Frequently Asked Questions
The Connecticut Newborn Screening Program
CT NBS Panel
| Type of Disorder |
Disorder |
Abbreviation |
|---|---|---|
| Amino Acid Disorders |
Argininemia | ARG |
| Argininosuccinic Aciduria | ASA | |
| Benign Hyperphenylalaninemia |
PHE | |
| Biopterin Defect in Cofactor Biosynthesis | BIOPT (BS) | |
| Biopterin Defect in Cofactor Regeneration | BIOPT (Reg) | |
| Carbamoyl Phosphate Synthetase I Deficiency | CPS | |
| Citrullinemia Type I | CIT I |
|
| Citrullinemia Type II |
CIT II |
|
| Homocystinuria | HCY |
|
| Homocystinuria due to MTHFR |
RMD | |
| Hypermethionemia | MET |
|
| Maple Syrup Urine Disease | MSUD | |
| Ornithine Transcarbamylase Deficiency | OTC |
|
| Phenylketonuria (Classic) | PKU | |
| Pyruvate Carboxylase Deficiency | PC |
|
| Tyrosinemia Type I | TYR I |
|
| Tyrosinemia Type II | TYR II |
|
| Tyrosinemia Type III |
TYR III |
|
| Galactose Metabolism Disorders | Galactoepimerase Deficiency | GALE |
| Galactokinase Deficiency | GALK | |
| Galactosemia (Classical) | GALT | |
| Endocrine Disorders |
Congenital Adrenal Hyperplasia | CAH |
| Congenital Hypothyroidism | CH | |
| Fatty Acid Oxidation Disorders |
2,4 Dienoyl CoA Reductase Deficiency | DE RED |
| Carnitine Palmitoyl Transferase Deficiency Type 1 | CPT I |
|
| Carnitine Palmitoyl Transferase Deficiency Type 2 | CPT II |
|
| Carnitine Uptake Defect | CUD | |
| Carnitine/Acylcarnitine Translocase Deficiency | CACT | |
| Glutaric Acidemia Type 2 | GA 2 | |
| Isobutyryl-CoA dehydrogenase deficiency | IBG | |
| Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency | LCHAD | |
| Medium Chain Acyl-CoA Dehydrogenase Deficiency | MCAD | |
| Medium/Short Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency | M/SCHAD | |
| Short Chain Acyl-CoA Dehydrogenase Deficiency | SCAD | |
| Trifunctional Protein Deficiency | TFP | |
| Very Long Chain Acyl-CoA Dehydrogenase Deficiency | VLCAD | |
| Hemoglobin Disorders |
Alpha-Thalassemia (Hb Bart's syndrome and Hemoglobin H disease) | Hb Bart's, HbH |
| Hemoglobinopathies (Various other) | Hb Var |
|
| βeta-Thalassemia |
Hb β°-Thal |
|
| S, βeta-thalassemia (Sickle Beta Thalassemia) |
Sβ°-Thal |
|
| S,C Disease | Hb SC |
|
| S,S Disease (Sickle Cell Disease) | Hb SS | |
| C,C Disease | Hb CC | |
| S,D Disease | Hb SD | |
| D,D Disease | Hb DD | |
| S,E Disease | Hb SE | |
| E,E Disease | Hb EE | |
|
Hemoglobin Traits |
Hemoglobin C Trait (Carrier) | Hb FAC |
| Hemoglobin D Trait (Carrier) | Hb FAD |
|
| Hemoglobin E Trait (Carrier) | Hb FAE |
|
| Hemoglobin S Trait (Carrier) | Hb FAS |
|
| Hemoglobin Other Trait (Carrier) | Hb FA Other | |
| Immune Disorders |
Severe Combined Immunodeficiency | SCID |
| Adenosine Deaminase Deficiency SCID | ADA SCID |
|
| T-cell related lymphocyte deficiencies | T-cell Lymphopenias |
|
| Lysosomal Storage Disorders | Pompe | Pompe |
| Mucopolysaccharidosis Type-I | MPS-I | |
| Organic Acid Disorders | 2-Methyl 3 Hydroxy Butyric Aciduria | 2M3HBA |
| 2-Methyl Butyryl-CoA Dehydrogenase Deficiency |
2MBG | |
| 3-Hydroxy-3-Methylglutaryl CoA Lyase Deficiency | HMG | |
| 3-Methylcrotonyl CoA Carboxylase Deficiency | 3MCC | |
| 3-Methylglutaconic Aciduria | 3MGA | |
| Beta-Ketothiolase Deficiency | BKT | |
| Ethylmalonic Encephalopathy | EME | |
| Glutaric Acidemia Type 1 | GA I |
|
| Isovaleric Acidemia | IVA | |
| Malonic Aciduria | MAL | |
| Methylmalonic Acidemia | MMA | |
| Methylmalonic Acidemia caused by cobalamin A or cobalamin B deficiencies |
Cbl A, B |
|
| Methylmalonic Acidemia with Homocystinuria (Cbl C, D) | Cbl C, D |
|
| Cobalamin Disorders (other) | Cbl other |
|
| Multiple CoA Carboxylase Deficiency | MCD | |
| Propionic Acidemia | PPA | |
| Other Disorders | Biotinidase Deficiency | BIO |
| Critical Congenital Heart Disease (conducted by birth hospital) | CCHD | |
| Cystic Fibrosis (conducted by UConn and Yale CF labs) | CF | |
| Hearing Loss (conducted by birth hospital) | Hearing | |
|
Peroxisomal Disorders |
X-Linked Adrenoleukodystrophy | ALD |
| Zellweger spectrum disorders | ZSD | |
| Neuromuscular Disorders | Spinal Muscular Atrophy | SMA |
*Note: Disorders listed may not be the primary Newborn Screening disorder targets but may be detectable using the same testing methods. There may be other disorders identified through Newborn Screening that may not be listed.