LOSS OF MOTOR CONTROL Breda Genetics panel testing recommended for this condition (EXOME PANEL): Episodic ataxias and their differential diagnosis (ARG1, ASL, ASS1, BCKDHA, BCKDH, CACNA1A, CACNB4, CPS1, DBT, DLD, IVD, KCNA1, KCNQ2, OTC, PDHA1, PNKD, SLC6A19, SNC2A, SLC1A3) Clinical variability Episodic ataxia (EA) is an inherited disease that leads to occasional loss of motor control (i.e. poor coordination
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,
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.
