Request / Find a Test Tool

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

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Hypotonic infant

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

North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH

Contact with queries

gos-tr.norththamesgenomics@nhs.net

Supporting documents

Rare Disese WGS Clinician pack

Education resources

n/a

Service updates

n/a

Request form download

RD WGS - Request Form RD WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form