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Test Name:
Galactosemia, (GALT) Enzyme Activity and 9 Mutations
- SBMF No:
44923 - Performance Lab Name:
ARUP Laboratories - Test Mnemonic:
GALTPAN - ABN:
Required – Not FDA-Approved - CPT Code:
82775; 83891; 83898; 83909; 83912; 83914x9 - LOINC Code:
19146-0; 19146-0; 19146-0; 19146-0; 19146-0; 42940-7; 42941-5; 19146-0; 10970-2 - Ref Lab Test No:
0051175 - Test Includes:
Galactose-1-Phosphate Uridyltransferase
Galactosemia, (GALT) 9 Mutations - Also Known As:
Galactosemia (GALT) Panel - Also See:
44738 Galactose-1-Phosphate in Red Blood Cells
45529 Galactose-1-Phosphate Uridyltransferase
44922 Galactosemia, (GALT) 9 Mutations - Spec Type:
Whole blood - Spec Container:
Two (2) Lavender top (EDTA) or green top (sodium heparin) tubes - Pref Vol:
10.0 mL - Min Vol:
3.0 mL - Fasting:
No - Patient Prep:
Form required: "Patient History for Galactosemia"
Counseling and informed consent are recommended for genetic testing
Consent and patient history forms are available online - Spec Collect:
Routine venipuncture - Spec Process:
Gently invert tube to mix blood with the anticoagulant
Do not centrifuge
Do not remove plasma from cells
Refrigerate and transport refrigerated - Spec Store Transport:
Refrigerated - Spec Stability:
Room temperature (20-30°C): Unacceptable
5 days refrigerated (2-8°C)
Frozen (-20°C): Unacceptable - Spec Reject:
Room temperature or frozen sample - Spec Remarks:
Do not freeze - Methodology:
Enzymatic
Polymerase Chain Reaction (PCR)
Single Nucleotide Extension (SNE) - Use:
Clarify an abnormal newborn screen for galactosemia; test symptomatic neonates; carrier testing for parents of offspring deemed affected or a carrier of galactosemia
Evaluates 9 common GALT gene mutations (Q188R, S135L, K285N, T138M, L195P, Y209C, IVS2-2 A>G, N314D and L218L) and measures GALT enzyme activity in red blood cells
Clinical sensitivity approaches 80% in Caucasians; lower in other ethnic groups - Clinical Significance:
Refer to:
- Reference Range:
By Report
Interpretive Data:
Background Information for Galactosemia, (GALT) Enzyme Activity & 9 Mutations:
Characteristics: Affected infants present at 3-14 days old with poor feeding, vomiting, diarrhea, jaundice, lethargy progressing to coma, and abdominal distension with hepatomegaly usually followed by progressive liver failure. Patients with galactosemia are also at increased risk for E. coli or other Gramnegative neonatal sepsis. Diagnosis is made by measuring GALT enzyme activity in red blood cells.
Incidence: Approximately 1 in 30,000 to 60,000 of classic galactosemia in Caucasian, varies in other populations.
Inheritance: Autosomal recessive
Penetrance: 100% for severe GALT mutations
Cause: Mutations in the GALT gene.
Mutations Detected: Seven GALT gene mutations (Q188R, S135L, K285N, T138M, L195P, Y209C, and IVS2-2 A>G) and two variants (N314D and L218L).
Clinical Sensitivity DNA: Approaches 80% in Caucasians but reduced in other ethnic groups.
Methodology DNA: Polymerase chain reaction followed by single nucleotide extension (SNE) and capillary electrophoresis.
Analytical Sensitivity DNA: 99% for mutations listed.
Limitations DNA: Other mutations will not be detected.
Methodology Enzymatic: Spectrophotometric quantitation of enzyme activity in red blood cells. - Additional Test Info:
This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.
Genetic Compliance Statement
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. - Day Run:
Tue, Thu - Time Reported:
8-11 days - Test Type:
GENETIC
