Analysis

1.

2.

3.

4.

5.

* Constitutional: only where prospective EQA and limited analysis available. Haematological: minor clone missed

Interpretation – components of a report

1. Correlation with referral reason/clinical indication
2. Report states that the karyotype is indicative of/consistent with syndrome or disease indication, if applicable.
3. Follow up as necessary for complete interpretation of the case, e.g. parental bloods, peripheral blood for molecular analysis/bone marrow, if applicable.
4. Give limitations of test result, if applicable, e.g. normal result on a PWS.
5. Prognostic indication of risk, e.g. PND future pregnancies, risk of miscarriage if known. If risk calculation is done by clinical geneticist then the laboratory should submit the clinical geneticist’s letter with its cytogenetic report.
   Risk figures appropriate for the situation (do not have to be specific). For haematological cases, no prognosis indication should be given on single case studies but prognosis is acceptable if determined from a large clinical trial
6. Onward referral to clinical geneticist as applicable
7. For European EQA. Penalty if don’t follow EU guidelines
   No agreement to follow EU guidelines for national EQA schemes (optional).

Last changed: 2008-09-11