Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R69

Hypotonic infant

Test Group

Core

Specialties

Clinical Genetics Neonatology Neurology Paediatrics

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

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

Test code

R69.3

Test name

N/A

Target genes

Genomewide

Test scope

n/a

Test method/ technology

Microarray

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

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

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

Commissioning group

Core

Overlapping idications

• R70 Spinal muscular atrophy type 1 diagnostic test and other tests for peripheral or neuromuscular causes should be used where clinical features point to a peripheral cause, i.e. particularly 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

Address for samples/request forms

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

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

Rare Disease Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

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