What a test can show
Sequencing and deletion/duplication analysis; phenotype, head circumference, skin findings and family history matter.
Monogenic conditions
PTENPTEN hamartoma tumour syndrome
Pathogenic germline variants are associated with hamartomas and increased risks of several cancers.
RELATIONSHIP VALIDITYHigh: established causality
ACTIONABILITYHigh after syndromic confirmation
SOURCE CHECKLinks and claim boundaries are editorially checked; external expert review is stated only with named disclosure
Practical meaning
A result may change organ-specific surveillance.
Where knowledge ends
Somatic PTEN loss in a tumour is not equivalent to a germline syndrome.
SOURCES AND VERSION
Verifiable, not ‘trust us’.
Updated: 14 August 2026. Any clinical interpretation requires the exact variant, testing method, family information and medical context.