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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)


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

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

Reporting Name

Pompe Disease, 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
  Frozen  90 days
  Ambient  28 days

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

An interpretive report will be provided.

Day(s) Performed

Monday through Sunday

Report Available

2 to 3 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
PDBS Pompe Disease, BS 63416-2

 

Result ID Test Result Name Result LOINC Value
602290 Interpretation 59462-2
602300 Reviewed By 18771-6

Testing Algorithm

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