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Testing of a patient (who is pregnant or planning pregnancy) to identify carrier status for pathogenic or likely pathogenic variants in a gene mentioned in paragraph (a), (b) or (c), to determine:

(a) for the cystic fibrosis transmembrane conductance regulator (CFTR) gene—reproductive risk of cystic fibrosis;

(b) for the survival motor neuron 1 (SMN1) gene—reproductive risk of spinal muscular atrophy;

(c) for the fragile X messenger ribonucleoprotein 1 (FMR1) gene—reproductive risk of fragile X syndrome;

(other than a service associated with a service to which item 73300, 73305, 73345, 73346, 73347, 73348, 73349 or 73350 applies)

One test per lifetime

Fee: $400.00 Benefit: 75% = $300.00 85% = $340.00

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

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