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University of Chicago Genetic Services Laboratories
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3 A B C D E F G H I J K L M N O P R S T U W X
Tests > by Disorder > T

Targeted analysis

Targeted Analysis
Targeted Deletion/Duplication Analysis (MLPA or qPCR)

Temple-Baraitser syndrome

Temple-Baraitser Syndrome Testing (KCNH1)

Thiamine-responsive megaloblastic anaemia syndrome

Thiamine Responsive Megaloblastic Anemia (TRMA) Testing (SLC19A2)

Thrombocytopenia

Thrombocytopenia Panel

Thyroid cancer

Hereditary Thyroid Cancer Panel

Thyroid Disorders

Hyperparathyroidism Panel
Hypoparathyroidism Panel
Hypothyroidism Panel
Tier 1: Thyroid Testing Only (Allan-Herndon-Dudley syndrome)
Tier 2: SLC16A2 (MCT8) Mutation Analysis (Allan-Herndon-Dudley syndrome)

Thyroid dysgenesis

Hypothyroidism Panel

Thyroid dyshormonogenesis

Hypothyroidism Panel

Thyroid hormone receptor defects

Hypothyroidism Panel

Transient neonatal diabetes

6q24 Methylation-Specific MLPA
Comprehensive Neonatal Diabetes Mutation Analysis
UPD6 testing

Treacher Collins syndrome

Facial Dysostosis Panel

Type A Insulin Resistant Diabetes with Acanthosis Nigricans

Type A Insulin Resistant Diabetes with Acanthosis Nigricans Testing (INSR)
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Department of Human Genetics