Harmonizing genetic
testing across Europe
Guidelines and documents
Latest Guidelines
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Clinical utility gene card: Adrenoleukodystrophy (ALD) / Adrenomyeloneuropathy (AMN) [ABCD1]
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Clinical utility gene card: Angelman-Syndrome [UBE3A]
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Clinical utility gene card: Complete Androgen insensitivity (CAIS) [AR]
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Clinical utility gene card: Cranio-fronto-nasal syndrome (CFNS) [EFNB1]
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Clinical utility gene card: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1)
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Clinical utility gene card: Duchenne muscular dystrophy (DMD) [Dystrophin]
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Clinical utility gene card: Fragile X mental retardation syndrome [FMR1] Fragile X tremor/ataxia syndrome (FXTAS) [FMR1]
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Clinical utility gene card: Friedreich ataxia (FRDA) [FXN]
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Clinical utility gene card: HMSN/HNPP HMSN types 1,2,3,6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP.
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Clinical utility gene card: Huntington disease, Chorea Huntington [HD]
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Clinical utility gene card: Myotonic dystrophy type 1 (DM1) [DMPK]
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Clinical utility gene card: Non-obstructive azoospermia, severe oligozoospermia [AZFa, AZFb, AZFc]
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Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII
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Clinical utility gene card for: HNPCC/Lynch syndrome (MLH1, MSH2, MSH6, PMS2)
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Commission opinion on external samples for in-house assays
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IVD Directive
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