From: Rare diseases in Chile: challenges and recommendations in universal health coverage context
Name | Disease(s) or tests | Target Population | Coverage |
---|---|---|---|
Laboratory diagnostic confirmation (FONASA): Karyotype and single probe FISH [29] | • Congenital anomalies • Cognitive disabilities • Recurrent miscarriage and others | Individuals with suspected chromosomal abnormalities | Testing price, according to public or private insurance. |
Laboratory diagnostic confirmation (FONASA): MLPA [29] | • 22q11 microdeletion syndrome • Williams syndrome • Charcot-Marie-Tooth type 1A • Simpson-Golabi-Behmel syndrome • Coffin- Siris syndrome • X-linked ichthyosis • Other recurrent microdeletion and microduplication syndromes | Individuals with suspected sub microscopic chromosomal abnormalities | Testing price, according to public or private insurance. |
Laboratory diagnostic confirmation (FONASA): MS-MLPA [29] | • Prader–Willi syndrome • Angelman syndrome • Silver-Russell syndrome • Beckwith-Wiedemann syndrome | Individuals with suspected chromosomal methylation abnormalities | Testing price, according to public or private insurance. |
Laboratory diagnostic confirmation (FONASA): Sanger sequencing [29] | • Up to 5 amplicons for molecular confirmation of pathogenic/likely pathogenic single nucleotide variants in known genes | Individuals with suspected monogenic conditions due to pathogenic or likely pathogenic variants in known genes | Testing price, according to public or private insurance. |