Galactosemia, GALT Gene, Full Gene Analysis
Use
This test utilizes next‑generation sequencing to detect single nucleotide and copy number variants in one gene associated with galactosemia: GALT. Identification of a disease‑causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for galactosemia.
Special Instructions
Additional first tier testing may be considered/recommended. For prenatal specimens, consult the laboratory; prenatal specimens (amniotic fluid, chorionic villi, cultured fibroblasts) require culture prior to analysis and incur additional charges; maternal cell contamination testing is required for cord or prenatal specimens. Reflex testing using STR analysis or fibroblast culture is available as indicated for certain specimen types.
Limitations
There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis due to technical limitations such as regions of homology, high GC content, and repetitive sequences. Extraction may fail due to DNA quality or specimen age; repeat will be attempted but may result in failure. Post‑transplant specimens (hematopoietic stem cell transplant) may interfere with testing.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 76037-1
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 48018-6
- 18771-6
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD); acceptable: green top (Sodium heparin)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |