What Can Be Learned From This Test
Testing is performed by sequencing the entire coding region of NKX2-1. This will detect point mutations, small deletions and small insertions. Copy number analysis will be performed to detect a whole or partial gene deletion, since deletions of the entire NKX2-1 gene have been reported in affected individuals.
NKX2-1 is the only gene known to be associated with these specific disorders. However, a negative test result does not rule out a genetic cause of early onset chorea or congenital hypothyroidism. There are other genes associated with other types of movement disorders, as well as other hypothyroid disorders.
Draw 2ml–4ml of blood in EDTA/purple-top tube (minimum of 1ml–2ml for infants).
Turnaround time: 10-14 business days
CPT Codes and Cost
Full Gene Sequencing & Deletion Testing
Known Variant Testing