States Massachusetts
Conditions Screened
Massachusetts currently screens for 66 conditions
The Massachusetts Program
Each state runs its program differently, for more detailed information please visit their website here.
Download Brochure
Here is a brochure for the state of Massachusetts. Brochure »
What Conditions are Screened For in Massachusetts?
Amino Acid Disorders
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Argininemia (ARG)
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Benign Hyperphenylalaninemia (H-PHE)
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Biopterin Defect in Cofactor Biosynthesis (BIOPT-BS)
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Biopterin Defect in Cofactor Regeneration (BIOPT-REG)
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Citrullinemia, Type I (CIT)
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Citrullinemia, Type II (CIT II)
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Classic Phenylketonuria (PKU)
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Homocystinuria (HCY)
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Hypermethioninemia (MET)
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Hyperornithine with Gyrate Deficiency (Hyper ORN)
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Maple Syrup Urine Disease (MSUD)
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Tyrosinemia, Type I (TYR I)
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Tyrosinemia, Type II (TYR II)
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Tyrosinemia, Type III (TYR III)
Endocrine Disorders
Fatty Acid Oxidation Disorders
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2,4 Dienoyl-CoA Reductase Deficiency (DE RED)
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Carnitine Uptake Defect (CUD)
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Glutaric Acidemia, Type II (GA-2)
Hemoglobin Disorders
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Hemoglobinopathies (Var Hb)
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S, Beta-Thalassemia (Hb S/ßTh)
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S, C Disease (Hb S/C)
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Sickle Cell Anemia (Hb SS)
Lysosomal Storage Disorders
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Mucopolysaccharidosis Type-I (MPS I)
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Pompe (POMPE)
Organic Acid Conditions
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2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA)
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2-Methylbutyrylglycinuria (2MBG)
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3-Methylglutaconic Aciduria (3MGA)
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Glutaric Acidemia, Type I (GA-1)
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Isobutyrylglycinuria (IBG)
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Isovaleric Acidemia (IVA)
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Malonic Acidemia (MAL)
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Methylmalonic Acidemia with Homocystinuria (Cbl C, D, F)
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Propionic Acidemia (PROP)
Other Disorders
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Adrenoleukodystrophy (ALD)
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Biotinidase Deficiency (BIOT)
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Classic Galactosemia (GALT)
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Congenital Toxoplasmosis (TOXO)
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Cystic Fibrosis (CF)
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Formiminoglutamic Acidemia (FIGLU)
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Galactoepimerase Deficiency (GALE)
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Galactokinase Deficiency (GALK)
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Hearing loss (HEAR)
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Spinal Muscular Atrophy (SMA)
Search Educational Resources
Looking for resources? Check out our Newborn Screening Education and Training Resource Center.
About Newborn Screening in Massachusetts
Program Overview:
Newborn Screening helps to prevent certain treatable conditions. Babies with certain conditions need treatment in early infancy to prevent severe ill health. Newborn screening helps to find the babies who have these conditions. Most likely, your baby does not have one of these conditions, however if they do, it is best if they are detected early so life-saving treatment can begin.
Newborn screening works by testing all babies who are born in Massachusetts. Testing all babies is important, because most babies appear healthy at birth, even the babies who have the conditions that need treatment and that can be detected by newborn screening.
The testing for newborn screening is done on a few small drops of blood that are collected on a screening card when your baby is about two days old. If the test results from the laboratory show that your baby has signs of one of these treatable conditions, your baby’s doctor will call you to arrange care for your baby.
How is Newborn Screening Paid for in Massachusetts?
The NBS cost is $133.90 per child and is covered by most insurances.
Policies and Resources
Opt-Out:
All newborns must participate in the state newborn screening program unless a parent or guardian objects on religious grounds. The attending physician must document the refusal of screening services by a parent or guardian.
Support for families:
One of the concerns some families may have when they find out their child has a condition detected through the newborn screening program is the increase in health care costs. Fortunately, Massachusetts has many laws and programs which have been put in place to make treatment of these conditions more affordable for families who are looking to provide the best care to their loved ones.
Insurance providers are required to provide medical formulas which are approved by the commissioner of the department of public health, prescribed by a physician, and are medically necessary for treatment of phenylketonuria, tyrosinemia, homocystinuria, maple syrup urine disease, propionic acidemia, or methylmalonic acidemia in infants and children or medically necessary to protect the unborn fetuses of pregnant women with phenylketonuria.
Early intervention specialists from the state department of health provide other medically necessary services. Reimbursement of costs for such services is part of a basic benefits package offered by the insurer or a third party and does not require copayments, coinsurance or deductibles; provided, however, that copayments, coinsurance or deductibles shall be required if the applicable plan is governed by the Federal Internal Revenue Code and would lose its tax-exempt status as a result of the prohibition on copayments, coinsurance or deductibles or these services.
Storage and Use of Dried Blood Spots:
After your newborn’s blood has been screened for all of the conditions, there will remain a little bit of blood on the specimen cards. This is called a “residual dried blood spot” and it is typically stored along with a child’s information in most states for varying amounts of time.
The Newborn Blood Screening Program in Massachusetts will maintain the confidentiality of testing results and information submitted concerning follow-up of newborn testing and will not disclose such results or any information if it has patient identifiers attached. Patient identifiers are certain pieces of a newborn’s information that can be readily associated with a particular newborn. Anything with a patient identifier will not be disclosed to anyone except to that individual, anyone authorized in writing by that individual, or authorized Department personnel. Information with patient identifiers will only be released to a researcher for studies approved by the Department’s Institutional Review Board, which mandates certain privacy precautions and requirements. Additionally, all individually identifiable tests results and information shall be considered confidential and shall not be available as public record.
To see a copy of the blood spot card used in Massachusetts click here.