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Test Code PD2T Pompe Disease Second-Tier Newborn Screening, 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 (T493)

Acceptable: Ahlstrom 226 filter paper and Whatman Protein Saver 903 paper

Specimen Volume: 3 blood spots

Collection Instructions:

1. Do not use device or capillary tube containing EDTA to collect specimen.

2. Let blood dry on the filter paper at ambient temperature in a horizontal position for 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 in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.

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


Forms

Biochemical Genetics Patient Information (T602) in Special Instructions

Useful For

Second-tier testing of newborns with an abnormal primary screening result/decreased GAA enzyme for Pompe disease

 

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)

Reporting Name

Pompe Disease 2ND Tier NBS, BS

Specimen Type

Whole blood

Specimen Minimum Volume

Blood Spots: 1

Specimen Stability Information

Specimen Type Temperature Time
Whole blood Refrigerated (preferred) 56 days
  Frozen  56 days
  Ambient  7 days

Reject Due To

Hemolysis

NA

Lipemia

NA

Icterus

NA

Other

Blood spot that shows serum rings or has multiple layers.

Reference Values

An interpretive report is provided.

Day(s) and Time(s) Performed

Monday through Saturday; 4 p.m.

Sunday 1 p.m.

Analytic Time

2 days

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. 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 In Process

 

Result ID Test Result Name Result LOINC Value
48436 Interpretation In Process
48435 Reviewed By In Process
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

Testing Algorithm

See Newborn Screen Follow-up for Pompe Disease in Special Instructions