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Test Code PLSD Lysosomal and Peroxisomal Disorders Screen, Blood Spot


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: Blood Spot Collection Card

Acceptable: PerkinElmer 226 filter paper, Munktell filter paper, Whatman Protein Saver 903 paper, local newborn screening card, or blood collected in tubes containing ACD or EDTA 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 is a fingerstick. For detailed instructions, see How to Collect Dried Blood Spot Samples.

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

2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777)

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


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:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602)

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

Useful For

Evaluation of patients with a clinical presentation suggestive of a lysosomal disorder, specifically Gaucher, infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency,, Pompe, Krabbe, or Fabry disease, or mucopolysaccharidosis I or II; or a peroxisomal disorder, either X-linked adrenoleukodystrophy or Zellweger spectrum disorders

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

Method Name

Flow Injection Analysis Tandem Mass Spectrometry (MS/MS)

Reporting Name

Lysosomal/Peroxisomal D/O Scrn, BS

Specimen Type

Whole blood

Specimen Minimum Volume

1 Blood spot

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Refrigerated (preferred) 90 days FILTER PAPER
  Frozen  90 days FILTER PAPER
  Ambient  28 days FILTER PAPER

Reject Due To

Blood spot specimen that shows serum rings or has multiple layers Reject
Insufficient specimen Reject
Specimens known to have been exposed to elevated temperatures above ambient Reject

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

≥2.00nmol/mL/hr

MPS I

Alpha-L-iduronidase

≥1.5 nmol/mL/hr

MPS II

Iduronate 2-sulfatase

≥4.0 nmol/mL/hr

NA

C20 Lysophosphatidylcholine

≤1.81 nmol/mL

NA

C22 Lysophosphatidylcholine

≤0.43 nmol/mL

ALD/PBD/ALDH

C24 Lysophosphatidylcholine

≤0.49 nmol/mL

ALD/PBD/ALDH

C26 Lysophosphatidylcholine

≤0.47 nmol/mL

Day(s) Performed

Monday through Sunday

Report Available

2 days

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. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

83789

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PLSD Lysosomal/Peroxisomal D/O Scrn, BS 105458-4

 

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
620785 Iduronate 2-Sulfatase 79462-8
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

Testing Algorithm

First-tier results will be reviewed, and second-tier screening performed at a clinical biochemical geneticist's discretion at an additional charge. This minimizes the false-positive rate and maximizes the positive predictive value of screening for these disorders.

 

For more information see:

Newborn Screen Follow up for Fabry Disease

Newborn Screen Follow-up for Gaucher Disease

Newborn Screen Follow-up for Mucopolysaccharidosis Type I

Newborn Screen Follow-up for Pompe Disease

Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy

 

If the patient has abnormal newborn screening results for X-linked adrenoleukodystrophy or a lysosomal disorder, immediate actions should be taken. Refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1)