Galt Gene Analysis Common Variants
| Label Mnemonic: | GALGENE |
| Epic code: | LAB3195 |
| Downtime form: | A-1a Doctor/Provider Orders - Pathology Core and Specialty Care Nursery |
Commercial Mailout Laboratory
6240-8 RCP
356-8593
6240-8 RCP
356-8593
Specimen(s):
Whole Blood or Blood Spot
Collection Medium:
 |
| Lavender top tube 3 mL (EDTA) |
Alternate
Collection Media:
Pink top tube 6 mL (K2-EDTA)
Minimum:
Specimen must arrive reference laboratory within 96 hours of
collection.
Submit only 1 of the following specimens.
Preferred: Collect blood in a lavender top (EDTA) tube and send 3.0 mL of EDTA whole blood in original Vacutainer®(S). Invert several times to mix blood. Forward unprocessed whole blood promptly at ambient temperature.
Acceptable: 5 blood spots collected on Whatman Protein Saver 903 Paper. Let blood dry on the filter paper at ambient temperature in a horizontal position for 3 hours. Do not expose specimen to heat or direct sunlight. Do not stack wet specimens. Keep specimen dry.
Submit only 1 of the following specimens.
Preferred: Collect blood in a lavender top (EDTA) tube and send 3.0 mL of EDTA whole blood in original Vacutainer®(S). Invert several times to mix blood. Forward unprocessed whole blood promptly at ambient temperature.
Acceptable: 5 blood spots collected on Whatman Protein Saver 903 Paper. Let blood dry on the filter paper at ambient temperature in a horizontal position for 3 hours. Do not expose specimen to heat or direct sunlight. Do not stack wet specimens. Keep specimen dry.
Turn Around
Time:
6 days upon receipt at reference laboratory
Reference Range:
An interpretive report will be provided.
Interpretive Data:
An interpretative report will be provided.
Results should be interpreted in the context of biochemical results.
Results should be interpreted in the context of biochemical results.
Comments:
This mailout test requires pathologist approval for orders during
inpatient encounters. Mailouts staff will not process order without
approval. The pathologist covering mailouts approval can be reached at
pager #3724. If approval is given, the name of the pathologist can be
selected in the drop-down menu to the right of the approval warning in
Epic when ordering the test.
Useful for:
Second-tier test for confirming a diagnosis of galactosemia (indicated by enzymatic testing or newborn screening).
Carrier testing family members of an affected individual of known genotype (has mutations included in the panel).
Resolution of Duarte variant and Los Angeles (LA) variant genotypes.
Cautions:
This assay will not detect all of the mutations that cause galactosemia. Therefore, the absence of a detectable mutation does not rule out the possibility that an individual is a carrier of or affected with this disease.
Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.
Rare polymorphisms exist that could lead to false-negative or false- positive results. If results obtained do not match the clinical findings, additional testing should be considered.
In rare cases, DNA alterations of undetermined significance may be identified.
Many disorders may present with symptoms similar to those associated with galactosemia. Therefore, biochemical testing is recommended to establish the diagnosis of galactosemia prior to DNA analysis.
Please print, complete, and submit the following with the appropriate signatures and the correct sample type:
Molecular Genetics: Congenital Biochemical Disorders Patient Information Sheet and the Informed Consent for Genetic Testing from Mayo Medical Laboratories with the A-1a Miscellaneous Request.
Useful for:
Second-tier test for confirming a diagnosis of galactosemia (indicated by enzymatic testing or newborn screening).
Carrier testing family members of an affected individual of known genotype (has mutations included in the panel).
Resolution of Duarte variant and Los Angeles (LA) variant genotypes.
Cautions:
This assay will not detect all of the mutations that cause galactosemia. Therefore, the absence of a detectable mutation does not rule out the possibility that an individual is a carrier of or affected with this disease.
Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.
Rare polymorphisms exist that could lead to false-negative or false- positive results. If results obtained do not match the clinical findings, additional testing should be considered.
In rare cases, DNA alterations of undetermined significance may be identified.
Many disorders may present with symptoms similar to those associated with galactosemia. Therefore, biochemical testing is recommended to establish the diagnosis of galactosemia prior to DNA analysis.
Please print, complete, and submit the following with the appropriate signatures and the correct sample type:
Molecular Genetics: Congenital Biochemical Disorders Patient Information Sheet and the Informed Consent for Genetic Testing from Mayo Medical Laboratories with the A-1a Miscellaneous Request.
Methodology:
Multiplex polymerase chain reaction (PCR)-Based Assay Utilizing the
Agena Mass ARRAY Platform
CPT Code:
81401