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Test Code 12029
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No-Cost Genetic Testing Program for Thymidine Kinase 2 Deficiency

TK2

2 - 3 weeks

Test Criteria

Candidates for TK2 testing (Test 12029):

  • Patients with suspicious features of TK2 deficiency
  • Patient has not had previous genetic testing for TK2 (either as single gene or as part of any previous panel testing)

Candidates for larger panel testing (Test 12031) must have both criteria above for TK2 testing. In addition candidates must have:

  • Patient has not yet had previous testing for Limb Girdle Muscular Dystrophy or Mitochondrial Depletion Syndromes
  • Patient has clinical features suggestive of either Limb Girdle Muscular Dystrophy or Mitochondrial Depletion Syndrome
Specimen(s)

Whole blood, saliva, OCD-100 Buccal Swab

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