Clinical Indication ID & Name
Congenital myaesthenic syndrome
Test Group
Neurology
Specialties
Test code
R80.1
Test name
N/A
Target genes
Congenital myaesthenic syndrome (232)
Test scope
n/a
Test method/ technology
WES or Medium Panel
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features that indicate a likely monogenic congenital myaesthenia
Test code
R80.2
Test name
N/A
Target genes
Congenital myaesthenic syndrome (232)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features that indicate a likely monogenic congenital myaesthenia
Commissioning group
Highly Specialised
Overlapping idications
• R89 Ultra-rare and atypical monogenic disorders or R27 Congenital malformation and dysmorphism syndromes – likely monogenic tests should be used in individuals with congenital malformations, dysmorphism or other complex or syndromic presentations not typical of disorders covered by the panel
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