Newborn Screening Materials and Resources: Disorder Fact Sheets - Minnesota Dept. of Health

Newborn Screening Materials and Resources:
Screening Panel and Disorder-Specific Information

Newborn Screening PanelOn this page:
Minnesota's Newborn Screening Panel

Disorder-Specific Information

 

Minnesota's Newborn Screening Panel

The newborn screening panel refers to the list of disorders that newborns are screened for shortly after birth. In Minnesota, disorders are added to this panel by the Commissioner of Health with advice and recommendations from Minnesota's Advisory Committee on Heritable and Congenital Disorders.

Screening panels may vary from state to state. The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) provides national recommendations on which disorders should be screened for in all states to the Secretary of Health and Human Services. However, each state ultimately determines which disorders to include in its panel.

2017 Newborn Screening Disorder Panel (PDF)


Disorder-Specific Information

The following fact sheets are designed to provide additional disorder-specific information to both families and providers following an abnormal newborn screening result. It is important to keep in mind that an abnormal result means more testing is needed to know for sure whether the baby is affected by a disorder.

Medical fact sheets offer health care providers recommended short-term actions following an abnormal result, as well as some basic information about the disorder.

*We are in the process of updating the fact sheets, their appearance may be different.

Amino Acid Disorders

Disorder Abbr. Family Fact Sheets Medical Fact Sheets
Argininosuccinic Acidemia ASA ASA family fact sheet
(PDF)
ASA medical fact sheet (PDF)
Citrullinemia CIT CIT family fact sheet
(PDF)
CIT medical fact sheet (PDF)
Maple Syrup Urine Disease
(branched-chain ketoaciduria)
MSUD MSUD (branched-chain ketoaciduria) family fact sheet (PDF) MSUD (branched-chain ketoaciduria) medical fact sheet (PDF)
Phenylketonuria PKU PKU family fact sheet
(PDF)
PKU medical fact sheet (PDF)

 

Endocrine Disorders

Disorder Abbr. Family Fact Sheets Medical Fact Sheets
Congenital Adrenal Hyperplasia CAH CAH family fact sheet (PDF) CAH medical fact sheet (PDF)
Congenital Hypothyroidism   Congenital Hypothyroidism family fact sheet (PDF) Congenital Hypothyroidism medical fact sheet (PDF)
Borderline Congenital Hypothyroidism Results   Borderline Congenital Hypothyroidism Results family fact sheet (PDF) Borderline Congenital Hypothyroidism Results medical fact sheet (PDF)

 

Fatty Acid Oxidation Disorders

Disorder Abbr. Family Fact Sheets Medical Fact Sheets
Carnitine Uptake/Transport Deficiency CUD/CTD CUD/CTD family fact sheet (PDF) CUD/CTD medical fact sheet (PDF)
Long-chain 3-hydroxy acyl-CoA dehydrogenase deficiency LCHAD LCHAD family fact sheet (PDF) LCHAD medical fact sheet (PDF)
Medium-chain acyl-CoA dehydrogenase deficiency MCAD MCAD family fact sheet (PDF) MCAD medical fact sheet (PDF)
Short-chain acyl-CoA
dehydrogenase deficiency
SCAD SCAD family fact sheet (PDF) SCAD medical fact sheet (PDF)
Very long-chain acyl-CoA dehydrogenase deficiency VLCAD VLCAD family fact sheet (PDF) VLCAD medical fact sheet (PDF)

 

Hemoglobinopathy Disorders

Disorder Abbr. Family Fact Sheets Medical Fact Sheets
Hemoglobin and sickle cell trait   Hemoglobin and Sickle Cell Trait family fact sheets  
Hemoglobin C disease FC Hemoglobin C disease family fact sheet (PDF) Hemoglobin C disease provider fact sheet (PDF)
Hemoglobin E disease FE Hemoglobin E disease family fact sheet (PDF) Hemoglobin E disease provider fact sheet (PDF)
Hemoglobin SC disease FSC Hemoglobin SC disease family fact sheet (PDF) Hemoglobin SC disease provider fact sheet (PDF)
Sickle cell disease FS Sickle cell disease family fact sheet (PDF) Sickle cell disease provider fact sheet (PDF)
Sickle Cell Disease Emergency Guidelines     Sickle Cell Disease Emergency Guidelines (PDF)

 

Lysosomal Disorders

Disorder Abbr. Family Fact Sheets Medical Fact Sheets
Mucopolysaccharidosis type I MPS I MPS I family fact sheet (PDF) MPS I provider fact sheet (PDF)
Pompe disease   Pompe family fact sheet (PDF) Pompe provider fact sheet (PDF)

 

Organic Acid Disorders

Disorder Abbr. Family Fact Sheets Medical Fact Sheets
2-methylbutyryl-CoA dehydrogenase deficiency SBCAD SBCAD family fact sheet (PDF) SBCAD medical fact sheet (PDF)
3-methylcrotonyl-CoA carboxylase deficiency 3-MCC 3-MCC family fact sheet (PDF) 3-MCC medical fact sheet (PDF)
Glutaric Acidemia, type 1 GA1 GA1 family fact sheet (PDF) GA1 medical fact sheet (PDF)
Isovaleric Acidemia IVA IVA family fact sheet (PDF) IVA medical fact sheet (PDF)
Methylmalonic Acidemia MMA MMA family fact sheet (PDF) MMA medical fact sheet (PDF)

 

Other Disorders

Disorder Abbr. Family Fact Sheets Medical Fact Sheets
Biotinidase Deficiency   Biotinidase Deficiency family fact sheet (PDF) Biotinidase Deficiency medical fact sheet (PDF)
Borderline Biotinidase Deficiency     Biotinidase Deficiency medical fact sheet (PDF)
Critical Congenital Heart Disease CCHD   Provider Fact Sheet: Did Not Pass Pulse Oximetry Screen (PDF)
Cystic Fibrosis - 1 Mutation CF CF 1M family fact sheet (PDF) CF 1M medical fact sheet (PDF)
Cystic Fibrosis - High IRT 1 Mutation CF CF IRT1M family fact sheet (PDF) CF IRT1M medical fact sheet (PDF)
Cystic Fibrosis - 2 Mutations CF CF 2M family fact sheet (PDF) CF 2M medical fact sheet (PDF)
Borderline Cystic Fibrosis - High IRT Zero Mutations CF CF IRT family fact sheet (PDF) CF IRT medical fact sheet (PDF)
Galactosemia - Absent/Reduced GALT   Galactosemia (GALT) family fact sheet (PDF) Galactosemia (GALT) medical fact sheet (PDF)
Galactosemia - Elevated TGAL with normal GALT   Galactosemia (TGAL) family fact sheet (PDF) Galactosemia (TGAL) medical fact sheet (PDF)
Hearing Loss   Hearing loss family fact sheet (PDF) Hearing Loss medical fact sheet (PDF)
Severe Combined Immunodeficiency/Primary T-cell Lymphopenia SCID SCID family fact sheet (PDF) SCID medical fact sheet (PDF)
X-linked Adrenoleukodystrophy X-ALD X-ALD family fact sheet (PDF) X-ALD medical fact sheet (PDF)