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Test Code LDALD Lysosomal and Peroxisomal Disorders Newborn Screen, Blood Spot

Useful For

First-tier newborn screen for the lysosomal disorders: Fabry, Gaucher, Krabbe, mucopolysaccharidosis I (MPS I) and II (MPS II), infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency, and Pompe (glycogen storage disorder type II)

 

First-tier newborn screen for the peroxisomal disorder, X-linked adrenoleukodystrophy and may also detect Zellweger spectrum disorders

 

This test is supplemental and not intended to replace state-mandated newborn screening.

 

Test is not intended for metabolic screening of symptomatic patients.

Testing Algorithm

First-tier results will be reviewed, and second-tier screening performed at a clinical biochemical geneticist's discretion at no additional charge. This minimizes the false-positive rate and maximizes the positive predictive value of screening for these lysosomal disorders. 

The following algorithms are available:

-Newborn Screen Follow-up for Acid Sphingomyelinase Deficiency

-Newborn Screen Follow-up for Gaucher Disease

-Newborn Screen Follow-up for Mucopolysaccharidosis Type I

-Newborn Screen Follow-up for Pompe Disease

-Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy

-Newborn Screening Follow up for Mucopolysaccharidosis type II

If the patient has abnormal newborn screening results for X-linked adrenoleukodystrophy or a lysosomal disorder, immediate actions should be taken. Refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1)

Method Name

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

Reporting Name

LSD/X-ALD Newborn Screen, BS

Specimen Type

Whole blood


Ordering Guidance


Testing performed in the context of newborn screening only. For diagnostic testing or at a clinical biochemical geneticist's discretion, testing may be changed to PLSD / Lysosomal and Peroxisomal Disorders Screen, Blood Spot.



Necessary Information


Birth weight, time of birth, and gestational age are required.



Specimen Required


Patient must be older than 24 hours and younger than 1 week of age.

 

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: 2 Blood spots

Collection Instructions:

1. Completely fill at least 2 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 Minimum Volume

1 Blood spot

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Refrigerated (preferred) 90 days FILTER PAPER
  Frozen  90 days FILTER PAPER
  Ambient  28 days FILTER PAPER

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday through Sunday

Report Available

2 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
LDALD LSD/X-ALD Newborn Screen, BS 85267-3

 

Result ID Test Result Name Result LOINC Value
38521 LSD/X-ALD Newborn Screen Result 85268-1
38520 Reviewed By 18771-6
BG684 Birth Weight (grams, XXXX) 8339-4
BG685 Time of Birth (24hr Time, XX:XX) 57715-5
BG686 Gestational Age (weeks, XX.X) 76516-4

Forms

1. Biochemical Genetics Patient Information (T602)

2. If not ordering electronically, complete, print, and send 1 of the following with the specimen.

-Biochemical Genetics Test Request (T798)

-General Test Request (T239)