At diagnosis | Follow-up | |
Polysomnography (including endogenous and exogenous gas challenges) | X | 0 to 3 years: Every 6 months 3 years and older: At least annually |
Echocardiogram | X | 0 to 3 years: Every 6 months 3 years and older: At least annually |
Hemoglobin, hematocrit, reticulocytes, blood gas including HCO3 | X | 0 to 3 years: Every 6 months 3 years and older: At least annually |
Electrocardiography (72-hour continuous monitoring) | X | 0 to 3 years: Every 6 months 3 years and older: At least annually |
Neurocognitive testing | X | 0 to 3 years: Every 6 months 3 years and older: Annually |
Neural crest tumor surveillance | ||
NPARM mutations: Chest and abdominal imaging, urine catecholamines (for neuroblastoma) | X | 0 to 2 years: Every 3 months 2 to 7 years: Every 6 months |
Long PARM mutations (20/28 and longer): Chest and abdominal imaging (for ganglioneuromas and ganglioneuroblastomas) | X | Annually |
Short PARM mutations (20/24, 20/25, 20/26, or 20/27) | Not required | Not required |
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