View Associated Notes
Category 6 - PATHOLOGY SERVICES
73300 - Additional Information
Detection of mutation of the FMR1 gene where:
(a) the patient exhibits intellectual disability, ataxia, neurodegeneration, or premature ovarian failure consistent with an FMRI mutation; or
(b) the patient has a relative with a FMR1 mutation
1 or more tests
Fee: $101.30 Benefit: 75% = $76.00 85% = $86.15
(See para PN.0.23, PN.7.16 of explanatory notes to this Category)
Associated Notes
Category 6 - PATHOLOGY SERVICES
PN.0.23
Informed consent and genetic counselling for genetic tests
Items 73297, 73300, 73305, 73334, 73339, 73340, 73393, 73394, 73417, 73418, 73440, 73441, 73442, 73443, and 73444
Prior to ordering these tests the ordering practitioner should ensure the patient (or approximate proxy) has given written informed consent. Testing should only be performed after genetic counselling. Appropriate genetic counselling should be provided to the patient either by the specialist treating practitioner, a genetic counselling service or a clinical geneticist on referral. Further counselling may be necessary upon receipt of the test results.
Items 73295, 73296, 73304, 73333, 73392, 73395, 73416 and 73419
Patients who are found to have any form of affected allele should be referred for post-test genetic counselling as there may be implications for other family members. Appropriate genetic counselling should be provided to the patient either by the specialist treating practitioner, a genetic counselling service or a clinical geneticist on referral.
Related Items: 73295 73296 73297 73300 73304 73305 73333 73334 73339 73340 73392 73393 73394 73395 73416 73417 73418 73419 73440 73441 73442 73443 73444
Category 6 - PATHOLOGY SERVICES
PN.7.16
Reproductive carrier testing for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome - MBS items 73451 and 73452
MBS items 73451 and 73452
Fragile X syndrome (FXS) is inherited in an X-linked dominant fashion.
The sex chromosomal pattern of a patient determines the likelihood of being a genetic carrier of FXS and the risk of FXS carriers passing on a variant(s) in the FMR1 gene that would cause their child to be born with the condition. Patients with certain sex chromosomal patterns have no risk of influencing whether their child is born with FXS, regardless of whether they are a carrier of the condition.
The intent of MBS item 73451 is to test a patient who:
(a) is either planning a pregnancy or is already pregnant; and
(b) if found to be a genetic carrier of fragile X syndrome, is at risk of passing on a variant(s) in the FMR1 gene that would cause their child to be born with the condition
The intent of MBS item 73452 is to test a patient who:
(a) is the reproductive partner of the patient planning pregnancy or already pregnant tested under item 73451.
(b) is not at risk of passing on a variant(s) in the FMR1 gene that would cause their child to be born with fragile X syndrome, regardless of whether they are a genetic carrier of the condition
The patient who is planning pregnancy or already pregnant must be tested first under MBS item 73451 prior to testing the reproductive partner patient under MBS item 73452, to ensure an informative and clinically relevant test result is obtained in the FMR1 gene.
MBS item 73451
The laboratory used to undertake reproductive carrier testing under item 73451 should use a methodology appropriate to the clinical setting with:
(a) sufficient diagnostic range and sensitivity to detect at least 95% of pathogenic variants likely to be present in the patient; and
(b) at least 50 of the most frequently encountered cystic fibrosis transmembrane conductance regulator variants in the Australian population.
Related Items: 73300 73305 73345 73346 73347 73348 73349 73350 73451 73452
Legend
- 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