PLSD - Specimen: Lysosomal and Peroxisomal Storage Disorders Screen, Blood Spot

Test Catalog

Test Name

Test ID: PLSD    
Lysosomal and Peroxisomal Storage Disorders Screen, Blood Spot

Testing Algorithm Delineates situations 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.

 

See Newborn Screen Follow-up for Niemann Pick Type A and B in Special Instructions.

Specimen Type Describes the specimen type validated for testing

Whole blood

Advisory Information

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)

Container/Tube:

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 acceptable filter paper

Specimen Volume: 2 blood spots

Collection Instructions:

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.

Forms

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 (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 The amount of sample necessary to provide a clinically relevant result as determined by the Laboratory.

1 blood spot

Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected

Hemolysis

NA

Lipemia

NA

Icterus

NA

Other

Blood spot specimen that shows serum rings, insufficient specimen; non-approved filter papers

Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperatures are also included.

Specimen TypeTemperatureTime
Whole bloodRefrigerated (preferred)56 days
 Frozen 56 days
 Ambient 7 days