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HelpTest Code KD2T Krabbe Disease Second-Tier Newborn Screen, 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)
Collection Container/Tube:
Preferred: Blood Spot Collection Card (T493)
Acceptable: Ahlstrom 226 filter paper, Munktell filter paper, Whatman Protein Saver 903 paper, or blood collected in tubes containing heparin or EDTA and dried on filter paper.
Specimen Volume: 3 blood spots
Collection Instructions:
1. Completely fill at least 3 circles on the filter paper card (approximated 100-microliters blood per circle).
2. Let blood dry on filter paper at room temperature in a horizontal position for 3 or more 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 in Special Instructions.
2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.
3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.
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 in Special Instructions:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Biochemical Genetics Patient Information (T602) in Special Instructions.
3. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.
Useful For
Second-tier testing of newborns with an abnormal screening result for Krabbe disease
Follow-up testing after an abnormal newborn screening result for Krabbe disease
Method Name
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)/Polymerase Chain Reaction with Gel Electrophoresis
Reporting Name
Krabbe Disease 2ND Tier NBS, BSSpecimen Type
Whole bloodSpecimen Minimum Volume
Blood spot: 2
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole blood | Ambient (preferred) | 96 days | FILTER PAPER |
| Frozen | 96 days | FILTER PAPER | |
| Refrigerated | 96 days | FILTER PAPER |
Reject Due To
| Blood spot | Shows serum rings Insufficient specimen |
Reference Values
An interpretive report will be provided.
Day(s) and Time(s) Performed
Patients over 6 weeks of age; Tuesday, Friday; 12 p.m.
Patients 6 weeks of age or younger: Monday through Saturday; 4 p.m., Sunday; 1 p.m.
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. This test has not been cleared or approved by the U.S. Food and Drug Administration.CPT Code Information
82542-Psychosine
81401-30-kb deletion
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| KD2T | Krabbe Disease 2ND Tier NBS, BS | 62309-0 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 48536 | Interpretation | 62309-0 |
| 48535 | Reviewed By | 18771-6 |
| BG704 | Birth Weight (grams, XXXX) | 8339-4 |
| BG705 | Time of Birth (24hr Time, XX:XX) | 57715-5 |
| BG706 | Gestational Age (weeks, XX.X) | 76516-4 |
Special Instructions
- Informed Consent for Genetic Testing
- Biochemical Genetics Patient Information
- Blood Spot Collection Card-Spanish Instructions
- Newborn Screening Act Sheet Krabbe Disease: Decreased Galactocerebrosidase
- Blood Spot Collection Card-Chinese Instructions
- Informed Consent for Genetic Testing (Spanish)
- Blood Spot Collection Instructions
Testing Algorithm
For more information, see Newborn Screening Act Sheet Krabbe Disease: Decreased Galactocerebrosidase in Special Instructions.