Module overview
Section 5 of 6 · Open sections

Required section · Section 5 of 6

Choose the defensible disposition

Use the first collection to separate an analyzable result from a QNS specimen. The 48 mmol/L right-arm result is intermediate and needs repeat sweat testing. The 9-microliter left-arm specimen has no chloride result because it did not meet the collection minimum. The correct first laboratory action is to report both dispositions accurately and support repeat evaluation.

Now consider the contrast branch. If repeat adequate sweat chlorides are 34 and 38 mmol/L and only one CF-causing variant is confirmed, the pattern meets the CRMS or CFSPID definition rather than confirming CF. CFF 2024 guidance includes repeat sweat testing at 6 months and then at least annually to age 8, with genetic follow-up such as phasing and sequencing as indicated. A variant classification alone does not supply a diagnosis.

Two variants matter differently when they are in trans, on opposite chromosome copies, than when they are in cis. Phasing can require parental or other family testing; the laboratory reports the observed evidence and routes intermediate or discordant results through the established CF-center and genetic follow-up pathway.

Illustrative drawing — this picture was drawn rather than captured.

Decision diagram starts with positive newborn screen and adequate 48 mmol/L intermediate sweat chloride, then directs repeat sweat testing and extended CFTR analysis. One branch has 62 and 65 mmol/L plus two CF-causing variants in trans; the other has 34 and 38 mmol/L with one confirmed CF-causing variant and indicates CRMS or CFSPID follow-up.
Figure 1Intermediate sweat chloride requires repeat evidence; a different repeat pattern can support CF or CRMS/CFSPID follow-up.

Ordering exercise

Place the laboratory actions in the defensible order after the day-24 collections.

  1. 1. Support repeat sweat testing and extended CFTR evaluation

    An intermediate result does not establish or exclude CF.

  2. 2. Release the adequate 48 mmol/L result with its category

    Report method, units, adequacy, and intermediate interpretation.

  3. 3. Check each collection against the validated minimum

    Confirm volume or weight separately for each body-site collection.

  4. 4. Report the 9-microliter collection as QNS

    Do not analyze or pool the below-minimum left-arm specimen.

Knowledge checks

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Knowledge check 1

In the contrast branch, repeat chlorides are 34 and 38 mmol/L and only one CF-causing variant is confirmed. Which classification is supported?

Choose one option.

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