Spinocerebellar ataxias: genetic subtypes

Spinocerebellar ataxias are a group of clinically and genetically heterogeneous disorders. We list below an update on all genetic subtypes, including the most recently identified ones, based on mode of inheritance (Table 1: autosomal dominant; Table 2: autosomal recessive; Table 3: X-linked). Chromosomal locus, gene, mutational spectrum and testing methods are given. Because of significant […]

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Retinitis pigmentosa

Panel testing recommended at Breda Genetics for this condition: Retinitis pigmentosa, classic (ABCA4, AIPL1, ARL6, BBS2, BEST1, C2ORF71, C8ORF37, CA4, CDHR1, CERKL, CLRN1, CNGA1, CNGB1, CRB1, CRX, CYP4V2, DHDDS, EYS, FAM161A, FSCN2, GUCA1B, HGSNAT, IDH3B, IMPDH1, IMPG2, IFT172, KIZ, KLHL7, LRAT, MAK, MERTK, NEK2, NR2E3, NRL, OFD1, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRPF3, PRPF31, PRPF4, […]

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