Clinics and Departments

Laboratory Services

Lab Dept:

Chemistry

Test Name:

NEWBORN METABOLIC SCREEN, MINNESOTA

General Information

Lab Order Codes:

PKUN

Synonyms:

Newborn Screen for Hyopothyroidism, Phenylketonuria (PKU), Galactosemia, Hemoglobinopathy, and Congential Adrenal Hyperplasia (CAH); Congential Adrenal Hyperplasia; Galactosemia Screen ; Hemoglobinopathy Screen; Hypothyroidism Screen; Inborn Errors of Metabolism Screen; Newborn Metabolic Screening; Phenylketonuria Screen; PKU Screen; Amino Acidemia; Fatty Acid Oxidation; Organic Acidemias; Cystic Fibrosis; PKU/Thyroid Newborn Screen

CPT Codes:

82776 – Galactosemia; galactose-1-phoshate uridyltransferase; screen
82760 – Galactosemia; Total Galactose
83020 – Hemoglobinopathies; Hemoglobin fractionation and quantitation; electrophoresis
83788 – Amino Acidemias/Fatty Acid Oxidation/Organic Acidemias; Mass spectrometry and tandem mass spectrometry, analyte not elsewhere specified, qualitative, each specimen
84443 - Congenital Hypothyroidism; Thyroid stimulating hormone
83498 – Congenital Adrenal Hyperplasia; Hydroxyprogesterone, 17-d
83516 – Cystic Fibrosis; Immunoassay for analyte other than infectious agent antibody or infectious agent antigen, qualitative or semiquantitative; multiple step method
82261 – Biotinidase; Biotinidase, each specimen

Test Includes:

Amino Acidemia Screen including: Phenylketonuria, Maple Syrup Disease, Citrullemia, Arginosuccinic Aciduria, Homocystinuria, Arginemia, Tyrosinemia Type I; Congenital Adrenal Hyperplasia Screen; Hypothyroid Screen (TSH), Fatty Acid Oxidation Screen including: Very Long Chain Acyl-CoA Dehydrogenase Deficiency, Medium Chain Acyl-CoA Dehydrogenase Deficiency, Short Chain Acyl-CoA Dehydrogenase Deficiency, Long Chain Hydrozy Acyl-CoA Dehydrogenase Deficiency, Carnitine/Acylcarnitine Traslocase Deficiency, Carnitine Palmitoyl Transerase II Deficiency, Hydroxy Acyl-CoA Dehydrogenase 3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase Deficiency; Galactosemia Screen, Hemoglobinopathy Screen, Organic Acidemia Screen including: Glutaric Acidemia Type I, Propionic Acidemia, Methylmalonic Acidemia, Isovaleric Acidemia, 3-Methyl-Crotonyl-CoA Carboxylase Deficiency, 3-Hydroxy-Methyl-Glutaryl-CoA Lyase Deficiency; Cystic Fibrosis; Biotinidase; Galactose

Logistics

Test Indications:

State of Minnesota requires newborn screening for common metabolic disorders or disease states which can lead to clinical consequences such as mental retardation, hemolytic episodes, and death.

See Special Instructions for more information.

Lab Testing Sections:

Chemistry - Sendouts

Referred to:

Minnesota Department of Health

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

Daily, 24 hours

Turnaround Time:

5 - 7 days, test set up Monday - Friday

Special Instructions:

Infants >1800 grams at birth:
Newborn screening should be collected between 24-48 hours after birth. Infants <24 hours old requiring a red cell transfusion should have a newborn screening card collected prior to transfusion. A second card should be collected at the normal time when the infant is >24 hours old. The second card should indicate that the sample is post-transfusion. Depending on the results, a third card may be required 2 months post transfusion.

Infants <24 hours old who are transfused, but NO card was collected prior to transfusion should have a card collected at the normal time when the infant is >24 hours old. That card should indicate post transfusion. A second collection may be required may be required 2 months post transfusion depending on the Newborn Screening Results.

Infants <1800 grams at birth:
Infants weighing less than 1800 grams should have three newborn screens collected. An initial screen should be collected between 24 and 48 hours of age and subsequent specimens should be collected at 14 and 30 days of age. If an infant requires a transfusion prior to 24 hours of age, a specimen should be collected pre-transfusion, but the second specimen will not be collected until 14 days of age. If an infant is discharged prior to this time when a subsequent screen would be done, the specimen should be collected at the time of discharge. In order to help keep track of specimens from infants weighing less than 1800 grams, special yellow NICU newborn screening cards have been printed. They can be ordered through the Financial Management area of the Minnesota Department of Health, just like traditional cards are ordered.

