The Molecular Genetics Program at the Masonic Medical Research Laboratory has assembled a team of investigators capable of streamlining the approach to genetic screening and subsequent functional in vitro analysis of ion channel mutations linked to inherited cardiac arrhythmia and conduction disease. We are certified as a CLIA/CLEP-approved clinical laboratory by the New York State Department of Health.

Next Generation Sequencing

We invite your participation and collaboration in these projects. We are particularly interested in individuals, or preferably, large families with any of the following:

  • Brugada Syndrome ( Spontaneous Brugada ECG phenotype )
    Brugada phenotype unmasked or induced by sodium channel blockers, hormonal imbalances pheochromocytoma,antidepressant or other drugs, hyponatremia or other electrolyte imbalances, alcohol, vagotonic agents or vagal, maneuvers (including full stomach).
  • Early Repolarization Syndrome
  • Familial Atrial Fibrillation
  • Catecholamine-sensitive
  • VT Non-ischemia-related VT/VF occurring in young individuals
  • Post-MI QT prolongation and Torsade de Pointes
  • Progressive Conduction DiseaseSudden death in infants and children (including SIDS)
  • Acquired Long QT Syndrome (Congenital LQTS cases should be referred to Familion, GeneDx  or other commercial testing facilities)
  • Short QT Syndrome

Please do not hesitate to contact us regarding these or other familial arrhythmic syndromes. Should a new mutation or gene be uncovered as a result of genetic screen of the DNA samples provided, the submitting physician will be included as a co-author.

Blood Collection and Delivery: Instruction for collection and delivery of blood can be found at Blood Collection and Delivery Instructions.

Informed Consent Forms: We will require you to obtain informed consent from each patient selected for participation in the study. Informed consent forms can be found at Informed Consent Forms .Patient must sign both in order for us to proceed with both Clinical Diagnosis and Research Protocols.

Clinical History and ECGs: You will also be required to fill out a clinical history form, which can be found at Clinical History Form and provide us with ECGs supporting the diagnosis.

An authorization number for submission of blood/DNA will be issued once the clinical data are reviewed. Blood/DNA will not be accepted for processing without an authorization number.

 

Contact Information: Please address all inquiries to genetics@mmrl.edu or Tel : 315-624-7488