Clinical Indication ID & Name
Intellectual disability – microarray only
Test Group
Core
Specialties
Test code
R377.1
Test name
N/A
Target genes
Genomewide
Test scope
n/a
Test method/ technology
Microarray
Optimal Family Structure
n/a
Eligibility Criteria
Unexplained moderate/severe/profound global developmental delay or unexplained
moderate/severe/profound intellectual disability.
R377 microarray testing is not a requirement prior to R29 or R27 being initiated in patients with
moderate/severe/profound intellectual disability in whom a monogenic cause of their clinical presentation is suspected.
Commissioning group
Core
Overlapping idications
R27 Paediatric disorders should be used in individuals with congenital malformations, dysmorphism or other complex or syndromic presentations Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a genetic or genomic diagnosis will guide management for the proband or family.
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.