Medicare Benefits Schedule - Item 73348

Search Results for Item 73348

View Associated Notes

Category 6 - PATHOLOGY SERVICES

73348

73348 - Additional Information

Item Start Date:
01-Jul-2018
Description Updated:
01-Jan-2020
Schedule Fee Updated:
01-Jul-2018

Group
P7 - Genetics

Testing of a patient with a laboratory-established family history of pathogenic cystic fibrosis transmembrane conductance regulator variants, for the purpose of determining whether the patient is an asymptomatic genetic carrier of the pathogenic cystic fibrosis transmembrane conductance regulator variants that have been laboratory established in the family history, not being a service associated with a service to which item 73345, 73347, or 73349 applies.

The patient must have a positive family history, confirmed by laboratory findings of pathogenic cystic fibrosis transmembrane conductance regulator variants, with a personal risk of being a heterozygous genetic carrier of at least 6%. (This includes family relatedness of: parents, children, full-siblings, half-siblings, grand-parents, grandchildren, aunts, uncles, first cousins, and first cousins once-removed, but excludes relatedness of second cousins or more distant relationships).

Fee: $250.00 Benefit: 75% = $187.50 85% = $212.50

(See para PN.7.3, PN.7.16 of explanatory notes to this Category)


Associated Notes

Category 6 - PATHOLOGY SERVICES

PN.7.3

Cystic fibrosis gene testing

(1) For any particular patient, item 73345, 73347, 73348 and 73349 is applicable not more than once in a lifetime.

(2) For any particular patient, item 73346 and 73350 is applicable not more than once in a pregnancy.

(3) The testing laboratory used to undertake tests for items 73345, 73346, 73347, 73348, 73349 and 73350 must use a cystic fibrosis transmembrane conductance regulator methodology appropriate to the clinical setting with:

                (a) sufficient diagnostic range and sensitivity to detect at least 95% of pathogenic cystic fibrosis transmembrane conductance regulator variants likely to be present in the patient; and

                (b) with at least 25 of the most frequently encountered cystic fibrosis transmembrane conductance regulator variants in the Australian population. 

Related Items: 73345 73346 73347 73348 73349 73350

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