Testing Criteria
Possible structural chromosomal rearrangement requiring karyotype or targeted chromosome analysis (TCA) including one of the following:
1. Possible Robertsonian translocation, reciprocal translocation, ring chromosome or other microscopically visible structural rearrangement indicated by findings from microarray, WGS or other laboratory technique. [TCA]

2. Recurrent miscarriage (defined as three or more miscarriages) [karyotype]:
• where testing of the pregnancy loss has not been possible due to an unsuitable/failed sample e.g. no fetal material/MCC/fixed in formalin, and no previous losses have been successfully tested and reported.
Note that although parental karyotype analysis is available following a failed test, this is of limited utility and the most informative pathway is to test any subsequent pregnancy loss.
• with five or more pregnancy losses where none of the previous losses has been successfully tested and reported e.g. biochemical pregnancies, no products available for testing

3. Known familial rearrangement or a family history suggestive of familial balanced translocation. [TCA/Karyotype as appropriate]
4. Unexplained infertility prior to infertility treatment. [karyotype]
5. Patient with ambiguous genitalia potentially caused by a sex chromosome rearrangement not detectable via other tests. [TCA]
6. Egg/sperm donors prior to acceptance. [karyotype]
7. Possible sex chromosome structural rearrangement or sex chromosome aneuploidy (mosaicisim) for example Turner, variant Turner, mosaic Turner syndrome. [TCA]

To note: Application of either karyotype or Targeted Chromosome Analysis (TCA) will be directed by professional judgement, best practice recommendation, clinical context and/or the type of cytogenetic rearrangement(s) detected. Due to the nature of cytogenetic analysis, reportable cytogenetic incidental findings may be detected during TCA.