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Test ID LDALD Lysosomal and Peroxisomal Disorders Newborn Screen, Blood Spot

Useful For

First-tier newborn screen for the lysosomal disorders: Fabry, Gaucher, Krabbe, mucopolysaccharidosis I (MPS-I), Niemann-Pick types A and B, and Pompe (Glycogen storage disorder type II)

 

First-tier newborn screen for the peroxisomal disorder: X-linked adrenoleukodystrophy; may also detect Zellweger spectrum disorders

Highlights

Lysosomal storage disorders are a diverse group of inherited diseases characterized by the intracellular accumulation of macromolecules leading to cell damage and organ dysfunction.

 

Peroxisomal disorders such as X-linked adrenoleukodystrophy are caused by a defect in a single peroxisomal enzyme/transporter, whereas Zellweger syndrome spectrum (ZSS) disorders are caused by peroxisome biogenesis defects.

 

Due to the improved outcomes associated with presymptomatic intervention, some states have recently added select lysosomal storage disorders and peroxisomal disorders to their newborn screening programs.

 

Additional biochemical or molecular testing is required to confirm a diagnosis if enzyme deficiency is detected by this screening test.

Method Name

Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)

Reporting Name

LSD/X-ALD Newborn Screen, BS

Specimen Type

Whole blood


Necessary Information


Birth weight, time of birth, and gestational age are required.



Specimen Required


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) (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

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 in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.

2. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.


Specimen Minimum Volume

Blood spot: 1

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Refrigerated (preferred) 56 days FILTER PAPER
  Frozen  56 days FILTER PAPER
  Ambient  7 days FILTER PAPER

Reference Values

Not applicable

Day(s) and Time(s) Performed

Monday through Sunday; 11:30 a.m.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

83789

LOINC Code Information

Test ID Test Order Name Order LOINC Value
LDALD LSD/X-ALD Newborn Screen, BS In Process

 

Result ID Test Result Name Result LOINC Value
38521 LSD/X-ALD Newborn Screen Result 85268-1
38520 Reviewed By 18771-6
BG684 Birth Weight (grams, XXXX) 8339-4
BG685 Time of Birth (24hr Time, XX:XX) 57715-5
BG686 Gestational Age (weeks, XX.X) 76516-4

NY State Approved

Yes

Genetics Test 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.

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)

-Inborn Errors of Metabolism Test Request (T798)