Clinical Indication ID & Name
Fetus with a likely chromosomal abnormality
Test Group
Core
Specialties
Test code
R22.1
Test name
N/A
Target genes
Genomewide
Test scope
n/a
Test method/ technology
Common aneuploidy testing
Optimal Family Structure
n/a
Eligibility Criteria
Fetus with a likely chromosomal abnormality
This indication is relevant in ongoing pregnancies and where there has been fetal loss, termination of pregnancy or miscarriage
Test code
R22.2
Test name
N/A
Target genes
Genomewide
Test scope
n/a
Test method/ technology
Microarray
Optimal Family Structure
n/a
Eligibility Criteria
Fetus with a likely chromosomal abnormality
This indication is relevant in ongoing pregnancies and where there has been fetal loss, termination of pregnancy or miscarriage
Commissioning group
Core
Overlapping idications
• R26 Likely common aneuploidy should be used where only common aneuploidy testing is indicated • R21 Fetal anomalies with a likely genetic cause test should be used instead following discussion with a Clinical Geneticist where it is considered more appropriate • R318 Recurrent miscarriage with products of conception available for testing can be used where there has been recurrent miscarriage in the absence of additional features suggestive of chromosomal abnormality
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