Order or find a test

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

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

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

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

Rare Disease Order Form Record of Discussion Form

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