Table 2.

Clinical services available to patients with Rare Diseases in Chile

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.