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Order 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

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 temperature above ambient Reject

Reference Values

An interpretive report will be provided.

Method Description

Three 1/8-inch dried blood spots (DBS) are excised from a single specimen. The enzymes are extracted from 2 DBS by incubating the specimens with a mix of substrate and internal standard for acid sphingomyelinase, beta-glucocerebrosidase, alpha-glucosidase, alpha-galactosidase, galactocerebrosidase, alpha-L-iduronidase, and iduronate 2-sulfatase. The sample is then purified by liquid-liquid extraction. The third DBS is extracted with methanol containing d4-C26 lysophosphatidylcholines. The resulting extracts are then combined, evaporated, and reconstituted before analysis by tandem mass spectrometry.(Tortorelli S, Turgeon C, Gavrilov D, et al: Simultaneous testing for 6 lysosomal disorders and X-adrenoleukodystrophy in dried blood spots by tandem mass spectrometry. Clin Chem. 2016;62[9]:1248-1254)

Day(s) Performed

Monday through Sunday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

83789

Genetics Test Information

Lysosomal disorders are a diverse group of inherited diseases characterized by the intracellular accumulation of macromolecules leading to cell damage and organ dysfunction.

 

Peroxisomal disorders, such as X-linked adrenoleukodystrophy are caused by a defect in a single peroxisomal enzyme/transporter, whereas Zellweger spectrum disorders are caused by peroxisome biogenesis defects.

 

Due to the improved outcomes associated with presymptomatic intervention, some states have recently added select lysosomal disorders and peroxisomal disorders to their newborn screening programs.

 

Additional biochemical or molecular testing is required to confirm a diagnosis if enzyme deficiency is detected by this screening test.

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)