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Test Code NEONAT Newborn Metabolic Screen, LAB480

Additional Codes

 

EPIC Test ID

LAB480

 

Performing Laboratory

State Hygienic Laboratory, Ankeny, Iowa

Specimen Requirements

Specimen blood spots collected on a newborn metabolic screening collection form, typically drawn via infant heelstick.  

 

The baby must be a minimum of 24 hours + 1 minute for age at the time of collection.   

 

Apply only ONE LARGE drop, approximately 50 – 75µL in volume, of blood to each circle. The filled circle size should be at least one-half inch in diameter. 

 

Specimens applied to the circles must not contain any anticoagulants or additives.

 

Testing is permitted only for infants up to 30 days of age, unless specifically requested by INMSP for patients older than 30 days.

 

Note:  Ensure blood has completely filled circle and that it has soaked through to the other side.  Avoid spreading the blood drop over the surface of the circle, contributing to uneven absorption.  Avoid allowing filter paper to come in contact with gloved or ungloved hand or substances such as hand lotion or powder, either before or after specimen collection.  Specimens that are insufficient, layered, clotted, collected too early or contaminated will be rejected for testing.

 

 

Reference Values

Hypothyroidism:   Within Normal Limits  

Galactosemia:  Within Normal Limits

Hemoglobinopathy:  FA

Hemoglobinopathy Int:  Within Normal Limits

Cong Adrenal Hyperplasia:  Within Normal Limits

Biotinidase:  Within Normal Limits

Cystic Fibr Immuno T:  Within Normal Limits

Expanded Scn Disorders:  No abnormal analyte detected

Expnd Disorders Int:   Within Normal Limits              

Immunodeficiency Int:  Within Normal Limits                

 

NOTE:  This is a screening test. The possibility of a false negative or a false positive result must always be considered when screening newborns for metabolic disorders. Disorder information is available
in the Practitioners' Manual at www.idph.state.ia.us/genetics.  Consultants: Congenital Adrenal Hyperplasia and Hypothyroidism 319/356-2838; Galactosemia, Phenylketonuria and Biotinidase 319/384-5097; Hemoglobin Disorders 319/356-1400; Expanded Screening Disorders 319/384-5097.
 

Expanded Screening Disorders: Analytes Screened: Analytes refer to amino acids: (ARG) Arginine, (ASA) Argininosuccinic Acid, (CIT) Citrulline, (LEU) Leucine, (MAA) Multiple Amino Acids, (MET) Methionine, (PHE) Phenylalanine, (SA) Succinylacetone, (TYR) Tyrosine, (VAL) Valine and acylcarnitines: LOW C0, HI C0, C3, C3-DC, C4, C4-DC, C4-OH, C5, C5:1, C5-DC, C5-OH, C6, C6-DC, C8, C10, C10:1, C14, C14:1, C16, C16-OH, C16-OH/C16, C16:1-OH, C0/C16, C18:1, C18-OH, C18:1-OH, (MAC) multiple acylcarnitines.
    
   

 

 

Day(s) Test Set Up

Specimens are shipped to INMSP daily.  Results are typically available approximately 3 - 5 days after collection.

Methodology

Methodology information may be obtained by contacting SHL.

Test Classification and CPT Coding

82261

82776

83020

83498

83516

83789

84443

81479