Clinical Indication ID & Name
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Test Group
Neurology
Specialties
Test code
R82.1
Test name
N/A
Target genes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies (185)
Test scope
n/a
Test method/ technology
WES or Medium Panel
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features that indicate a likely limb girdle muscular dystrophy or a genetic condition with overlapping phenotype such as distal myopathy or myofibrillar myopathy.
Test code
R82.2
Test name
N/A
Target genes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies (185)
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 limb girdle muscular dystrophy or a genetic condition with overlapping phenotype such as distal myopathy or myofibrillar myopathy.
Commissioning group
Highly Specialised
Overlapping idications
• R79 Congenital muscular dystrophy or R89 Ultra-rare and atypical monogenic disorders tests should be used where features are atypical
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