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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Charcot-Marie-Tooth disease

Recommended panel testing at Breda Genetics for this condition: Charcot-Marie-Tooth neuropathy (AARS, ABHD12, AIFM1, ARHGEF10, ATP1A1, ATP7A, BAG3, BSCL2, CNTNAP1, COA7, COX6A1, DCTN1, DCTN2, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, JPH1, KARS, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MED25, […]

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