Lysosomal and Peroxisomal Storage Disorders Screen, Blood Spot
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
Results will be reviewed and second tier testing (lysophosphatidylcholines, mucopolysaccharidosis, psychosine, glucopsychosine or oxysterols) may be performed at a clinical biochemical geneticist's discretion at an additional charge.
Specimen Type Describes the specimen type needed for testing
To evaluate adult patients with a clinical presentation suggestive of Adrenomyeloneuropathy (AMN), the recommended test is POX / Fatty Acid Profile, Peroxisomal (C22-C26), Serum. Lysophosphatidylcholine (LPC) concentrations may not be consistently elevated in adult blood spots.
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Supplies: Card-Blood Spot Collection (Filter Paper) (T493)
Preferred: Card-Blood Spot Collection (Filter Paper) (T493)
Acceptable: Ahlstrom 226 filter paper, Munktell filter paper, Whatman Protein Saver 903 paper, or blood collected in tubes containing ACD, EDTA, or heparin and dried on filter paper.
Specimen Volume: 2 blood spots
1. Completely fill at least 2 circles on the filter paper card (approximately 100 microliters blood per circle).
2. Let blood dry on the filter paper at ambient temperature in a horizontal position for 3 hours.
3. Do not expose specimen to heat or direct sunlight.
4. Do not stack wet specimens.
5. Keep specimen dry.
1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (Supply T576) is available in Special Instructions.
2. Biochemical Genetics Patient Information (T602) in Special Instructions.
3. If not ordering electronically, complete, print, and send a General Request Form (T239) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/general-request-form.pdf).
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
1 blood spot
Blood spot specimen that shows serum rings, insufficient specimen
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
|Whole blood||Refrigerated (preferred)||56 days|