Document ID: chunk:federal_register_of_legislation:F2025C00183:clause:1_73453
Version: federal_register_of_legislation:F2025C00183
Segment Type: clause
Provision Reference: sch 1 cl 73453
Character Range: 387428–389301

73453              Characterisation of germline pathogenic or likely pathogenic gene variants:                                                                                                                                                                                                                                                                                                                                                                                                                                                                                          425.00
                   (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