LABORATORY TEST DIRECTORY

Testing

ARUP's Laboratory Test Directory

0051346: Galactosemia (GALT) Sequencing

Test Mnemonic: GALT FGA
Methodology: Polymerase Chain Reaction/Sequencing Performed: Sun-Sat Reported: Within 21 days

Specimen Required:
Collect: Please contact ARUP's genetic counselor at (800) 242-2787 extension 2946 prior to test submission. A Galactosemia specific patient history form, available online at www.aruplab.com, must be submitted with specimen. 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 and premature 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 sequencing of the entire GALT coding region intron/exon boundaries and partial 5'UTR.
Analytic Sensitivity & Specificity: 99 percent.
Limitations: Deep intronic mutations and large 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.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory.

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