Clinical Indication ID & Name
Hereditary haemorrhagic telangiectasia
Test Group
Respiratory
Test code
R186.1
Test name
N/A
Target genes
Hereditary haemorrhagic telangiectasia (123)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Test where any THREE of the following criteria are met:
1. Epistaxis: spontaneous, recurrent nose bleeds
2. Telangiectases: multiple, at characteristic sites (lips, oral cavity, fingers, nose)
3. Visceral lesions such as gastrointestinal telangiectasia (with or without bleeding), pulmonary
arteriovenous malformation (AVM), hepatic AVM, cerebral AVMs, spinal AVM
4. Family history: a first degree relative with HHT according to these criteria (as above) or an autosomal dominant family history of nosebleeds or first degree relative with cerebral AVM / cerebral haemorrhage / pulmonary or hepatic AVM.
Alternatively, test where any ONE of the following criteria are met:
A) Personal history of at least one pulmonary AVM*
B) Personal history of two or more AVMs at one or more characteristic sites (pulmonary*, cerebral, hepatic or spinal)
C) Personal history of at least one AVM and severe epistaxis or characteristic telangiectasia or family history
D) Personal history of telangiectasia, and refractory or severe epistaxis (e.g. requiring recurrent
transfusions) *
*Pulmonary AVM only if confirmed by cross sectional imaging (usually thoracic CT scan), and/or later therapeutic angiography/surgery. Do not diagnose if only supported by a positive right-to-left shunt study (“bubble echo”) or chest x-ray.
To Note: if there is no antecedent family history implying a “first in family” case more likely to be
mosaic.
Test code
R186.2
Test name
N/A
Target genes
Hereditary haemorrhagic telangiectasia (123)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Test where any THREE of the following criteria are met:
1. Epistaxis: spontaneous, recurrent nose bleeds
2. Telangiectases: multiple, at characteristic sites (lips, oral cavity, fingers, nose)
3. Visceral lesions such as gastrointestinal telangiectasia (with or without bleeding), pulmonary
arteriovenous malformation (AVM), hepatic AVM, cerebral AVMs, spinal AVM
4. Family history: a first degree relative with HHT according to these criteria (as above) or an autosomal dominant family history of nosebleeds or first degree relative with cerebral AVM / cerebral haemorrhage / pulmonary or hepatic AVM.
Alternatively, test where any ONE of the following criteria are met:
A) Personal history of at least one pulmonary AVM*
B) Personal history of two or more AVMs at one or more characteristic sites (pulmonary*, cerebral, hepatic or spinal)
C) Personal history of at least one AVM and severe epistaxis or characteristic telangiectasia or family history
D) Personal history of telangiectasia, and refractory or severe epistaxis (e.g. requiring recurrent
transfusions) *
*Pulmonary AVM only if confirmed by cross sectional imaging (usually thoracic CT scan), and/or later therapeutic angiography/surgery. Do not diagnose if only supported by a positive right-to-left shunt study (“bubble echo”) or chest x-ray.
To Note: if there is no antecedent family history implying a “first in family” case more likely to be
mosaic.
Commissioning group
Specialised
Overlapping idications
n/a
Address for samples/request forms
Clinical Genetics & Genomics Laboratory
Royal Brompton Hospital
2nd (Ground) Floor, Sydney Wing
Sydney Street
London SW3 6NP
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