Specimen

Specimen Type:

Whole blood

Container:

Minnesota Department of Health specimen collection card

Draw Volume:

Approximately 0.5 mL blood

Processed Volume:

5 completely filled circles on specimen card

Collection:

Warm the heel. Sterilize skin and allow to thoroughly air dry. Puncture heel with sterile, disposable lancet, using a firm, quick stab making a 1mm incision, 2.5 mm long. For premies, it is safer to make the incision more shallow. Allow a large drop of blood to accumulate and wipe away with sterile gauze. Allow a second large drop of blood to accumulate. Apply the second drop to the reverse side of the filter paper until the circle is filled completely when viewed from the other side. Avoid repeated applications to filter paper to fill one circle. Allow circles to fill by natural flow. Do not touch filter paper to puncture site. Avoid squeezing tissue to obtain blood as this may dilute the specimen. Avoid touching blood collection area of filter paper prior to, during, and following sampling. Completely fill all circles on the filter paper collection form. Allow blood spots to air dry for a minimum of three (3) hours. Do Not expose to heat or moisture

Note: For all patients a heel stick is the preferred standard method of collection yielding the highest quality results. Poor quality specimens place an unnecessary burden on the screening facility, cause unnecessary trauma to the infant and anxiety to the infant’s parents, potentially delay the detection and treatment of the affected infant, and may contribute to a missed or late diagnosed case. Premies and sick newborns: If appropriate, a heel stick can also be used for this patient population. However, if indicated, blood can be drawn from an umbilical catheter line. Make sure to draw off 2-2.5 mL’s before collecting the newborn screening specimen. Collect the blood in a syringe and apply it to the circles immediately to avoid blood clots that would make the specimen unsatisfactory. Each circle holds 0.1 mL’s of blood.

The filter paper cannot have multiple applications of blood, each spot needs to be filled from a one time application.

See Special Instructions for information on timing of collections.

Special Processing:

Do Not dry specimen under a lamp.

Please complete all the information requested on the collection card: mother’s full name, baby’s name, baby’s date of birth, birth-weight, hospital of birth and time of specimen collection.

Do Not fold filter paper or form

Patient Preparation:

See Collection

Sample Rejection:

Multiple applications of blood to the filter paper; less than 5 circles filled on the collection filter paper; specimens collected from a syringe

Interpretive

Reference Range:

Galactosemia

negative (galactose: none detected)

Hemoglobinopathy

normal (hemoglobin isoelectric focusing shows normal pattern)

Hypothyroidism

negative

Other Amino Acidemias

negative

Fatty Acid Oxidation

negative

Cystic Fibrosis

negative

Organic Acidemias

negative

Biotinidase

negative

Congential Adrenal Hyperplasia

negative

Critical Values:

Any positive or abnormal

Limitations:

N/A

Methodology:

Congenital Hypothyroidism: TSH/17OHP: fluoroimmunoassay
Congenital Adrenal Hyperplasia
: Quantitative time-resolved fluoroimmunoassay
Cystic Fibrosis
: Immunoreactive Trypsinogen with PCR follow-up for positives
Galactosemia
/Galactose-1 phoshate uridyltransferase: Enzyme by semi-quantitative fluorometric assay; Total Galactose: Quantitative fluorometric assay
Hemoglobinopathies
: isoelectric focusing
Biotinidase
: Biotinidase enzyme by qualitative colorimetric assay
Amino Acidemias
: Tandem Mass Spectrometry (MS/MS)
Organic Acidemias
: Tandem Mass Spectrometry (MS/MS)
Fatty Acid Oxidation
: Tandem Mass Spectrometry (MS/MS)

References:

Minnesota Department of Health May 2011

Updates:

1/17/2006: Added information regarding patients under 1800 grams and collection procedure changes for them.

3/8/2006: Updated with additional information regarding addition of CF to the screen on 3/1/2006. Also the addition of 83516 as the CPT code for this test.
9/30/2008: Heel stick/line draw clarification confirmed by MN Dept of Health.
11/10/2010: Update for collection procedures for specimens > and < 1800 grams.



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