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Galactosemia (GALT) Sequencing ( Inactivated 8/20/2012. Refer to GALT (Galactosemia) Sequencing 2006697)
0051346
Ordering Recommendation
Mnemonic
GALT FGA
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Sun-Sat
Reported
Within 21 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Contact ARUP's genetic counselor at (800) 242-2787, extension 2141, prior to test submission. 
Specimen Preparation
 
Storage/Transport Temperature
 
Unacceptable Conditions
 
Remarks
A Galactosemia-specific patient history form must be submitted with specimen; available at <http://aruplab.com/genetics/forms.php> 
Stability
 
Reference Interval
By report
Interpretive Data
Background Information for Galactosemia (GALT) Sequencing:
Characteristics:
Vomiting, diarrhea, feeding problems, failure to thrive, hepatocellular damage, bleeding, sepsis, mental retardation, and neonatal death. If treated early, most symptoms resolve, although speech, motor problems, developmental delay andpremature ovarian failure may persist.
Incidence:
Approximately 1 in 30,000.
Inheritance:
Autosomal recessive
Penetrance:
100% for severe mutations.
Cause:
Deleterious galactose-1-phosphate uridyl transferase (GALT) gene mutations.
Clinical sensitivity:
98 percent.
Methodology:
Bidirectional sequencingof the entire GALT coding region intron/exon boundaries and partial 5'UTR.
Analytic Sensitivity & Specificity:
99 percent.
Limitations:
Deep intronic mutations andlarge deletions/duplications will not be identified; analytical sensitivity may be compromised by rare primer site mutations; galactosemia caused by mutations in other genes will not be detected.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
For more information refer to GALT mutation database at http://arup.utah.edu/database/galactosemia/GALT_welcome.php
CPT Code(s)
83891 Isolation; 83898 x7 Amplification; 83904 x7 Sequencing; 83909 Capillary electrophoresis; 83912 Interpretation and report
Components
Component Test Code*Component Chart NameLOINC
0051177Galactosemia - Ethnicity
0051178Galactosemia - Symptoms
0051179Galactosemia - Abnormal Newborn Screen
0051180Galactosemia - Family History
0051345Galactosemia (GALT) Sequencing
2001350Galactosemia - Specimen
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases