|Downtime form:||A-1a Doctor/Provider Orders - Pathology Core and Specialty Care Nursery|
|Lavender top tube 3 mL (EDTA)|
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.
Results should be interpreted in the context of biochemical results.
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.
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.