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Test Code PDBS Pompe Disease, Blood Spot


Ordering Guidance


Due to reference range differences, this is the appropriate test for patients older than 6 weeks of age. For patients 6 weeks of age or younger, order PD2T / Pompe Disease Second-Tier Newborn Screening, Blood Spot.



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 filter paper

Specimen Volume: 3 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 3 circles on the filter paper card (approximately 100 microliters blood per circle).

3. Let blood dry completely 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:

CMH COLLECTION: Collect 3 blood spots on filter paper

Specimen Minimum Volume

1 Blood spot

Specimen Stability Information

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

Testing Algorithm

For information see Newborn Screen Follow-up for Pompe Disease.

Useful For

Evaluating patients with a clinical presentation suggestive of Pompe disease (muscle hypotonia, weakness, or cardiomyopathy) outside of the newborn screening setting

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 to 3 days

Reporting Name

Pompe Disease, BS

Reference Values

An interpretive report will be provided.

Method Name

Flow Injection Analysis Tandem Mass Spectrometry (MS/MS)

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

83789