Lysosomal acid lipase deficiency (Wolman disease and CESD)

Recommended panel testing at Breda Genetics for this condition: Lysosomal acid lipase deficiency (Wolman/CESD) and its differential diagnosis (LIPA, SMPD1, GBA, LDLR, APOB, PCSK9, LDLRAP1). Summary Lysosomal acid lipase deficiency is caused by homozygous or compound heterozygous mutation in the LIPA gene. Lysosomal acid lipase deficiency is predominantly a pediatric disease, although milder forms of […]

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Myocardial infarction, familial

Recommended panel testing at Breda Genetics for this condition: Myocardial Infarction, familial (ABCG5, ABCG8, APOE, LRP6, LDLR, APOB, PCSK9, ACTC1, CALR3, CAV3, CSRP3, GLA, JPH2, LAMP2, LIPA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, PLN, PRKAG2, SLC25A4, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL) Summary Cardiovascular disease is the leading cause of death in […]

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