Clinical Indication ID & Name
Parental sequencing for lethal autosomal recessive disorders
Test Group
Specialised
Specialties
Test code
R312.1
Test name
N/A
Target genes
Relevant panel(s) in PanelApp
Test scope
n/a
Test method/ technology
WES or Large penel
Optimal Family Structure
n/a
Eligibility Criteria
1. Lethal disorder with likely autosomal recessive inheritance in which there is limited or no DNA from the deceased individual, AND
2. Both parents are available for testing
Test code
R312.2
Test name
N/A
Target genes
Relevant panel(s) in PanelApp
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
1. Lethal disorder with likely autosomal recessive inheritance in which there is limited or no DNA from the deceased individual, AND
2. Both parents are available for testing
Commissioning group
Other
Overlapping idications
n/a
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
Form not available, please contact us to enquire.
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.