Histone-modification disorders

Recommended panel testing at Breda Genetics for this condition: Histone-modification disorders and their differential diagnosis (incl. Wiedemann-Steiner, Kabuki, Coffin-Siris, Nicolaides-Baraitser, and Cornelia de Lange syndromes) (ARID1A, ARID1B, HDAC8, NIPBL, KMT2A, KMT2D, KDM6A, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, RAD21) Summary Histone modification is a epigenetic mechanism by which more than 100 different post-translational modifications may occur at […]

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Albinism & Hermansky–Pudlak syndrome

Recommended panel testing at Breda Genetics for this condition: Albinism & Hermansky-Pudlak syndrome (AP3B1, BLOC1S3, BLOC1S6, C10ORF11, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, MC1R, MLPH, MITF, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1) What is the skin and hair color like? Oculocutaneous albinism is characterized by hypopigmentation of the skin and hair (including brows and lashes) and […]

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Leigh syndrome/NARP

Recommended panel testing at Breda Genetics for this condition: Leigh syndrome/NARP & their differential diagnosis (ADAR1, BCS1L, BTD, C12orf65, C20ORF7, C8ORF38, COX10, COX15, DLD, EARS2, ETHE1, FARS2, FOXRED1, GFM1, HIBCH, HLCS, LIAS, LIPT1, LRPPRC , MCEE, MMAA, MMAB, MMADHC,  MT-ATP6, MT-CO3, MTFMT, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, MT-TK, MT-TV, MT-TW, MUT, NDUFA1, NDUFA10, NDUFA11, […]

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