Mutations in the PMP22 gene cause several forms of a neurological disorder called Charot-Marie-Tooth disease.
This disorder damages the peripheral nerves, which can result in loss of sensation and wasting (atrophy) of muscles in the feet, legs and hands.
Immediately following collection, mix sample thoroughly by gently inverting 8 - 10 times to prevent clotting
Lavender (EDTA), 4mL
Ambient (preferred) - 5 days
Refrigerated - 5 days
Frozen - NO
Multiplex ligation-dependent probe amplification (MLPA)
An interpretive report will be included