Clinical Indication ID & Name
Isolated hemihypertrophy or macroglossia
Test Group
Endocrinology
Specialties
Test code
R50.1
Test name
N/A
Target genes
11p15 imprinted growth regulatory region
Test scope
n/a
Test method/ technology
Methylation testing
Optimal Family Structure
n/a
Eligibility Criteria
Isolated hemihypertrophy, OR
Isolated macroglossia
Test code
R50.2
Test name
N/A
Target genes
11p15 imprinted growth regulatory region
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Isolated hemihypertrophy, OR
Isolated macroglossia
Commissioning group
Specialised
Overlapping idications
• R49 Beckwith-Wiedemann syndrome test should be used where additional features suggestive of Beckwith-Wiedemann syndrome are present • R147 Growth failure in early childhood test should be used where additional features suggestive of Silver-Russell syndrome are present • R26 Likely common aneuploidy test should be used where macroglossia occurs in the presence of features suggestive of Down syndrome • R27 Congenital malformation and dysmorphism syndromes – likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with complex or syndromic presentations not suggestive of Beckwith-Wiedemann syndrome, Silver-Russell syndrome or Down syndrome. • R263 Confirmation of uniparental disomy test should be used to confirm likely UPD detected on methylation and copy number testing
Address for samples/request forms
Please refer to the test request form.
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection 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 Sample Storage and Volume Required: Perirpheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (3-5µg of purified DNA). Where it is not possible to collect peripheral blood we will accept a saliva sample (please contact the lab for specific details). Storage, sample packing and transportation: Blood should be stored at 4°C where possible. Send at room temperature by first class post or by courier. Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: Clotted samples are unsuitable for DNA analysis. Blood Samples in incorrect anticoagulant tubes may be rejected.