Download Screening Methodology

Screening Methodology
YEAR TEST
STARTED
PRIMARY ANALYTE
TESTING METHOD
CONFIRMATORY
TEST
Jan 1965
Phenylalanine
MS/MS as of Oct 2002
(Prior testing by Guthrie
Bacterial Inhibition Assay)
MS/MS
Maple syrup urine disease
(MSUD)
Jan 1968
Leucine
MS/MS as of Oct 2002
(Prior testing by Guthrie
Bacterial Inhibition Assay)
MS/MS
Homocystinuria (HCY)
Jan 1975
Methionine
MS/MS as of Oct 2002
(Prior testing by Guthrie
Bacterial Inhibition Assay)
MS/MS
DISORDER/CONDITION
Amino Acid Disorders
Phenylketonuria (PKU)
Hyperphenylalaninemia
(HyperPhe)
Hypermethioninemia (HMET)
May 2005
Tyrosinemia II, III
(TYR II, TYR III)
Nov 2004
Tyrosine
MS/MS
MS/MS
Tyrosinemia I (TYR l)
Dec 2007
Succinylacetone
MS/MS
MS/MS
Endocrine Disorders
Congenital hypothyroidism (CH)
Jan 1978
Thyroxine (T4)
Immunoassay as of
Nov 2001
(Prior testing by RIA)
Thyroid Stimulating
Hormone (TSH)
Immunoassay as of
Aug 2002
(Prior testing by RIA)
Congenital adrenal hyperplasia
(CAH)
Dec 2002
17 -Hydroxyprogesterone
(17-OHP)
Immunoassay
Immunoassay
Fatty Acid Oxidation Disorders
A characteristic pattern of acylcarnitine elevations or deficiencies are found in fatty acid oxidation disorders. The length of the
acylcarnitine is denoted by a C followed by the number of carbons. More than one acylcarnitine may be used to screen for a
disorder (i.e. C8 and C6). Acylcarnitines with one or more double bonds are denoted as C(number):(number of double bonds). If a
ratio of two acylcarnitines is used it is denoted as C(number)/C(number).
Medium-chain acyl-CoA
dehydrogenase (MCAD)
deficiency
Multiple acyl-CoA dehydrogenase
deficiency (MADD) [also known
as Glutaric acidemia type II (GAII)]
Oct 2002
C8 (Octanoylcarnitine)
C6 (Hexanoylcarnitine)
MS/MS
DNA
Nov 2004
C16/C18:1
(Hexadecanoylcarnitine/
Octadecenoylcarnitine)
MS/MS
MS/MS
Nov 2004
C0 (Free Carnitine)
SUM AC (Total
Acylcarnitines) added May
05
MS/MS
MS/MS
Medium-chain ketoacyl-CoA
thiolase (MCKAT) deficiency
Carnitine-acylcarnitine
translocase (CAT) deficiency
Carnitine palmitoyltransferase II
(CPT-II) deficiency
Carnitine uptake defect (CUD)
YEAR TEST
STARTED
PRIMARY ANALYTE
TESTING METHOD
CONFIRMATORY
TEST
Nov 2004
C16OH/C18:1OH
(Hydroxyhexadecanoylcarniti
ne/Hydroxyoctadecoylcarnitin
e)
MS/MS
MS/MS
Short-chain acyl-CoA
dehydrogenase (SCAD)
deficiency
Nov 2004
C4 (Butyrylcarnitine)
MS/MS
MS/MS
Very long-chain acyl-CoA
dehydrogenase (VLCAD)
deficiency
Nov 2004
C14/C14:1
(Tetradecanoylcarnitine/
Tetradecenoylcarnitine)
MS/MS
MS/MS
Carnitine palmitoyltransferase I
(CPT-I) deficiency
May 2005
C0/(C16 + C18) [Free
Carnitine/
(Hexadecanoylcarnitine +
Stearoylcarnitine)]
MS/MS
MS/MS
2,4 Dienoyl-CoA reductase (2,4
Di) deficiency
May 2005
C10:2 (Decadienoylcarnitine)
MS/MS
MS/MS
Medium/short-chain hydroxyacylCoA dehydrogenase (M/SCHAD)
deficiency
May 2005
C4OH/C6OH
(Hydroxybutyrylcarnitine/
Hydroxyhexanoylcarnitine)
MS/MS
MS/MS
Hemoglobin
HPLC as of Jan 2007
(Prior testing by Alkaline
Electrophoresis)
Isoelectric Focusing
as of Jan 2007
(Prior testing by Acid
Electrophoresis)
Maternal HIV-1 Antibodies
ELISA
Western Blot
DISORDER/CONDITION
Long-chain
3-hydroxyacyl-CoA
Amino Acid
Disorders
dehydrogenase (LCHAD)
deficiency
Mitochondrial trifunctional
protein (TFP) deficiency
Hemoglobin Disorders
Sickle Cell Disease (Hb SS)
Hemoglobin SC disease (Hb SC)
Apr 1975
Hemoglobin CC disease (Hb CC)
Other Hemoglobinopathies
Infectious Diseases
Blinded Feb 1987
Human Immunodeficiency-1
Infection (HIV-1)
Consented May
1996
Mandatory Feb
1997
Organic Acid Disorders
A characteristic pattern of acylcarnitine elevations is found in organic acid disorders. The length of the acylcarnitine is denoted
by C(number of carbons). More than one acylcarnitine may be used to screen for a disorder (i.e. C5OH and C6DC). Acylcarnitines
with C(number)DC indicates the presence of a dicarboxylic acid. Acylcarnitines with one or more double bonds are denoted as
C(number):(number of bonds).
