Maple syrup urine disease

Panel testing recommended at Breda Genetics for this condition: Maple syrup urine disease (BCKDHA, BCKDHB, DBT, DLD) Summary Maple syrup urine disease (MSUD) is an autosomal recessive rare genetic disease caused by a defect in the branched-chain alpha-keto acid dehydrogenase enzyme (BCKAD), which represents the key step in the catabolism of branched-chain amino acids. The classic form is […]

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Dyskeratosis congenita

Panel testing recommended at Breda Genetics for this condition: Congenital dyskeratosis and differential diagnosis (ACD, CTC1, DKC1, NHP2, NOP10, PARN, POT1, RETL1, SNORD118, TERC, TERT, TINF2, WRAP53) Summary Dyskeratosis congenita (DC), also called Zinsser-Cole-Engman syndrome, is a multisystem disorder due to telomere loss. All affected individuals have a telomeric shortening increased in relation to age. The disease […]

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Parkinson disease

Panel testing recommended at Breda Genetics for this condition: Parkinsons disease (ADH1C, ATP13A2, ATP1A3, ATP6AP2, ARSD, CHCHD2, CSF1R, DCTN1, DNAJC6, EIF4G1, FBXO7, FTL, GBA, GCH1, GIGYF2, HTRA2, LRRK2, MAPT, PARK2, PARK7, PDXK, PINK1, PLA2G6, POLG, PRKRA, SLC6A3, SNCA, SNCAIP, SNCB, SYNJ1, TAF1, TH, UCHL1, VPS13C, VPS35) Parkinson disease (PD) is the second most common neurodegenerative […]

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