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  • Galactose-1-phosphate Uridyl Transferase (Gal-1-PUT) (Also called 'Galactosaemia Screen)

Preferred Sample Type

Galactose-1-phosphate Uridyl Transferase (Gal-1-PUT) (Also called 'Galactosaemia Screen)

Suitable Specimen Types

  • Li Hep
0.5 mL blood

Specimen Transport

Please send to Ref Lab same day via round robin, courier or taxi. Do notsend by first or second-class post. Need to make arrangements with BCH and duty biochemist prior to dispatch. If not able to send same day store packed cells at 4 oC overnight.

Sample Processing in Laboratory

Usual.

Sample Preparation

Send whole blood/packed cells to Ref Lab .

If sample cannot be sent same day store packed cells at 4 degrees, stable for several days.

Turnaround Time

1 week

Sample Stability

4 ºC

Galactose-1-phosphate Uridyl Transferase (Gal-1-PUT) (Also called 'Galactosaemia Screen)

General Information

Galactosaemia is a disorder of galactose metabolism which, if untreated, results in cirrhosis of the liver, blindness and mental retardation. Children with galactosaemia usually develop symptoms within a few days of starting lactose-containing milk. If detected early, the introduction of a galactose-free diet prevents the abnormalities from developing. Galactosaemia type 1 is due to a hereditary absence of the enzyme galactose-1-phosphate uridyl transferase (Gal-1-PUT).

False positives:

  • Very old specimen/transport deterioration
  • G6PD deficient patient
  • High red cell concentration
  • Incorrect anticoagulant eg. EDTA
  • Severe anaemia.

 

False negatives:

  • Blood transfusion

This test is for measurement of Galactose-1-phosphate Uridyl Transferase activity and is not for DNA analysis.

 

Indications for galactosaemia screen:

  • prolonged jaunice with no liver dysfunction
  • cataracts
  • acute liver failure
  • chronic liver disease
  • hypoglycaemia
  • rickets, tubulopathy

 

Patient Preparation

A blood transfusion within 6 weeks of sampling may invalidate results.

Notes

NB. Please contact duty biochemist (bleep 2506) before requesting this test.

EDTA samples are not suitable.

A blood transfusion within 6 weeks of sampling may invalidate results.

If above screening test is positive, send 2 mL of heparinised blood together with that of parents if possible.

 

PLEASE NOTE from 1st January 2018 the referral laboratory will no longer be carrying out a galactosaemia screen and a tyrosinaemia screen on all requests for either test.  The tyrosinaemia screen has changed from a qualitative PBG synthase inhibition test to a quantitative succinly acetone which is more specific for tyrosinaemia type 1 (sample type is either dried blood sopts or plasma).  Clinical indications for tyrosinaemia screen are acute liver failure, chronic liver disease, hypoglycaemia and rickets.  It is not indicated in prolonged jaundice with no liver dysfunction or cataracts.  As with the galactosaemia screen if clinical details are available appropriate testing will be performed by the referral laboratory.

Reference Range

Provided by reference laboratory

Specifications

  • EQA Scheme?: Yes

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