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.

Ehlers Danlos syndrome with a likely monogenic cause

Clinical Indication ID & Name

R101

Ehlers Danlos syndrome with a likely monogenic cause

Test Group

Musculoskeletal

Specialties

Clinical Genetics Rheumatology

Test code

R101.1

Test name

N/A

Target genes

Ehlers Danlos syndromes (53)

Test scope

n/a

Test method/ technology

WES or Medium Panel

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features indicative of a likely monogenic Ehlers Danlos syndrome:
• Classical EDS (cEDS)
• Classical-like EDS (clEDS)
• Cardiac-valvular EDS (cvEDS)
• Vascular EDS (vEDS)
• Arthrochalasia EDS (aEDS)
• Dermatosparaxis EDS (dEDS)
• Kyphoscoliotic EDS (kEDS)
• Brittle Cornea Syndrome (BCS)
• Spondylodysplastic EDS (spEDS)
• Musculocontractural EDS (mcEDS)
• Myopathic EDS (mEDS)
• Periodontal EDS (pEDS)
Testing should only be used where it will impact on clinical management

Test code

R101.2

Test name

N/A

Target genes

Ehlers Danlos syndromes (53)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features indicative of a likely monogenic Ehlers Danlos syndrome:
• Classical EDS (cEDS)
• Classical-like EDS (clEDS)
• Cardiac-valvular EDS (cvEDS)
• Vascular EDS (vEDS)
• Arthrochalasia EDS (aEDS)
• Dermatosparaxis EDS (dEDS)
• Kyphoscoliotic EDS (kEDS)
• Brittle Cornea Syndrome (BCS)
• Spondylodysplastic EDS (spEDS)
• Musculocontractural EDS (mcEDS)
• Myopathic EDS (mEDS)
• Periodontal EDS (pEDS)
Testing should only be used where it will impact on clinical management

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

Rare Disese WGS Clinician pack

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