Q34-58: Laboratory Studies at Diagnosis

*Laboratory Studies at Diagnosis: The intent of questions 34 – 58 is to capture the laboratory values known at the time of diagnosis. If assessments were performed multiple times, report the values closest to the diagnosis date, prior to the first RBC and / or platelet transfusion.

Questions 34 – 43: Specify all findings at diagnosis (check all that apply)

Indicate if any of the listed laboratory values are known at the diagnosis (prior to the first RBC and/or platelet transfusion) of aplastic anemia – select all that apply.

Hemoglobin: If the hemoglobin value is known at the time of diagnosis of aplastic anemia, select this option, report the value and unit of measure documented on the laboratory report in question 35. Additionally, specify Yes or No if RBCs were transfused ≤ 30 days before the date of the reported hemoglobin value in question 36.

Transfusions temporarily increase the red blood cell count. It is important to distinguish between a recipient whose body is creating these cells and a recipient who requires transfusions to support the counts.

White blood cell (WBC): If the WBC value is known at the time of diagnosis of aplastic anemia, select this option and report the value and unit of measure documented on the laboratory report in question 37.

Absolute neutrophil count (ANC): If the ANC value is known at the time of diagnosis of aplastic anemia, select this option and report the value documented on the laboratory report in question 38.

At some institutions, laboratory reports do not display the ANC and it must be calculated from the white blood cell count (WBC) and the percent of segmented and band neutrophils (if the differential was performed on a machine, the percent neutrophils will include both segmented and band neutrophils). If your institution’s laboratory reports do not display the ANC value, use the following calculation to determine the ANC:

Calculating Absolute Neutrophil Count (ANC)

Platelets: If the platelet value is known at the time of diagnosis of aplastic anemia, select this option, report the value and unit of measure documented on the laboratory report in question 39. Additionally, specify Yes or No if platelets were transfused ≤ 7 days before the date of the reported platelet value in question 40.

Transfusions temporarily increase the platelet count. It is important to distinguish between a recipient whose body is creating the platelets and a recipient who requires transfusions to support the counts.

Absolute reticulocyte count (ARC): If the ARC value is known at the time of diagnosis of aplastic anemia, select this option, report the value documented on the laboratory report in question 41, and specify the method of measurement in question 42.

If the ARC was measured by both Manual and Automated methods, report the most recent value prior to the initiation of therapy.

Hemoglobin (Hb) F: If the Hb F value is known at the time of diagnosis of aplastic anemia, select this option and report the value documented on the laboratory report in question 43.

Question 44: Were cytogenetics tested? (FISH or Karyotyping)

Cytogenetics is the study of chromosomes. Cytogenetic assessment involves testing blood or bone marrow for the presence of known chromosomal abnormalities that reflect the recipient’s disease. Testing methods include conventional chromosome analysis (karyotyping) or fluorescence in situ hybridization (FISH). For more information about cytogenetic testing and terminology, see Appendix C, Cytogenetic Assessments.

Karyotyping is performed by culturing cells (growing cells under controlled conditions) until they reach the dividing phase. Techniques are then performed to visualize the chromosomes during cell division so that various bands and reconfigurations can be seen. Banding pattern differentiation and chromosomal reconfiguration demonstrate evidence of disease.

FISH is a sensitive technique that assesses a large number of cells. This technique uses special probes that recognizes and bind to specific fragments of DNA. These probes are mixed with cells from the recipient’s blood or bone marrow. A fluorescent “tag” is then used to visualize the binding of the probe to the disease cells.

Indicate whether cytogenetic studies were obtained at diagnosis. Do not report any testing performed after the treatment for aplastic anemia has started. If cytogenetic studies (karyotyping or FISH) were obtained at diagnosis, select Yes and continue with question 45. If cytogenetic studies were not obtained at diagnosis or it is unknown if chromosome studies were performed, select No or Unknown and continue with question 57.

Questions 45 – 46: Were cytogenetics tested via FISH?

If FISH studies were performed at diagnosis, report Yes and indicate whether abnormalities were identified.

Do not report any testing performed after the treatment for aplastic anemia has started.

If FISH studies were not performed or unknown if performed at diagnosis or the sample was inadequate, report No and continue with question 51.

Report chromosomal microarrays / chromosomal genomic arrays as FISH assessments.

!Warning: Question 47 is disabled and cannot be answered at this time.

Question 47 – 50: Specify cytogenetic abnormalities identified via FISH (check all that apply)

Report the ISCN compatible string, if applicable, in question 47.

Select all cytogenetic abnormalities identified at diagnosis by FISH in question 48 and indicate if the diagnostic FISH report is attached in FormsNet3^SM in question 50.

If an abnormality is detected but not listed as an option in question 48, select Other abnormality and specify the abnormality in question 49. If multiple other abnormalities were detected, report “see attached report” in question 49 and attach the final report(s) for any other abnormality detected. For instructions on how to attach documents in FormsNet3^SM, refer to the Training Guide.

Questions 51 – 52: Were cytogenetics tested via karyotyping?

If karyotyping was performed at diagnosis, report Yes and indicate whether abnormalities were detected. If the karyotype sample was inadequate or yielded no results, report No evaluable metaphases.

If karyotyping was not performed or unknown if performed at diagnosis, report No and continue with question 57.

Question 53 – 56: Specify cytogenetic abnormalities identified via conventional cytogenetics (check all that apply)

Report the ISCN compatible string, if applicable, in question 53.

Select all cytogenetic abnormalities identified at diagnosis by conventional cytogenetics in question 54 and indicate if the diagnostic karyotype report is attached in FormsNet3^SM in question 56.

If an abnormality is detected but not listed as an option in question 54, select Other abnormality and specify the abnormality in question 55. If multiple other abnormalities were detected, report “see attached report” in question 55 and attach the final report(s) for any other abnormality detected. For instructions on how to attach documents in FormsNet3^SM, refer to the Training Guide.

Questions 57– 58: Specify if a genetic panel was performed (screening for myeloid diseases)

A genetic panel is a standard panel of genes known to be associated with hematopoietic abnormalities. The intent of this assessment is to screen for myeloid diseases that resemble aplastic anemia (i.e., MDS). This assessment is typically a myeloid mutation panel. This report is usually labeled as a “Genetic Mutational Panel” within the EMR; however, this varies from institution to institution. If it is unclear if this assessment was performed, seek physician clarification.

Indicate whether a genetic panel was performed at diagnosis of aplastic anemia. If Yes, specify if a copy of the genetic panel is attached. For instructions on how to attach documents in FormsNet3^SM, refer to the Training Guide.

If a genetic panel was not performed or it is unknown if this assessment was performed at diagnosis of aplastic anemia, select No and continue with question 59.

Section Updates:

Question Number	Date of Change	Add/Remove/Modify	Description	Reasoning (If applicable)
34	4/21/2023	Modify	Clarified the instructions for the labs at diagnosis should reflect the labs closest to the date of diagnosis.	To ensure more consistent reporting, all labs for the “at diagnosis” timepoint were clarified to reflect the values obtained closest to the date of diagnosis, prior to the start of any therapy.

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