CT NBS Panel

Type of Disorder
Amino Acid Disorders
Argininemia ARG
  Argininosuccinic Aciduria  ASA
  Benign Hyperphenylalaninemia
  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
  Homocystinuria  HCY
  Homocystinuria due to MTHFR 
  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
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
Hb β°-Thal

S, βeta-thalassemia (Sickle Beta Thalassemia)

  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
  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.

Connecticut Newborn Diagnosis and Treatment Network