Test Directory
Browse our comprehensive catalog of genetic tests
Hereditary Thyroid cancer (13 genes)
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.
MultigeneMyopathies and neuromuscular disorders, comprehensive (219 Genes)
The Myopathies and Neuromuscular Disorders Panel (219 Genes) is a broad genetic test that looks at 219 genes linked to inherited muscle and nerve conditions. It covers muscular dystrophies, metabolic myopathies, neuromuscular junction disorders, motor neuron diseases, and peripheral neuropathies. These disorders can affect how muscles and nerves work together, often leading to symptoms such as muscle weakness, fatigue, pain, difficulty swallowing, or balance problems. Because onset can occur at any age, from infancy to adulthood, genetic testing helps clarify the cause, guide treatment, and support family counselling.
Multigene