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Test Name:
Galactosemia, (GALT) 9 Mutations
- SBMF No:
44922 - Performance Lab Name:
ARUP Laboratories - Test Mnemonic:
GALTDNA - ABN:
Required – Not FDA-Approved - CPT Code:
83891; 83898; 83909; 83912; 83914x9 - Ref Lab Test No:
0051176 - Also See:
44738 Galactose-1-Phosphate in Red Blood Cells
45529 Galactose-1-Phosphate Uridyltransferase
44923 Galactosemia, (GALT) Enzyme Activity and 9 Mutations - Spec Type:
Whole blood - Spec Container:
Lavender top (EDTA) or pale yellow top (ACD-A or B) tube - Pref Vol:
3.0 mL - Min Vol:
1.0 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
Forward entire tube of unprocessed whole blood to the laboratory - Spec Store Transport:
Refrigerated - Spec Stability:
3 days room temperature (20-30°C)
1 week refrigerated (2-8°C)
Frozen (-20°C): Unacceptable - Methodology:
Polymerase Chain Reaction (PCR)
Single Nucleotide Extension (SNE) - Use:
Evaluates 9 common GALT gene mutations (Q188R, S135L, K285N, T138M, L195P, Y209C, IVS2-2 A>G, N314D and L218L)
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) 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: Approaches 80% in Caucasians but reduced in other ethnic groups.
Methodology: Polymerase chain reaction followed by single nucleotide extension (SNE) and capillary electrophoresis.
Analytical Sensitivity: 99% for mutations listed.
Limitations: Other mutations will not be detected.Note:
This test is offered to individuals with known familial mutation(s) - 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:
11-15 days - Test Type:
GENETIC
