Newborn Screening Disorders

A-Z Listing

 

0-9 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

 

0-9

• 2,4 Dienoyl CoA Reductase Deficiency
• 3-Hydroxy-3-Methylglutaryl CoA Lyase Deficiency
• 3-Methylcrotonyl CoA Carboxylase Deficiency
• 3-Methylglutaconic Aciduria

 A

• Adrenoleukodystrophy
• ALD
• Alpha-Thalasemia
• ARG
• Argininemia

B

 

• Beta-Ketothiolase Deficiency
• BIO
• BIO (Spanish)
• Biotinidase Deficiency
• Biotinidase Deficiency (Spanish)

C

• CAH
• CAH (Spanish)
• Carnitine Palmitoyl Transferase Deficiency Type 2
• Carnitine/Acylcarnitine Translocase Deficiency
• Carbamoyl Phosphate Synthetase 1 Deficiency
• Carnitine Uptake Deficiency
• Carnitine Uptake Deficiency (Spanish)
• Carrier Identification
• CH
• CH (Spanish)
• Congenital Adrenal Hyperplasia
• Congenital Adrenal Hyperplasia (Spanish)
• Congenital Hypothyroidism
• Congenital Hypothyroidism (Spanish)
• CPS
• CUD
• CUD (Spanish)

D

• Duarte Galactosemia (DG)

E

• Ethylmalonic encephalopathy

F

G

• GA II
• Galactosemia
• Galactosemia (Spanish)
• GALT
• GALT (Spanish)
• Glutaric Acidemia, Type II
• Glycogen Storage Disease, Type II (Pompe)
• GSD

H

• Hemoglobin SC Disease
• Hemoglobin SS Disease
• Hgb S β+thal
• Hgb SC
• Hgb SS
• Hiperplasia Suprarrenal Congenita (Spanish)
• Hipotiroidismo Congenito (Spanish)
• Homocystinuria/Hypermethioninemia
• H-PHE
• Hyperphenylalaninemia

I

• Isobutyryl-CoA dehydrogenase deficiency
• Isovaleric Acidemia
  
   

J

K

L 

• Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

M

• Maple Syrup Urine Disease
• MCADD
• Medium Chain Acyl CoA Dehydrogenase Deficiency
• Methylmalonic Acidemia
• Methylmalonic Acidemia and Propionic Acidemia
• MMA
• MPS I
• Mucopolysaccharidosis type 1 (MPS I)

N

O

• OAD
• Organic Acid Disorder
• Ornithine Transcarbamylase Deficiency
• OTC

P

• Phenylketonuria/Hyperphenylalaninemia
• Phenylketonuria
• PKU
• Pompe Disease
• PPA
• Propionic Acidemia
• Pyruvate Carboxylase Deficiency

Q

R

S

• SCADD
• Severe Combined Immunodeficiency (SCID)
• Short Chain Acyl CoA Dehydrogenase Deficiency
• Sickle Cell Disease (presumed)
• Sickle Beta Plus Thalassemia (HbSβ+thal)
• Spinal Muscular Atrophy
  
   

T

• Thalassemia (Sickle Beta Plus)
• TYR
• Tyrosinemia

U

V

• Very Long Chain Acyl-CoA Dehydrogenase Deficiency
• VLCAD

W

X

• X-ALD
• X-Linked Adrenoleukodystrophy

Y

Z

• Zellweger spectrum disorder
  *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.