Clinical Indication ID & Name
Congenital malformation and dysmorphism syndromes – microarray only
Test Group
Core
Test code
R28.1
Test name
N/A
Target genes
Genomewide
Test scope
n/a
Test method/ technology
Microarray
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features strongly suggestive of a chromosomal cause, for example individuals with features characteristic of Williams syndrome
Where possible, the chromosomal disorder suspected should be specified on the test request form.
R28 microarray testing is not a requirement prior to R27 being initiated in patients with a possible monogenic cause of a syndromic paediatric disorder in whom there are no recognisable features of a specific chromosome disorder
Commissioning group
Core
Overlapping idications
• R27 Congenital malformation and dysmorphism syndromes – likely monogenic test should be used instead where the likelihood of a chromosomal cause is lower • R26 Likely common aneuploidy test should be used where clinical features are strongly suggestive of trisomy 13, 18 or 21, Turner syndrome or other sex chromosome aneuploidy
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: Peripheral 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: Samples should arrive within 72 hours Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: DNA extracted using Chelex/Instagene methods is not suitable for this test. Sample Storage and Volume Required: Peripheral 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: Samples should arrive within 72 hours Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: DNA extracted using Chelex/Instagene methods is not suitable for this test.