Confirmation of suspected clinical diagnosis of multiple endocrine neoplasia type A or B, Hirschsprung disease, or congenital central hypoventilation syndrome in patients with a suspected diagnosis of any of these conditions
Immediately after collection, mix tube thoroughly by gentle inversion to prevent clotting.
Submit specimen, unspun, in original tube.
Lavender (EDTA), 4mL
Yellow ACD (A or B)
Yellow ACD (A or B)
Ambient (preferred)
Refrigerated (OK)
Specimen preferred to arrive at Mayo within 96 hours of collection.
Polymerase Chain Reaction (PCR) Amplification followed by DNA Sequencing
An interpretive report will be provided