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Table 2 Clinical services available to patients with Rare Diseases in Chile

From: Rare diseases in Chile: challenges and recommendations in universal health coverage context

NameDisease(s) or testsTarget PopulationCoverage
Laboratory diagnostic confirmation (FONASA): Karyotype and single probe FISH [29]• Congenital anomalies
• Cognitive disabilities
• Recurrent miscarriage and others
Individuals with suspected chromosomal abnormalitiesTesting 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 abnormalitiesTesting 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 abnormalitiesTesting 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 genesIndividuals with suspected monogenic conditions due to pathogenic or likely pathogenic variants in known genesTesting price, according to public or private insurance.