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,
Summary Recommended panel testing at Breda Genetics for this condition: Stargardt disease (ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, PROM1, PRPH2, RP1L1, RPGR, TIMP3, RIMS1) Stargardt disease is the most common form of inherited juvenile macular degeneration. Decreased central vision with decreased color perception is a hallmark of Stargardt disease, whereas side vision is usually preserved.
Recommended panel testing at Breda Genetics for this condition: Amyotrophic lateral sclerosis (ALS2, ANG, ANXA11, ATXN2, C9orf72, CHCHD10, CHMP2B, CHGB, DCTN1, ERBB4, FIG4, FUS, HNRNPA1, KIF5A, MATR3, NEFH, NEK1, OPTN, PFN1, PRPH2, SETX, SIGMAR1, SOD1, SPG11, SPG20, SQSTM1. TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP, VEGFA) Summary Amyotrophic lateral sclerosis (ALS) is a complex multifactorial neurodegenerative disorder
WE FIND MUTATIONS
©2022 All right reserved Breda Genetics – Single member limited liability company, Share Capital: 10,000.00 € f.p., REA: BS – 559902, VAT Number and Tax Code: IT03749940981
We regularly send specific information for Patients and Professionals with updates and news.
No Spam, that's information.
