Clinical Indication ID & Name
Laterality disorders and isomerism
Test Group
Respiratory
Specialties
Test code
R139.1
Test name
N/A
Target genes
Laterality disorders and isomerism (549)
Test scope
n/a
Test method/ technology
WES or Medium Panel
Optimal Family Structure
n/a
Eligibility Criteria
1. Classical heterotaxy affecting more than one body system, OR
2. Non-classical heterotaxy (an isolated heterotaxy-type malformation), OR
3. Combination of malformations which may occur in heterotaxy but which are not diagnostic of heterotaxy (e.g. oesophageal atresia with intestinal malrotation)
Test code
R139.2
Test name
N/A
Target genes
Laterality disorders and isomerism (549)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
1. Classical heterotaxy affecting more than one body system, OR
2. Non-classical heterotaxy (an isolated heterotaxy-type malformation), OR
3. Combination of malformations which may occur in heterotaxy but which are not diagnostic of heterotaxy (e.g. oesophageal atresia with intestinal malrotation)
Commissioning group
Specialised
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
n/a
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