Test Code LAB480 Newborn Blood Spot 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) | |||
Maple Syrup Urine Disease (Valine) | |||
MSUD (Leucine/Phenylalanine) | |||
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 | Immunofluoresence Assay | ||
Thyroxine (T4) testing, TSH testing | |||
Cystic Fibrosis |
Immunoreactive Trypsinogen (IRT)/ Confirmatory DNA Mutational Analysis as warranted* |
||
Phenylketonuria (PKU) (Phenylalanine) | Immunofluorescence Assay | ||
Hemoglobinopathies |
Isoelectric Focusing (IEF)/ HPLC reflex testing*
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Hb S/B-thalassemia | |||
Hb SC disease | |||
Hb SS disease (Sickle cell anemia) | |||
Severe Combined Immunodeficiency (SCID-Immunodeficiency: TREC)* | Real-Time PCR | ||
Spinal Muscular Atrophy (SMN1)* |
* Testing 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
Ambient
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
See results report.
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
81329-SMN1