Mitochondrial acetoacetyl-CoA
thiolase deficiency [betaketothiolase (BKT) deficiency]
Nov 2004
2-Methyl-3-hydroxybutyryl-CoA
dehydrogenase (MHBD)
deficiency
May 2005
Glutaric acidemia type I (GA-1)
Nov 2004
C5:1 (Tiglylcarnitine)
MS/MS
MS/MS
C5DC (Glutarylcarnitine)
MS/MS
MS/MS
DISORDER/CONDITION
YEAR TEST
STARTED
PRIMARY ANALYTE
TESTING METHOD
CONFIRMATORY
TEST
C5 (Isovalerylcarnitine)
MS/MS
MS/MS
C5OH
(Hydroxyisovalerylcarnitine)
MS/MS
MS/MS
C3 (Propionylcarnitine)
C4DC
(Methylmalonylcarnitine)
MS/MS
MS/MS
Amino Acid Disorders
Isovaleric acidemia (IVA)
Nov 2004
2-Methylbutyryl-CoA
dehydrogenase (2-MBCD)
deficiency
May 2005
3-Hydroxy-3-methylglutaryl-CoA
lyase (HMG) deficiency
Nov 2004
3-Methylcrotonyl-CoA
carboxylase (3-MCC) deficiency
May 2005
3-Methylglutaconic acidemia (3MGA)
Multiple carboxylase deficiency
(MCD)
Nov 2004
Propionic acidemia (PA)
Methylmalonyl-CoA mutase (MUT)
deficiency
Cobalamin A,B cofactor (Cbl A,B)
deficiencies
May 2005
Cobalamin C,D cofactor (Cbl C,D)
deficiencies
Other Methylmalonic acidemias
(MMA)
Isobutyryl-CoA dehydrogenase
deficiency (IBCD)
May 2005
C4 (Butyrylcarnitine)
MS/MS
MS/MS
Malonic acidemia (MA)
May 2005
C3DC (Malonylcarnitine)
MS/MS
MS/MS
Galactosemia (GALT)
Jan 1968
Galactose-1-phosphate
uridyl transferase (GALT)
Beutler-enzyme
Hill-metabolite
(Gal-1-P/galactose);
DNA added 3/05
Biotinidase deficiency (BIOT)
Jan 1987
Biotinidase
Wolf-enzyme
Wolf-enzyme
Cystic fibrosis (CF)
Oct 2002
Immunoreactive trypsinogen
(IRT)
ELISA
DNA
Krabbe disease
Aug 2006
Galactocerebrosidase
MS/MS
DNA
Severe combined
immunodeficiency (SCID)
Sept 2010
T-cell receptor excision
circles (TRECs)
Quantitative PCR
Quantitative PCR
Nov 2004
Citrulline
MS/MS
MS/MS
May 2005
Arginine
MS/MS
MS/MS
Discontinued
(tested from May
2005-Sept 2012)
Ornithine
MS/MS
MS/MS
Other Genetic Conditions
Urea Cycle Disorders
Argininosuccinic acidemia (ASA)
Citrullinemia (CIT)
Argininemia (ARG)
Hyperammonemia/
hyperornithinemia/
homocitrullinemia (HHH)