Characterisation of germline pathogenic or likely pathogenic gene variants: (a) in at least the following genes: (i) ASPA; (ii) BLM; (iii) CFTR; (iv) ELP1; (v) FANCA; (vi) FANCC; (vii) FANCG; (viii) FMR1; (ix) G6PC1; (x) GBA1; (xi) HEXA; (xii) MCOLN1; (xiii) SLC37A4; (xiv) SMN1; (xv) SMPD1; and (b) in a patient of reproductive age who is of Ashkenazi Jewish descent for the purpose of ascertaining the patient’s carrier status for the following: (i) Bloom syndrome (ii) Canavan disease (iii) Cystic fibrosis (iv) Familial dysautonomia (v) Fanconi anaemia type C (vi) Fragile-X syndrome (vii) Gaucher disease (viii) Glycogen storage disease type I (ix) Mucolipidosis type IV (x) Niemann-Pick disease type A 7 (xi) Spinal muscular atrophy (xii) Tay-Sachs disease Applicable once per lifetime