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Delaware Health and Social Services » Division of Public Health

DELAWARE NEWBORN SCREENING DISORDER LIST

TRADITIONAL DISORDERS

1.	CH	Congenital Hypothyroidism
2.	CAH	Congenital Adrenal Hyperplasia
3.	GAL	Galactosemia
4.	HGB	Hemoglobinopathies - SS Disease, SC Disease, Variant Hgb
5.	BIOT	Biotinidase Deficiency
6.	CF	Cystic Fibrosis

AMINO ACID / UREA CYCLE DISORDERS (MS/MS)

7.	PKU	Phenylketonuria
8.	HPHE	Hyperphenylalinemia
9.	MSUD	Maple Syrup Urine Disease
10.	HCYS	Homocystinuria
11.	HMET	Hypermethioninemia
12.	TYR	Tryosinemia, type I
13.	TYR	Tryosinemia, type II
14.	TYR	Tryosinemia, type III
15.	ARG	Argininemia
16.	ASL	Argininosuccinate Lyase Deficiency
17.	CIT	Argininosuccinate Synthetase Deficiency (Citrullinemia)

ORGANIC ACID DISORDERS (MS/MS)

18.	GA-1	Glutaric Aciduria, Type I
19.	PA	Proprionic Acidemia
20.	MMA	Methylmalonic Acidemia
21.	MCD	Multiple Carboxylase Deficiency
22.	IVA	Isovaleric Acidemia
23.	2-MBCD	2-Methylbutyryl-CoA Dehydrogenase Deficiency
24.	3-MCC	3-Methylcrotonyl-CoA Carboxylase Deficiency
25.	HMG	3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
26.	BKT	Mitochondrial Acetoacetyl-CoA Thiolase Deficiency
27.	IBCD	Isobutyryl-CoA Dehydrogenase Deficiency

FATTY ACID OXIDATION DISORDERS (MS/MS)

28.	MCAD	Medium chain Acyl-CoA Dehydrogenase Deficiency
29.	CPT II	Carnitine Palmitoyltransferase II Deficiency
30.	CAT	Carnitine/Acylcarnitine Translocase Deficiency
31.	GA II	Glutaric Aciduria, Type II
32.	MADD	Multiple Acyl-CoA Dehydrogenase Deficiency
33.	SCAD	Short-chain Acyl-CoA Dehydrogenase Deficiency
34.	LCHAD	Long-chain Hydroxyacyl-CoA Dehydrogenase Def.
35.	TFP	Trifunctional Protein Deficiency
36.	VLCAD	Very long-chain Acyl-CoA Dehydrogenase Deficiency
37.	CUD	Carnitine Uptake Deficiency

OTHER

38.

NH

Newborn Hearing Screening

Last Updated: Friday January 16 2009

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