Disorders

Timothy Syndrome

Synonym(s): Long QT Syndrome 8, Long QT Syndrome with Syndactyly, LQT8

Gene	Locus	Protein
CACNA1C	12p13.3	Voltage-dependent L-type calcium channel subunit alpha-1C

Laboratory	Test Method	Prenatal	Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands	• Targeted mutation analysis
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA	• Sequence analysis of select exons
Centogene AG, Rare Disease Company - Rostock, Germany
GeneDx - Gaithersburg, MD, USA
InVitae Corporation - San Francisco, CA, USA
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand	• Sequence analysis of select exons • Targeted mutation analysis
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands	• Sequence analysis of select exons
Transgenomic - New Haven, CT, USA	• Sequence analysis of select exons
University Hospital Münster, Institute for Genetics of Heart Diseases (IfGH) - Münster, Germany

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.