Mitochondrial complex IV deficiency (cytochrome c oxidase deficiency)

Recommended panel testing at Breda Genetics for this condition: Mitochondrial complex IV deficiency – cytochrome c oxidase deficiency (APOPT1, C12ORF62, COA3, COA5, COA6, COX10, COX14, COX15, COX20, COX6B1, FARS2, FASTKD2, LRPPRC, MTCO1, MTCO2, MTCO3, MTTL1, MTTS1, PET100, POLG, SCO1, SCO2, SURF1, TACO1) Summary Mitochondrial complex IV deficiency (also known as cytochrome c oxidase – COX […]

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Anophthalmia and microphthalmia (isolated and syndromic)

Recommended panel testing at Breda Genetics for this condition: Anophthalmia, microphthalmia isolated/syndromic (ALDH1A3, ALX1, BCOR, BMP4, COX14, COA5, CHD7, COX6B1, CRYBA4, CRYBB2, CRYGD, DPYD, ERCC6, ESCO2, EYA1, FASTKD2, FOXE3, FOXL2, FRAS1, FREM1, FREM2, GDF3, GDF6, GJA1, GLI3, HCCS, HDAC6, HESX1, HMX1, IKBKG, ISPD, KERA, KIF11, MAF, MBTPS2, MFRP, NAA10, NDP, NHS, OCLN, OTX2, PAX2, PAX6, PHGDH, POMT1, […]

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