Clinical Indication ID & Name
Hypotonic infant
Test Group
Core
Specialties
Test code
R69.1
Test name
N/A
Target genes
SNRPN DMR
Test scope
n/a
Test method/ technology
Methylation testing
Optimal Family Structure
n/a
Eligibility Criteria
This test is no longer commissioned by NHS England. This means it is not available to order.
Test code
R69.3
Test name
N/A
Target genes
Genomewide
Test scope
n/a
Test method/ technology
N/A
Optimal Family Structure
n/a
Eligibility Criteria
This test is no longer commissioned by NHS England. This means it is not available to order.
Test code
R69.4
Test name
N/A
Target genes
DMPK STR
Test scope
n/a
Test method/ technology
STR testing
Optimal Family Structure
n/a
Eligibility Criteria
Neonates or infants with unexplained hypotonia where the clinical picture is suggestive of a central cause, i.e. particularly where the baby is not alert, but lethargic or sleepy.
It is not a requirement to perform microarray testing in addition to WGS but microarray testing can be performed where appropriate
Test code
R69.5
Test name
N/A
Target genes
Hypotonic infant (490)
Test scope
n/a
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
Neonates or infants with unexplained hypotonia where the clinical picture is suggestive of a central cause, i.e. particularly where the baby is not alert, but lethargic or sleepy.
It is not a requirement to perform microarray testing in addition to WGS but microarray testing can be performed where appropriate
Commissioning group
Core
Overlapping idications
• R70 Spinal muscular atrophy type 1 diagnostic test and/or R48 Prader Willi syndrome and/or R72 Myotonic dystrophy and/or other tests for neuromuscular causes should be used where the baby is alert and responsive and the floppiness appears static over a period of days • R14 Acutely unwell children with a likely monogenic disorder, should be used for acutely unwell neonates with hypotonia. Please note that myotonic dystrophy, SMA and Prader Willi syndrome are not tested for within R14 and need to be requested separately
Address for samples/request forms
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
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
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