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

Useful For

Evaluation of patients with a clinical presentation suggestive of a lysosomal storage disorder, specifically Gaucher, Niemann-Pick type A or type B, Pompe, Krabbe, Fabry disease, or mucopolysaccharidosis I; or a peroxisomal disorder, either X-linked adrenoleukodystrophy or Zellweger syndrome spectrum

Highlights

This is a screening test performed from a blood spot for a select number of lysosomal and peroxisomal disorders, including Gaucher disease, Fabry disease, Pompe disease, Krabbe disease, Niemann-Pick diseases A and B, mucopolysaccharidosis type I, Zellweger syndrome spectrum, and X-linked adrenoleukodystrophy.

 

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

Lysosomal/Peroxisomal D/O Scrn, BS

Specimen Type

Whole blood


Ordering Guidance


To evaluate adult patients with a clinical presentation suggestive of adrenomyeloneuropathy, the recommended test is POX / Fatty Acid Profile, Peroxisomal (C22-C26), Serum. Lysophosphatidylcholine concentrations may not be consistently elevated in adult blood spots.



Specimen Required


Supplies: Card-Blood Spot Collection (Filter Paper) (T493)

Container/Tube:

Preferred: Card-Blood Spot Collection (Filter Paper)

Acceptable: PerkinElmer 226 (formerly 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. An alternative blood collection option for a patient older than 1 year of age is fingerstick. See Dried Blood Spot Collection Tutorial for how to collect blood spots via fingerstick: https://vimeo.com/508490782 .

2. Completely fill at least 2 circles on the filter paper card (approximately 100 microliters blood per circle).

3. Let blood dry on the filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.

4. Do not expose specimen to heat or direct sunlight.

5. Do not stack wet specimens.

6. 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.


Specimen Minimum Volume

1 Blood spot

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

Disease

Marker

Normal range

Gaucher

Acid beta-glucosidase

≥1.75 nmol/mL/hr

Niemann-Pick A/B

Sphingomyelinase

≥2.5 nmol/mL/hr

Pompe

Acid alpha-glucosidase

≥3.0 nmol/mL/hr

Krabbe

Galactocerebrosidase

≥0.4 nmol/mL/hr

Fabry

Alpha-galactosidase

≥2.75 nmol/mL/hr

MPS I

Alpha-L-iduronidase

≥2.0 nmol/mL/hr

NA

C20 Lysophosphatidylcholine

≤1.00 mcg/mL

NA

C22 Lysophosphatidylcholine

≤0.25 mcg/mL

ALD/PBD/ALDH

C24 Lysophosphatidylcholine

≤0.30 mcg/mL

ALD/PBD/ALDH

C26 Lysophosphatidylcholine

≤0.30 mcg/mL

 

Day(s) Performed

Monday through Sunday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

83789

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PLSD Lysosomal/Peroxisomal D/O Scrn, BS In Process

 

Result ID Test Result Name Result LOINC Value
34811 Acid Beta-Glucosidase 55917-9
34812 Sphingomyelinase 62316-5
34813 Acid Alpha-Glucosidase 55827-0
34814 Galactocerebrosidase 62310-8
34815 Alpha-Galactosidase 55908-8
34816 Alpha-L-Iduronidase 55909-6
34817 C20 Lysophosphatidylcholine 90920-0
34818 C22 Lysophosphatidylcholine 90921-8
34819 C24 Lysophosphatidylcholine 90922-6
34820 C26 Lysophosphatidylcholine 90923-4
34821 Interpretation (PLSD) 62301-7
34822 Reviewed By 18771-6

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 US Food and Drug Administration.

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
MPSBS Mucopolysaccharidosis, BS Yes No
PSY Psychosine, BS Yes No
GPSY Glucopsychosine, BS Yes No
OXYBS Oxysterols, BS Yes No
LPCBS LysoPC by LC MS/MS, BS Yes No
PDBS Pompe Disease, BS Yes No
LGBBS Globotriaosylsphingosine, BS Yes No

Report Available

2 to 8 days

NY State Approved

Yes

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602) in Special Instructions

3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.