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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

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.