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Early identification of these variants enables greater diagnostic precision, therapeutic stratification, and long-term patient management.
Genuvi has developed a robust Comprehensive Thyroid Genetic Panel of 59 genes, designed to elucidate the molecular basis of both hereditary and sporadic thyroid diseases. This panel is clinically validated to detect single nucleotide variants (SNVs) and small indels in critical coding and flanking intronic regions, providing actionable insights across a wide spectrum of endocrine and oncologic presentations.
Genetic testing plays a transformative role in the management of thyroid disease.
Hereditary pathogenic variants may cause congenital hypothyroidism, thyroid hormone resistance, thyroid dysgenesis, autoimmune predispositions, and neoplasms, including medullary and papillary thyroid carcinomas.
Molecular diagnosis enables personalized treatment, risk-reduction interventions, and cascade family testing.
Clinical indications for testing include:
Neonatal or early-onset hypothyroidism or hyperthyroidism
Unexplained thyroid hormone resistance syndromes
Indeterminate or suspicious thyroid nodules on cytology (Bethesda III/IV)
Personal or family history of differentiated or medullary thyroid carcinoma
Suspected multiple endocrine neoplasia (MEN) or autoimmune polyglandular syndromes
This panel evaluates 59 genes selected based on evidence-based clinical utility, inclusion in professional guidelines, and relevance to thyroid hormone biosynthesis, organogenesis, oncogenesis, and immune regulation.
It includes high-penetrance tumor suppressors, transcriptional regulators, membrane transporters, and hormone receptor components.
Covered Genes: 59 clinically validated genes
Analytical Sensitivity: >99% of target regions at sequencing depth >20x
Turnaround Time: 10–14 calendar days
Methodology: Targeted hybrid capture and high-throughput Illumina sequencing
Variant Interpretation: Curated according to ACMG/AMP guidelines using Fabric Enterprise™ Pipeline 6.6.15; multidisciplinary review by clinical geneticists and molecular pathologists
Reporting: Includes pathogenic and likely pathogenic variants with clinical annotations and management recommendations
Individuals with congenital hypothyroidism or abnormal newborn screening results
Patients with refractory thyroid disorders or abnormal hormonal profiles
Subjects with a family history of thyroid cancer or MEN2-related syndromes
Individuals undergoing evaluation for nodular thyroid disease with indeterminate FNA results
Relatives of individuals with known pathogenic thyroid-associated variants
The integration of genetic testing into thyroid disease management has ushered in a new era of precision endocrinology. By enabling a deeper understanding of the genetic contributions to thyroid function and pathology, Genuvi’s Comprehensive Thyroid Genetic Panel serves as a crucial tool for personalized risk assessment, targeted intervention, and improved clinical outcomes. Clinicians are empowered to deliver informed care that anticipates disease progression, minimizes uncertainty, and supports proactive family-based medicine.
The Thyroid Panel is designed to detect SNVs and small insertions/deletions in 59 genes relevant to thyroid pathology. The assay targets coding exons and adjacent intronic sequences within ±10 base pairs. Genomic DNA is enriched using hybrid capture methods and sequenced with Illumina’s sequencing-by-synthesis (SBS) technology. Bioinformatic analysis is performed using Fabric Enterprise™ Pipeline 6.6.15, aligned to the human genome build GRCh37. Variant classification follows ACMG/AMP criteria. Review and reporting are conducted by Fabric Clinical (CLIA ID: 45D2281059; CAP ID: 9619501). Filters applied include: quality <500, allelic balance <0.3, coverage <10x.
APC, CHEK2, DICER1, DUOX2, DUOXA2, FOXE1, GLIS3, GNAS,HESX1, IGSF1, IRS4, IYD, KDM6A, KMT2D, NKX2-1, NKX2-5, OTX2, PAX8, POU1F1,PRKAR1A, PROP1, PTEN, RET, SLC16A2, SLC26A4, SLC26A7, SLC5A5, TBL1X, TG, THRA,THRB, TP53, TPO, TRHR, TSHB, TSHR, UBR1, WRN, ATP1A2, CACNA1A, CST3, CSTB,CTNNB1, G6PD, GLIS3, HAMP, HFE, HRAS, KRAS, MECP2, NRAS, PIK3CA, PLCG2, PLN, SECISBP2, SLC40A1, TfR2, TGFBI, TTR
Test Limitations:
This assay is limited to the detection of SNVs and small indels in the targeted exonic and flanking intronic regions. It does not reliably detect large genomic deletions or duplications, structural variants, repeat expansions, mitochondrial mutations, or low-level mosaicism. Variants outside the targeted regions, including promoter/enhancer elements, may not be detected. Interpretation is based on current scientific knowledge and may evolve with new evidence.
Regulatory Disclosures:
This laboratory-developed test (LDT) was validated by Genuvi and is performed in their CLIA-certified and CAP-accredited laboratory (CLIA ID: 10D2210020; CAP ID: 9101993). This assay has not been reviewed by the FDA, as approval is not required for LDTs used in CLIA-certified clinical diagnostic laboratories.
For additional details, including full gene lists, ordering information, and interpretation support, please contact our molecular diagnostics team at [email protected]
or visit www.us.genuvilab.com
