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Category 6 - PATHOLOGY SERVICES
PN.7.18
Targeted carrier testing for severe monogenic conditions - MBS item 73453
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
Related Items
Category 6 - PATHOLOGY SERVICES
73453 - Additional Information
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)
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- Assist - Addition/Deletion of (Assist.)
- Amend - Amended Description
- Anaes - Anaesthetic Values Amended
- Emsn - EMSN Change
- Fee - Fee Amended
- Renum - Item Number Change (renumbered)
- New - New Item
- NewMin - New Item (previous Ministerial Determination)
- Qfe - QFE Change