Emory Genetics, Galactosemia Carrier Screening

Message

Collect at NMCP only Mon-Thursday by 1200

Test Code

NMCP034

Alias/See Also

Galactosemia, Classic: Carrier Testing (GALT Enzyme Activity), Red Blood Cells. Galactosemia Carrier Screening, GALT Deficiency Carrier Screening, Galactose-1-Phosphate Uridyltransferase Deficiency Carrier Screening

CPT Codes
82775 (x1)

Preferred Specimen

Whole Blood In sodium heparin (green top) tube: 7 - 10 ml

Instructions

Refrigerate until time of shipment. Ship sample overnight at room temperature for receipt at EGL within 24 hours of collection.

Transport Temperature

Refrigerate until time of shipment. Ship sample overnight at room temperature for receipt at EGL within 24 hours of collection.

Methodology
GALT enzyme activity is performed using quantitative radioenzymatic analysis.

Report Available

7 days - 14 days

Reference Range

Carriers of galactosemia typically have 50% GALT activity.

Clinical Significance

Galactosemia is an autosomal recessive disorder of galactose metabolism that often presents in the newborn period with poor suck, vomiting, diarrhea, bleeding diathesis, lethargy, jaundice, and sepsis. If left untreated, an individual may progress to irreversible liver disease and mental retardation. The prevalence of galactosemia is approximately 1 in 30,000 newborns. Most often galactosemia is caused by a deficiency of the galactose-1-phosphate uridyltransferase (GALT) enzyme, due to mutations in the GALT gene located on chromosome 9p13.Family members of individuals with galactosemia are at risk to be carriers of the disorder. Carrier testing for galactosemia is accomplished by measurement of GALT enzymatic activity. In addition, gene sequencing and analysis for a common 5.0 kb deletion is available to identify the mutation and confirm enzymatic assay results. • Please note that if GALT gene sequencing (test code SG) is needed due to results from this test, DNA can be obtained from the sodium heparin (green top) tube submitted for this test. This test is indicated in the case of: • Parents of an affected child • Unaffected adult siblings of an affected individual • Parents or siblings of an individual with Duarte galactosemia. This test is NOT appropriate for the diagnosis of children at risk to have galactosemia. Please refer to Galactosemia: Classic Panel (GS).

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.