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Institute of Metabolic Disease
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List of Clinical Tests and Requisition Forms (PDF)
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Institute of Metabolic Disease at Baylor Research Institute
Clinical Tests

The IMD provides the following clinical tests. Information on each test is available by clicking the name below of interest.
Acylcarnitine Profile

Acylglycines in urine
Alpha-1-antitrypsin deficiency (AATD) Mutation detection

Amino Acids

Carnitine Palmitoyltransferase (CPTII) DNA Analysis (S113L)

CPTII-DNA Analysis -Panel of 8 mutations

CPTII- Unknown Mutation Detection by DNA Sequencing

Carnitine Palmitoyltransferase (CPTII) Enzyme Assay

Carnitine Levels

Diabetes Type I DNA Analysis by INS Gene Sequencing
DNA Analysis for Familial Hypertrophic Cardiomyopathy/Wolff-Parkinson-White syndrome by PRKAG2 Gene Sequencing

EIF2B -Related Disorder - Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter Disease (CACH/VWM) – Mutation Analysis

Fabry Disease DNA Analysis for Individual Known Mutations

Fabry Disease Mutation Analysis by GLA Gene Sequencing

Fabry Disease Screening (Gb3 Isoforms Analysis)

5-Methyltetrahydrofolate (MTHF)

Free Sialic Storage Disorder (SASD) DNA Analysis for Individual Known Mutations

Free Sialic Acid Storage Disorder (SASD) Mutation Analysis by SLC17A5 Gene Sequencing

Glutaric Acid

Homocysteine -total

Lactate in CSF

LCHAD (C1528) DNA Analysis

MCAD DNA Analysis (A985G)     

MCAD DNA Analysis -Panel of 8 mutations

MCAD- Unknown Mutation Detection by DNA Sequencing
Methylmalonic Acid

Mitochondrial Beta Oxidation Defects

Monoamine Neurotransmitter Metabolites (HVA, 3-OMD and 5-HIAA)

N-Acetylasparatic

Neopterin

Orotic Acid

Salla DNA Analysis - Common Mutation 115C>T(R39C)

Succinylacetone

Supplemental Newborn Screening

Tetrahydrobiopterin (BH4) & Neopterin (N) profile

Urine Organic Acids