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Test ID GALP Galactose, Quantitative, Plasma

Useful For

Screening for galactosemia

Genetics Test Information

Galactose-1-phosphate uridyltransferase (GALT) deficiency is the most common cause of galactosemia and requires lifelong restriction of dietary galactose.

 

Plasma galactose can be elevated in patients with galactosemia caused by galactose-1-phosphate uridyltransferase (GALT) deficiency, galactokinase (GALK) deficiency, or galactose mutarotase (GALM) deficiency.

 

Classic galactosemia can be diagnosed by analysis of GALT enzyme.

Method Name

Spectrophotometric/Kinetic

Reporting Name

Galactose, QN, P

Specimen Type

Plasma Na Heparin


Ordering Guidance


This test is not recommended for follow-up of positive newborn screening results or for diagnosis of galactosemia. The preferred test to evaluate for possible diagnosis of galactosemia, routine carrier screening, and follow-up of abnormal newborn screening results is GCT / Galactosemia Reflex, Blood along with GAL1P / Galactose-1-Phosphate, Erythrocytes.

 

The preferred test for monitoring dietary therapy is GAL1P / Galactose-1-Phosphate, Erythrocytes for both GALT and GALE deficiencies

 

This test may be useful for monitoring in patients with GALM deficiency.



Necessary Information


Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.



Specimen Required


Collection Container/Tube: Green top (sodium heparin)

Submission Container/Tube: Plastic vial

Specimen Volume: 0.5 mL


Specimen Minimum Volume

0.2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Plasma Na Heparin Frozen (preferred) 365 days
  Ambient  20 days
  Refrigerated  20 days

Reference Values

≤7 days: <5.4 mg/dL

8-14 days: <3.6 mg/dL

≥15 days: <2.0 mg/dL

Day(s) Performed

Tuesday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82760

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GALP Galactose, QN, P 2308-5

 

Result ID Test Result Name Result LOINC Value
83638 Galactose, QN, P 2308-5

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

Testing Algorithm

See Galactosemia Testing Algorithm in Special Instructions for additional information.

Disease States

  • Galactosemia

Report Available

8 to 15 days

NY State Approved

Yes

Forms

1. Biochemical Genetics Patient Information (T602) is recommended, see Special Instructions.

2. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.