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, 8 - 10 times, to prevent clotting
Lavender (EDTA), 4mL
Yellow ACD (A or B)
Immediately after collection, mix tube thoroughly by gentle inversion, 8 - 10 times, to prevent clotting
Yellow ACD (A or B)
Ambient (preferred) - 4 days
Refrigerated (OK)
Specimen preferred to arrive at Mayo within 96 hours of collection.
Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
An interpretive report will be provided