NEWBORN SCREENING
The panel of testing for Newborn Screening will be contracted out in accordance with State of Maine, Division of Purchases guidelines. The price for testing will be determined by the accepted vendor bid and the price will include necessary administrative fees necessary to manage the contract and the program.
Currently the panel includes the following conditions:
Core Conditions:
· Isoelectric focusing for hemoglobin analysis (for hemoglobinopathies including sickle cell disease and trait)
· Tandem Mass Spectrometry Analysis, for:
· Phenylalanine (for PKU)
· Leucine (for MSUD)
· Methionine (for Homocystinuria)
· Medium Chain Acyl CoA Dehydrogenase Deficiency (MCAD)
· Paigen test or equivalent fluorometric enzymatic assay for galactose (for galactosemia)
· DELFIA for thyroxine (T4) (for congenital hypothyroidism)
· DELFIA for thyrotropin (TSH) on all specimens with borderline or low (T4) levels (for congenital hypothyroidism)
· DELFIA for 17-hydroxyprogesterone (17-OHP) Congenital Adrenal Hyperplasia
· Deficiency enzyme analysis for Biotinidase
Optional Expanded Panel
· Amino Acid Disorders:
· Tyrosinemia Type I
· Tyrosinemia Type II
· Urea Cycle Disorders:
· HHH-Hyperammonemia Hyperornithinemia Homocitrullinemia (HHH syndrome)
· ASL-Argininosuccinic Aciduria
· ASS-Citrullinemia
· Argininemia
· Fatty Acid Oxidation disorders:
· SCAD-Short Chain acyl-CoA Dehydrogenase Deficiency|
· V/LCAD-Very Long Chain acyl-CoA Dehydrogenase Deficiency
· LCHAD-Long-Chain Hydroxy-CoA Dehydrogenase Deficiency
· CPT II- Carnitine Palmitoyl Transferase Deficiency Type II
· GA II-Glutaric Acidemia II
· Organic Acidemias
· PPA-Propionic Acidemia
· MMA-Methylmalonic Aciduria
· GA I-Glutaric Acidemia I
· IVA-Isovaleric Acidemia
· HMG-HMG CoA Lyase Deficiency
· B-KT-B-Ketothiolase Deficiency
· MMC-B-Methyl Crotonyl Carboxylase
This panel receives review by the Maine NewBorn Screen Advisory Committee and may change as new technologies and genetic research suggest.
Current fee $52.00
For description of the tests click on the following links.
Core Tests
http://www.umassmed.edu/nbs/screenings/routine/index.aspx
Expanded Tests
http://www.umassmed.edu/nbs/screenings/optional/index.aspx
The following link is to the director of the State of Maine's New Born Screening Program.
http://www.maine.gov/dhhs/boh/cshn/bloodspot_screening/index.html
