CE marked products (IVD)
Product NameApplicationRegion
P002-BRCA1CE Hereditary breast cancer (BRCA1) BRCA1 17q21.31
P003-MLH1/MSH2CE Lynch Syndrome MLH1 3p22.2, MSH2 2p21
P016-VHLCE Von Hippel-Lindau Syndrome VHL, 3p25
P018-SHOXCE Idiopathic growth retardation SHOX-Xp22
P033-CMT1CE Charcot-Marie Tooth disease (CMT1), Hereditary Neuropathy with liability to Pressure Palsies (HNPP) CMT1/HNPP region, 17p12
P034-DMD-1CE Duchenne Muscular Dystrophy (DMD) DMD, Xp21.2
P035-DMD-2CE Duchenne Muscular Dystrophy (DMD) DMD, Xp21.2
P036-Subtelomeres Mix 1CE Subtelomeric testing All subtelomeres
P041-ATM-1CE Ataxia-Telangiectasia (AT) ATM 11q23
P042-ATM-2CE Ataxia-Telangiectasia (AT) ATM 11q23
P045-BRCA2/CHEK2CE Breast cancer, hereditary BRCA2, CHEK2
P055-PAHCE Phenylketonuria PAH 12q23.2
P060-SMACE Spinal Muscular Atrophy (SMA) SMN1, SMN2, 5q13
P062-LDLRCE Hypercholesterolemia, familial LDLR 19p13.2
P069-Subtelomeres Mix 2ACE Subtelomeric testing All subtelomeres
P070-Subtelomeres Mix 2BCE Subtelomeric testing All subtelomeres
P090-BRCA2CE Breast cancer, hereditary BRCA2 13q13.1
P091-CFTRCE Cystic Fibrosis CFTR 7q31.2
P095-AneuploidyCE Down syndrome, Edwards syndrome, Patau syndrome Chr. 13, 18, 21, X, Y
P140-HBACE Thalassemias, Alpha HBA 16p
P245-Microdeletion Syndromes1ACE Microdeletion syndromes Various
P250-DiGeorgeCE DiGeorge syndrome 22q11
P405-CMT1CE Charcot Marie Tooth Disease CMT/HNPP region at 17p12
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