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
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old