Sponsored diagnostic testing programs for Thymidine Kinase 2 Deficiency (TK2d)
Thymidine kinase 2 deficiency (TK2d) is a rare mitochondrial disorder that impairs the maintenance of mitochondrial DNA, leading to progressive muscle weakness and respiratory involvement. Symptoms often begin in infancy or childhood and may include motor delays, feeding difficulties, and loss of mobility. Because clinical features can overlap with other neuromuscular conditions, genetic testing plays an important role in confirming the diagnosis.
2 programs found for Thymidine Kinase 2 Deficiency (TK2d)
This program provides no-cost single-gene TK2 testing for U.S. patients with clinical signs suggestive of TK2 deficiency. Providers can order testing, request blood-collection kits, and submit samples to PreventionGenetics. Results are typically available in about 21 days, supporting diagnosis, prognosis, and care decisions for neuromuscular mitochondrial disorders.
This program offers no-cost access to a 55-gene panel for patients with symptoms that may indicate TK2 deficiency (TK2d), mitochondrial DNA depletion syndromes (MDS), or LGMD-like presentations with unclear etiology. Because TK2d can clinically overlap with both MDS and LGMD, this broader panel supports efficient evaluation across these disorders. Testing is available at no cost for eligible U.S. patients.
