Clinical Indication ID & Name
Neutropaenia consistent with ELANE mutations
Test Group
Haematology
Specialties
Test code
R313.1
Test name
N/A
Target genes
ELANE
Test scope
n/a
Test method/ technology
Single gene sequencing <10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
1. Isolated neutropaenia where ELANE mutations are plausible and have not been excluded, AND
2. Family history should NOT indicate autosomal recessive disease, AND
3. Clinical presentation is non-syndromic
Commissioning group
Specialised
Overlapping idications
• R91 Cytopenia – NOT Fanconi anaemia or R258 Cytopenia – Fanconi breakage testing indicated tests should be used where features are atypical of ELANE mutations • R27 Congenital malformation and dysmorphism syndromes – likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with congenital malformations, dysmorphism or other complex or syndromic presentations
Address for samples/request forms
SYNNOVIS ANALYTICS MOLECULAR PATHOLOGY LABORATORY
Molecular Pathology c/o Central Specimen Reception,
Blood Sciences Laboratory,
Ground Floor Bessemer Wing,
King’s College Hospital,
Denmark Hill,
London,
SE5 9RS
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