Clinical Indication ID & Name
Possible structural chromosomal rearrangement - karyotype
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 consecutive miscarriages) in whom testing of products of conception has not been possible.
Note: this should not be performed routinely nor retrospectively where products of conception have not been provided, but may be used in exceptional circumstances, detailed below;
• Where an attempt to provide pregnancy loss samples has been unsuccessful;
o unsuitable sample (eg. no fetal material/MCC)
o failed sample (eg. fixed in formalin)
• Where the intention has been to collect the next pregnancy loss but this has not been possible due to the nature of the loss
• Five or more biochemical pregnancy losses.
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
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
Rare Disese WGS Clinician pack
Education resources
n/a
Service updates
n/a
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form