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Test Code PD2T Pompe Disease Second-Tier Newborn Screening, Blood Spot

Reporting Name

Pompe Disease 2ND Tier NBS, BS

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

Second-tier testing of newborns with an abnormal primary screening result for Pompe disease (decreased acid alpha-glucosidase enzyme activity)

 

Follow-up testing for evaluation of an abnormal newborn screening result for Pompe disease

Method Name

Flow Injection Analysis Tandem Mass Spectrometry (FIA-MS/MS)


Ordering Guidance


Due to reference range differences, this is the appropriate test for patients less than or equal to 6 weeks of age. For patients greater than 6 weeks of age, order PDBS / Pompe Disease, Blood Spot.



Necessary Information


1. Birth weight (grams)

2. Time of birth (24-hour time)

3. Gestational age (weeks)



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 then spotted and dried on filter paper.

Specimen Volume: 3 Blood spots

Collection Instructions:

12. Completely fill at least 3 circles on the filter paper card (approximately 100 microliters blood per circle).

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

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

4. Do not stack wet specimens.

5. 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).


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.

Interpretation

The quantitative measurements of informative metabolites and related ratios are evaluated using the Collaborative Laboratory Integrated Reports (CLIR) system. The report is in text form only, indicating if the applicable ratio is normal or abnormal and whether the CLIR postanalytical tool is informative for Pompe disease. Abnormal results are not sufficient to conclusively establish a diagnosis of a particular disease. To verify a preliminary diagnosis, independent biochemical (ie, in vitro enzyme assay) or molecular genetic analyses are required, many of which are offered within Mayo Clinic Laboratories. Recommendations for additional biochemical testing and confirmatory studies (enzyme assay, molecular analysis) are provided in the interpretative report.

Day(s) Performed

Monday through Saturday

Report Available

2 to 3 days

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
PD2T Pompe Disease 2ND Tier NBS, BS 63416-2

 

Result ID Test Result Name Result LOINC Value
48436 Interpretation 63416-2
48435 Reviewed By 18771-6
BG700 Birth Weight (grams, XXXX) 8339-4
BG701 Time of Birth (24hr time, XX:XX) 57715-5
BG702 Gestational Age (weeks, XX.X) 76516-4

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.

Testing Algorithm

If the patient has abnormal newborn screening result for Pompe disease, immediate action should be taken. Refer to the appropriate ACMG Newborn Screening ACT Sheet.(1)

 

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