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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

Ordering Recommendation

Diagnostic testing for galactosemia.

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation
Collect

Fetal: Cultured Amniocytes, Cultured CVS AND Maternal Whole Blood Specimen: Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B).

Specimen Preparation

Cultured Amniocytes or Cultured CVS: Transfer cultured amniocytes or cultured CVS to two T-25 flasks at 80 percent confluence. (Min: one T-25 flask at 80 percent confluence) Backup cultures must be retained at the client's institution until testing is complete. If ARUP receives a sample below the minimum confluence, Cytogenetics Grow and Send (ARUP test code 0040182) will be added on by ARUP, and additional charges will apply. If clients are unable to culture specimens, Cytogenetics Grow and Send should be added to the initial order.

Maternal Whole Blood Specimen: 2 mL whole blood (Min: 1 mL).

Storage/Transport Temperature

Cultured Amniocytes or Cultured CVS: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of collection due to viability of cells.
Maternal Whole Blood Specimen: Room temperature

Unacceptable Conditions
Remarks
Stability

Cultured Amniocytes or Cultured CVS: Room temperature: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal Whole Blood Specimen: Room temperature: 7 days; Refrigerated: 1 month; 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

By 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

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