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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)


Children's Mercy Hospital Note:

CMS COLECTION: Completely fill at least 2 circles on the filter paper card.

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

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)

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

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

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

Day(s) Performed

Monday through Sunday

Report Available

2 days

Reporting Name

Lysosomal/Peroxisomal D/O Scrn, BS

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

Method Name

Flow Injection Analysis Tandem Mass Spectrometry (MS/MS)

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

83789