Medicare Benefits Schedule - Note PN.7.18

Where the couple is already pregnant and both patients are of Ashkenazi Jewish descent, concurrent testing of any partner(s) not already tested is recommended.

Related Items: 73453

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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

Fee: $425.00 Benefit: 75% = $318.75 85% = $361.25

(See para PN.7.18 of explanatory notes to this Category)