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Test Code H72 Neonatal Metabolic Screen

Important Note

Specimen collection must be performed at least 24 hours after birth, and no later than five days after birth. Specimens collected before the prescribed time will be recalled for subsequent testing. All questions must be answered by indicating yes or no on the Iowa Neonatal Metabolic Screen request/sample collection form.

Additional Codes

MLAB: NMS

PowerChart: State Newborn Screen (Lab)

Epic: LAB480 Newborn Metabolic Screen

Test Method

17-Hydroxyprogesterone: Fluorometric

TSH: Fluorometric

Gal-1-Phosphate Uridyl Transferase: Fluorometric

Biotinidase: Wolfe Method

Amino Acids & Acylcarnitines: Tandem Mass Spectometry

Hemoglobin Phenotype: Isoelectric Focusing & HPLC

Immunoreactive Trypsinogen: Tandem Mass Spectrometry (MS/MS)

Severe Combined Immunodeficiency (SCID): DNA-Based PCR

Specimen Requirement

Whole blood - blood spot

Additional Specimen Collection Information

Specimen is collected via capillary puncture to the infant's heel. Drops of blood are allowed to soak into the filter paper circles on the request form provided by the State Hygienic Laboratory. All 5 circles must be filled and the blood must penetrate the filter paper completely to the opposite side of collection. Specimen must be dry before mailing.

SHL requisition form must have the following information completed on the form before delivery to laboratory:  infant's last name and first name, sex, first or repeat specimen, physician name, date and time of birth, feeding method (bottle/breast/npo/parenteral nutrition), mother's first and last name, mother's date of birth, date and time of collection, weight at time of collection, gestational age in weeks, transfusion within the last eight weeks and date of transfusion.

Performance

Allow 3-6 days turn around time.

Reference Values

17-Hydroxyprogesterone: Within Normal Limits

TSH: Within Normal Limits

Gal-1-Phosphate Uridyl Transferase: Within Normal Limits

Biotinidase: Within Normal Limits

Amino Acids & Acylcarnitines: Within Normal Limits

Hemoglobin Phenotype: (FA or AF) Normal

Immuoreactive Trysinogen: Within Normal Limits

Severe Combined Immunodeficiency (SCID): Within Normal Limits

 

This is a screening test. The possibility of a false negative or a false positive result must always be considered especially when screening newborns for metabolic disorders. Additional information about the disorders can be found in the INMSP Practitioners’ Manual at www.idph.state.ia.us/genetics.             
To order more request/sample collection forms call the State Hygienic Laboratory, Ankeny: (515) 725-1630.

CPT Code Information

82261 Chemistry: Biotinidase

82776 Chemistry: Galactose-1-phosphate uridyl transferase; screen

83020 Chemistry: Hemoglobin fractionation and quantitation; electrophoresis

83498 Chemistry: Hydroxyprogesterone

83789 Chemistry: MS/MS analyte not elsewhere specified; quantitative, each specimen

84443 Chemistry: Thyroid Stimulating hormone (TSH)

81479 Molecular Pathology Tier 2 Procedures: Unlisted molecular pathology procedure

 

Useful For

Iowa neonatal screening program protocol detects congenital adrenal hyperplasia, primary hypothyroidism, biotinidase deficiency, galactosemia, hemoglobinopathies, cystic fibrosis, expanded screening disorders and SCID.

LOINC Code Information

46738-1 Genetic.Disorders Newborn Screen Interpretation