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Test 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)

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 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 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).


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).

Secondary ID

65332

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, BS

Specimen Type

Whole blood

Specimen Minimum Volume

2 Blood spots

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 specimen that shows serum rings or has multiple layers/applications Reject
Insufficient specimen Reject

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday through Saturday

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

82542

81401

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

Testing Algorithm

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