditary thyroid cancer syndromes often present before age 50, with multiple primary cancers, family clustering of thyroid, breast, or colon cancers, or associated features such as macrocephaly or abnormal pigmentation. Testing may be appropriate for individuals with suggestive personal or family history, including pediatric patients.
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
3 weeks days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
15 genes
AKT1
APC
CDC73
CHEK2
DICER1
MEN1
PIK3CA
PRKAR1A
PTEN
RET
SDHB
SDHD
SRGAP1
TP53
WRN
Methodology
Capture-based target enrichment and Next Generation Sequencing
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