Referred Tests
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing. | |
Test ID: LDALD
Lysosomal and Peroxisomal Disorders Newborn Screen, Blood Spot
Testing Algorithm 
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
First-tier results will be reviewed and second-tier screening performed at a clinical biochemical geneticist's discretion at no additional charge. This minimizes the false-positive rate and maximizes the positive predictive value of screening for these lysosomal storage disorders.
The following algorithms are available in Special Instructions:
-Newborn Screen Follow-up for Gaucher Disease
-Newborn Screen Follow-up for Mucopolysaccharidosis Type I
-Newborn Screen Follow-up for Niemann Pick Type A and B
-Newborn Screen Follow-up for Pompe Disease
-Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy
For more information, see the following Newborn Screening ACT Sheets:
-Newborn Screening Act Sheet Fabry Disease: Decreased Alpha-Galactosidase A
-Newborn Screening Act Sheet Gaucher Disease: Decreased Acid Beta-Glucosidase
-Newborn Screening Act Sheet Krabbe Disease: Decreased Galactocerebrosidase
-Newborn Screening Act Sheet Mucopolysaccharidosis Type I: Decreased Alpha-L-Iduronidase
-Newborn Screening Act Sheet Niemann-Pick A/B Disease: Decreased Acid Sphingomyelinase
-Newborn Screening Act Sheet Pompe Disease: Decreased Acid Alpha-Glucosidase
-Newborn Screening Act Sheet X-Linked Adrenoleukodystrophy: Increased Very Long Chain Fatty Acids
Specimen Type Describes the specimen type validated for testing
Advisory Information
Testing performed in the context of newborn screening only. For diagnostic testing, or at a clinical biochemical geneticist's discretion, testing may be changed to PLSD / Lysosomal and Peroxisomal Storage Disorders Screen, Blood Spot.
Necessary Information
Birth weight, time of birth, and gestational age are required.
Specimen Required Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Patient must be older than 24 hours and less than 1 week of age.
Supplies: Card-Blood Spot Collection (Filter Paper) (T493)
Container/Tube:
Preferred: Card-Blood Spot Collection (Filter Paper)
Acceptable: Ahlstrom 226 filter paper, Munktell filter paper, Whatman Protein Saver 903 Paper, or blood collected in tubes containing ACD, EDTA, or heparin and then spotted and dried on 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 a minimum of 3 hours.
3. Do not expose specimen to heat or direct sunlight.
4. Do not stack wet specimens.
5. Keep specimen dry.
Additional Information:
1. For collection instructions, see Blood Spot Collection Instructions in Special Instructions.
2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.
3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.
Special Instructions Library of PDFs including pertinent information and forms related to the test
- Biochemical Genetics Patient Information
- Blood Spot Collection Card-Spanish Instructions
- Newborn Screening Act Sheet Fabry Disease: Decreased Alpha-Galactosidase A
- Newborn Screening Act Sheet Gaucher Disease: Decreased Acid Beta-Glucosidase
- Newborn Screening Act Sheet Krabbe Disease: Decreased Galactocerebrosidase
- Newborn Screening Act Sheet Mucopolysaccharidoses Type I: Decreased Alpha-L-Iduronidase
- Newborn Screening Act Sheet Niemann-Pick A/B Disease: Decreased Acid Sphingomyelinase
- Newborn Screening Act Sheet Pompe Disease: Decreased Acid Alpha-Glucosidase
- Newborn Screening Act Sheet X-linked Adrenoleukodystrophy: Increased Very Long Chain Fatty Acids
- Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy
- Newborn Screen Follow-up for Pompe Disease
- Newborn Screen Follow-up for Niemann Pick Type A and B
- Newborn Screen Follow-up for Mucopolysaccharidosis Type I
- Newborn Screen Follow-up for Gaucher Disease
- Blood Spot Collection Card-Chinese Instructions
- Blood Spot Collection Instructions
Forms
1. Biochemical Genetics Patient Information (T602) in Special Instructions.
2. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:
-General Request (T239)
Specimen Minimum Volume Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory
Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected
| Shows serum rings; Insufficient specimen | Reject |
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole blood | Refrigerated (preferred) | 56 days | FILTER PAPER |
| Frozen | 56 days | FILTER PAPER | |
| Ambient | 7 days | FILTER PAPER |