Galactosemia (GALT) 9 Mutations, Fetal

Casandra

Casandra Test Code AR51150Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 0051270CPT Codes 81265, 81401

Galactosemia (GALT) 9 Mutations, Fetal

Also known as: GALTDNA FE

Clinical Use

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Use

Diagnosing classic galactosemia in fetuses, which is a genetic disorder caused by mutations in the GALT gene. Affected infants typically present symptoms shortly after birth, such as poor feeding, vomiting, diarrhea, jaundice, and lethargy. The disorder can lead to serious complications, including liver failure and increased risk of infections if untreated. The test specifically targets seven common pathogenic GALT mutations and two additional variants, helping to establish or rule out the diagnosis in prenatal samples.

Special Instructions

Counseling and informed consent are recommended for this genetic test. Consent forms are linked on the test page and must be submitted with the order, especially for New York clients. The test requires PCR and must be accompanied by the Fetal Molecular Testing Patient History Form.

Limitations

This test only detects mutations in the GALT gene that are among the nine targeted. Mutations outside this set will not be detected. Diagnostic errors can occur due to rare sequence variations. It is also not FDA-cleared or approved but developed as a laboratory-developed test (LDT). The clinical sensitivity is reduced in populations other than Caucasians due to genetic diversity.

Test Details

New York Approved