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Galactosemia (GALT) 9 Mutations, Fetal

GALTDNA FE
Example Reports
Negative
Positive

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Fetal Molecular Testing Patient History Form

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Informed Consent for Genetic Testing (Required for NY Patients)

Ordering Recommendation

Diagnostic testing for galactosemia.

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation
Collect

Fetal Specimen: Cultured amniocytes OR cultured chorionic villus sampling (CVS).
Maternal Specimen: Refer to Maternal Cell Contamination, Maternal Specimen (0050608) for maternal specimen requirements.

Specimen Preparation

Transport: Two T-25 flasks of 80% confluent cultured amniocytes OR
Two T-25 flasks of 80% confluent cultured chorionic villus sampling (CVS).
Cultured amniocytes or cultured CVS is required for testing. If submitting uncultured (direct) amniotic fluid or (direct) CVS and testing is desired on a cultured specimen, add Cell Culture for Genetic Testing (3020627). If transporting flasks, the client is responsible for maintaining backup cultures at the client institution. If ARUP receives cultured fetal cells below minimum confluence, Cell Culture for Genetic Testing (3020627) will be added by ARUP.

Storage/Transport Temperature

Preferred transport: Room temperature.
Preferred shipment: Within two days of collection or confluence.

Unacceptable Conditions

Frozen specimens.

Remarks

Counseling and informed consent are recommended for genetic testing. Consent forms are linked above.
New York Clients: Informed consent is required with submission.

Stability

Room temperature: 2 days; Refrigerated: Unacceptable; Frozen: Unacceptable

Methodology

Polymerase Chain Reaction (PCR) / Single Nucleotide Extensions

Performed

Sun-Sat

Reported

5-7 days
If culture is required, an additional 1 to 2 weeks is required for processing time.

Reference Interval

Refer to report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

This test is offered to individuals with a known familial mutation(s).

Hotline History

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
01/20/2026
X
07/21/2025
X
X
N/A

CPT Codes

81401; 81265 Fetal Cell Contamination (FCC)

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Components

Component Test Code* Component Chart Name LOINC
0050548 Maternal Contamination Study Fetal Spec 59266-7
0050612 Maternal Contam Study, Maternal Spec 66746-9
0051177 Galactosemia - Ethnicity 42784-9
0051178 Galactosemia - Symptoms
0051180 Galactosemia - Family History 8670-2
0051182 Galactosemia (GALT) Allele 1 42940-7
0051183 Galactosemia (GALT) Allele 2 42941-5
0051184 Galactosemia (GALT) DNA Panel Interp 50398-7
2001352 Galactosemia (GALT) DNA Pan, Fetal Spec 31208-2
* 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

  • Galactosemia Carrier Testing
  • Galactosemia Confirmation Test
  • Galactosemia genotyping
  • GALT DNA
Galactosemia (GALT) 9 Mutations, Fetal