Infertility: genetic causes

Following the Wolrd Health Organization (WHO) definition, infertility is a “a disease of the reproductive system defined by the failure to achieve a clinical pregnancy after 12 months or more of regular unprotected sexual intercourse.” Whether infertility should be considered a disease should probably be a question of sensitivity and perception of each patient, as […]

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Niemann-Pick disease

Recommended panel testing at Breda Genetics for this condition: Niemann-Pick disease (NPC1, NPC2, SMPD1) Summary The eponym Niemann-Pick disease (NPD) encompasses two distinct metabolic defects. The first includes NPD types A and B and is due to deficiency of the acid sphingomyelinase (ASM) enzyme. The second defect, namely NPD type C, is mainly due to […]

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Microcephaly

Recommended panel testing at Breda Genetics for this conditions: Primary microcephaly (MFSD2A, STIL, SASS6, ASPM, KIF14, NCAPH, COPB2, CEP135, WDFY3, CENPE, CDK6, MCPH1, CDK5RAP2, NCAPD3, NCAPD2, PHC1, CIT, ANKLE2, CENPJ, KNL1, CEP152, WDR62, ZNF335) and/or Syndromic microcephaly [incl. Seckel syndrome, Meier-Gorlin syndrome, microcephalic dwarfism, lissencephaly and cortical dysplasia, hypomyelinating leukodystrophy, Aicardi-Goutières syndrome, mosaic variegated aneuploidy, […]

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