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Tests > by Disorder > T

Targeted analysis

Custom mutation analysis (for known sequence change in first family member)
Targeted Mutation Analysis (Known Familial Mutation)
Testing for a known mutation in additional family member by deletion/duplication analysis (MLPA or array-CGH)

Telomere Biology Disorders

Telomere Biology Disorder / Dyskeratosis Congenita Deletion/Duplication Panel

Temple-Baraitser syndrome

KCNH1 sequencing

Thiamine-responsive megaloblastic anaemia syndrome

SLC19A2 deletion/duplication analysis
SLC19A2 sequencing

Thrombocytopenia

Comprehensive Thrombocytopenia Panel
Thrombocytopenia Deletion/Duplication Panel
Thrombocytopenia Sequencing Panel

Thyroid cancer

Hereditary Thyroid Cancer Panel

Thyroid dysgenesis

Congenital Hypothyroidism Deletion/Duplication Panel
Congenital Hypothyroidism Sequencing Panel

Thyroid dyshormonogenesis

Congenital Hypothyroidism Deletion/Duplication Panel
Congenital Hypothyroidism Sequencing Panel

Thyroid hormone receptor defects

Congenital Hypothyroidism Deletion/Duplication Panel
Congenital Hypothyroidism Sequencing Panel

Townes-Brocks syndrome

Renal Cystic Disorders Sequencing Panel

Transient neonatal diabetes

6q24 Methylation-Specific MLPA for transient neonatal diabetes
Comprehensive Neonatal Diabetes Mutation Analysis
UPD6 testing

Treacher Collins syndrome

Facial Dysostosis Deletion/Duplication Panel
Facial Dysostosis Sequencing Panel

Tuberous sclerosis

Renal Cystic Disorders Sequencing Panel

Type A Insulin Resistant Diabetes with Acanthosis Nigricans

INSR deletion/duplication analysis
INSR sequencing