Polyposis Syndromes (FAP, MAP)
APC and MUTYH testing for patients with disorders associated with polyposis (Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP)) and familial cases.
Familial Autosomal Dominant Hypercholesterolemia (FH)
LDLR, APOB and PCSK9 testing for patients with familial autosomal dominant hypercholesterolemia and familial cases.
Hereditary Amyloidosis
TTR gene testing for Hereditary Amyloidosis (germline DNA testing) and optional testing for other Hereditary Amyloidosis genes
Y-Chromosome Microdeletion Testing (AZF)
Y-Chromosome Microdeletion testing for patients with male infertility.
Beckwith-Wiedemann and Silver-Russell syndromes (BWS/SRS)
Methylation and copy number analysis for BWS and SRS testing.