Clinical Indication ID & Name
Parental sequencing for lethal autosomal recessive disorders
Test Group
Specialised
Specialties
Test code
R312.1
Test name
N/A
Target genes
Relevant panel(s) in PanelApp
Test scope
n/a
Test method/ technology
WES or Large penel
Optimal Family Structure
n/a
Eligibility Criteria
1. Lethal disorder with likely autosomal recessive inheritance in which there is limited or no DNA from the deceased individual, AND
2. Both parents are available for testing
Test code
R312.2
Test name
N/A
Target genes
Relevant panel(s) in PanelApp
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
1. Lethal disorder with likely autosomal recessive inheritance in which there is limited or no DNA from the deceased individual, AND
2. Both parents are available for testing
Commissioning group
Other
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
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form