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Suspect-and-test checklist

Gaucher disease

Autosomal recessive lysosomal disease. An enzyme blood test confirms it; a bone marrow biopsy is not routinely needed for diagnosis.

ICD-10-CME75.22Trial Friend for Clinicians

1Red flags present

Blood and spleen

Liver and gut

Bones and joints

Types 2 and 3, ancestry and family

2Already labeled as

3Family to test

4Testing, in the order the sources describe

  1. When to test earlyPer the 2011 consensus, a prudent first-line test in Ashkenazi Jewish patients with splenomegaly and cytopenia; should become mandatory before splenectomy for unexplained splenomegaly.
    Result
  2. Chitotriosidase, CCL18 or lyso-Gb1IWGGD first-line options. Normal chitotriosidase alone: exclude the CHIT1 duplication. Enzyme assay still needed.
    Result
  3. Dried blood spot glucocerebrosidaseFirst-line screen only. Low results always need leukocyte or fibroblast confirmation.
    Result
  4. Leukocyte glucocerebrosidase activityActivity of 0% to 15% of normal establishes the diagnosis. Fibroblasts after transfusion.
    Result
  5. GBA1 sequencingConfirms and names variants; GBAP1 pseudogene complicates panels. One or no variant: deletion/duplication.
    Result
  6. Bone marrow only for another questionNot routinely needed for diagnosis; aspirates miss cases and pseudo-Gaucher cells mislead.
    Result
  7. CYP2D6 genotype before CerdelgaFDA-cleared test; indication covers adults with type 1 disease who are extensive, intermediate or poor metabolizers.
    Result

5Results the sources say do not rule it out

  • No splenomegaly. It can be mild or absent, especially in older N370S homozygotes.
  • A normal dried blood spot result in a patient with suggestive symptoms.
  • A negative common-variant GBA1 panel. Full sequencing is recommended if suspicion is strong.
  • A marrow aspirate without Gaucher cells. False negatives are common on aspirate.

6Specialists the sources name

Diagnosis code: E75.22 Gaucher diseaseCodes patients often carry before diagnosis are listed in the online guide.
Full guide and sourcesEvery point here is sourced in the online guide, which also has a patient note to print.
Trial Friend, trialfriend.com/for-clinicians. Key sources: GeneReviews (2023); 2011 consensus algorithms; GED-C Delphi consensus (2019); GED-C scoring system validation (2020); GED-C real-world study (2024); IWGGD laboratory guidelines (2022); all 18 with links in the online guide. Checked November 9, 2026. A reference checklist for licensed clinicians that summarizes published sources. It is not a diagnostic tool, a score or a protocol, and it does not replace clinical judgment, local practice or the prescribing information. Not coding advice. Trial Friend never receives anything written or typed on this sheet.