Request / Find a Test Tool

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Congenital muscular dystrophy

Clinical Indication ID & Name

R79

Congenital muscular dystrophy

Test Group

Neurology

Specialties

Clinical Genetics Neurology

Test code

R79.1

Test name

N/A

Target genes

Congenital muscular dystrophy (207)

Test scope

n/a

Test method/ technology

WES or Medium Panel

Optimal Family Structure

n/a

Eligibility Criteria

Individuals with clinical features that indicate a likely congenital muscular dystrophy:
1. Muscle biopsy results indicative of congenital muscular dystrophy, OR
2. Muscle and/or brain MRI findings indicative of congenital muscular dystrophy

Test code

R79.2

Test name

N/A

Target genes

Congenital muscular dystrophy (207)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Individuals with clinical features that indicate a likely congenital muscular dystrophy:
1. Muscle biopsy results indicative of congenital muscular dystrophy, OR
2. Muscle and/or brain MRI findings indicative of congenital muscular dystrophy

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

gos-tr.norththamesgenomics@nhs.net

Supporting documents

n/a

Education resources

n/a

Service updates

n/a

Request form download

RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form