ESPAŅOL
Fetal Testing
Disorders Detectable by Tandem Mass Spectrometry (MS/MS)

8500 Wilshire Blvd.
Suite 910
Beverly Hills,
CA 90211


toll free:
(800) 498 4352


DISORDERS DETECTABLE BY
TANDEM MASS SEPECTROMETRY


Clear Benefit
from Early  Detection

Primary Disorders

Amino Acid Disorders

Argininocuccinyl-CO A lysase deficiency (ASAL deficiency
Homocystinuria/ cystathionine beta-synthase deficiency (CBS deficiency)

Organic Acid Disorders

Methylmelonic acidemia (Cbl A, B)
Multiple Carboxylase deficiency (MCD)

Fatty Acid Oxidation Disorders

Carnitine transporter deficiency
Carnitine palmitoyl transfer deficiency-type 1 (CPT-1 deficiency)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD deficiency)
Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency)

Secondary Disorders

Homocitrulinuria hyperomithinenia, hyperammonemia -HHH
Hyperornithinemia with gyrate atrophy of the cornea and retina
Tyrosenemia Type I (TYR-1)

MANDATORY SCREENING

Primary Disorder

Amino Acid Disorder

Biopterin Disorders (4)
Hyperphenylalaninemia -Classical Phenylketonuria (PKU)
Hyperphenylalaninemia -Variant  PKU


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