Clinical Indication ID & Name
Possible structural chromosomal rearrangement - karyotype/Targeted Chromosome Analysis
Test Group
Core
Specialties
Test code
R297.1
Test name
N/A
Target genes
As determined by indication
Test scope
n/a
Test method/ technology
Karyotype
Optimal Family Structure
n/a
Eligibility Criteria
Possible structural chromosomal rearrangement requiring karyotype 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.
2. Recurrent miscarriage (defined as three or more miscarriages):
• 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. A family history suggestive of familial balanced translocation.
4. Unexplained infertility who are going to undergo infertility treatment.
5. Patient with ambiguous genitalia potentially caused by a sex chromosome rearrangement not detectable via other tests.
6. Egg/sperm donors prior to acceptance.
Commissioning group
Core
Overlapping idications
n/a
Address for samples/request forms
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection Samples may be rejected for the following reasons: 1. Samples and request form do not show at least three identical patient identifiers 2. The sample is in the incorrect collection media 3. The request form is not sufficiently completed 4. The sample is not of sufficient volume 5. The sample is too old