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Test Code BDSP0017 Newborn Metabolic Screen

Useful For

Potentially identifying metabolic diseases and disorders in newborns before preventable symptoms and complications arise

Profile Information


Screening Tests Methodology
Acylcarnitine Disorders* Tandem Mass Spectrometry
  Fatty Acid Oxidation Profile
    Carnitine Uptake Defect
    Long Chain L-3-Hydroxyacyl CoA Dehydrogenase Deficiency (LCHAD)
    Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
    Trifunctional Protein Deficiency (TFP)
    Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
  Organic Acidemias Profile
    3-OH 3-CH3 Glutaric Aciduria
    3-Methylcrotonyl-CoA Carboxylase Deficiency
    β-ketothiolase Deficiency
    Glutaric Acidemia Type I
    Isovaleric Acidemia
    Methylmalonic Acidemia (Cbl A and B)
    Methylmalonic Acidemia (mutase deficiency)
    Multiple CoA Carboxylase Deficiency (MCD)
    Proprionic Acidemia
Amino Acid Disorders* Tandem Mass Spectrometry
  Citrullinemia/Argininosuccinic acidemia (ASA) (Citrulline)
  Homocystinuria (Methionine) (due to CBS deficiency)
  Maple Syrup Urine Disease (Leucine)
  Tyrosinemia type I (Succinylacetone)
  Tyrosinemia Type II & III (Tyrosine)
Biotinidase Enzyme Deficiency Biochemical Colorimetric Assay
Galactosemia Fluorometric Assay
Congenital Adrenal Hyperplasia (17-OHP) Immunofluoresence Assay
  21 hydroxylase deficiency
Congenital Hypothyroidism T4, TSH reflex analysis
  Thyroxine (T4) testing, TSH reflex testing
Cystic Fibrosis

Immunoreactive Trypsinogen (IRT)/

Confirmatory DNA Mutational Analysis as warranted*

Phenylketonuria (PKU) (Phenylalanine) Immunofluorescence Assay

Isoelectric Focusing (IEF)/

HPLC reflex testing*


  Hb S/B-thalassemia
  Hb SC disease
  Hb SS disease (Sickle cell anemia)
Severe Combined Immunodeficiency (SCID-Immunodeficiency: TREC)* Real-Time PCR

* Tests referred to the Wisconsin State Newborn Screening Laboratory


Performing Laboratory

Montana State Public Health Laboratory/Wisconsin State Newborn Screening Laboratory

Specimen Requirements

Specimen Type: Dried Blood Spots
Container/Tube: Montana DPHHS Laboratory supplied Newborn Screening Card
Specimen Minimum Volume: Circles must be completely filled

Collection Instructions:


1. Sterilize and dry skin. Puncture heel with sterile lancet.

2. Allow large blood droplet to form.

3. Touch filter paper to blood and allow to soak through completely in each circle. Total saturation of the circles must be evident when the paper is viewed on both sides. Do not apply blood to both sides.

4. Be certain to properly fill all 5 circles on the card. These need to all be satisfactory spots.

5. Use of capillary tubes is not recommended because they tend to roughen the filter paper and cause over absorption.

6. Allow blood spots to air dry thoroughly for 2-3 hours at room temperature. Keep away from direct sunlight and heat. Do not stack filter papers before thorough drying. Protective cover can be used to hold specimen while drying.

7. Cover with end flap only after specimen is completely dry.

8. Inspect the dried blood spots for adequacy prior to transport. Do not send unsatisfactory specimens.

9. Transport specimen by mail or courier at ambient temperature within 24 hours of collection.

Specimen Rejection:

Specimens will be rejected for any of the following:

1.  All circles not completely filled (QNS)

2.  Blood is layered by application on both sides or by multiple spotting.

3.  Filter paper is scuffed or torn.

4.  Specimen is contaminated or improperly dried.

5.  Information is incomplete

6.  Specimens not received at Montana State Laboratory within 7 days of collection.

Specimen Transport Temperature


Specimen Stability


Specimen Type Temperature Time
Dried Blood Spots Ambient 72 hours


Additional Infomation

Specimens must be transported in a timely manner.  Several newborn-screened conditions not promptly identified can adversely affect the infant’s health in the first week of life.

Reference Values

Test Normal Range
PKU <188 umol/L
Galactosemia >3.0 u/gHb
Congenital Hypthyroidism (T4) >6.0 ug/dL
Hemoglobinopathies Normal [F+A]
Cystic Fibrosis <80.1
Fatty Acid Oxidation Profile Normal
Organic Acidemias Profile Normal
Biotinidase Deficiency Enzyme Enzyme Present
Congenital Adrenal Hyperplasia Weight Dependent (ng/mL)
Maple Syrup Urine Disease (Leucine) <305 umol/L
Homocystinuria (Methionine) <75 umol/L
Citrullinemia/ASA (Citrulline) <55 umol/L
Tyrosinemia Type I (Succinylacetone) <5.42 umol/L
Tyrosinemia Type II &III (Tyrosine) <360 umol/L
SCID-Immunodeficiency ≥75 copies/uL

Abnormal results are telephoned to the medical provider.

Day(s) Test Set Up

Monday through Friday


Turnaround Time: 3-5 working days. 

Test Classification and CPT Coding

82017- Acylcarnitine Disorders

82136- Amino Acid Disorders

82261- Biotinidase

82775- Galactosemia

83498- CAH

84437- CH

83516- IRT

84030- PKU

83020- Hemoglobinopathies

81479- SCID