Cardiology 1

Cardiology

Cardiomyopathy is a group of conditions that make it difficult for the heart to pump blood to the rest of the body due to weakness in the heart muscles.

Cardiomyopathy

Cardiomyopathy gene panel Overview

Overview
Indication
Application

Cardiomyopathy is a group of conditions that make it difficult for the heart to pump blood to the rest of the body due to weakness in the heart muscles.
These diseases affect individuals of all ages and can lead to heart failure and sudden cardiac death. If there is a family history of cardiomyopathy in the family then it is strongly recommended to get genetic testing in order to be aware of the familial risk, personal risk and treatment options.
Most types of cardiomyopathy are inherited in a dominant manner, which means that one copy with a gene change is enough for the disease to present in an individual.
The symptoms of cardiomyopathy are variable, and these diseases can present in different ways.
The most common type of inherited cardiomyopathy is hypertrophic cardiomyopathy

Some symptoms may include:

Shortness of breath
Fatigue
Arrythmia (abnormal heart rhythm)
Dizziness
Chest pain

Associated Diseases:

Cardiomyopathy
Hypertrophic cardiomyopathy
Dilated cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Left ventricular noncompaction cardiomyopathy

Cardiac channelopathies are a group of inherited conditions that are associated with problems in the cardiac ion channel function.
These problems cause an increased susceptibility to abnormal heart rhythm (dysrhythmia) and sudden death. This occurs due to the malfunction or change in the electrical function of the channels of the heart.

Some individuals may never show symptoms. Some symptoms may include:

Sudden cardiac death in the family
Ventricular tachycardia
Ventricular fibrillation
Family history
Abnormal scans

Associated Diseases

Long QT syndrome
Brugada syndrome
short OT syndrome
J-wave syndrome
Catecholaminergic polymorphic ventricular tachycaria (CPVT)

Sample Requirements

For genetic testing through next generation sequencing, the following sample types are accepted. A thorough labelling of the tube with unique identifying information is suggested, incorrect labelling can lead to rejection of the sample.
The minimum required information to identify and accept a sample is – Patient’s full name, Date of birth, Gender and Medical Record Number.

Maternal blood sample must be sent with all products of conception, CVS and Amnio samples.
Precedence will be given to all prenatal samples.

The ‘informed consent’ form and the ‘test requisition from’ (included within the provided kit) must be properly filled-in and signed by the patient and sent with the samples inside the shipping box or by e-mail to the laboratory. Igenomix will send you all the documents needed for the pick-up and transportation of the appropriate kit to our laboratory

Cardiology Panel Methodology

Cardiology panel Limitations

The probes used for this test are designed to detect known genes in the curated panel. Therefore, this test is unable to detect genes not defined by the NCBI reference genome GRCh37 or non-human genome sequences including viral sequences or non-nuclear DNA that are designated in the specific panel.
In addition, due to the limitations of NGS technologies, the following variants cannot be readily detected: large deletions/duplications greater than 40 base pairs, copy number variations, homopolymer stretches, variants in pseudogene regions, gene fusions, balanced translocations, inversions, ploidy changes, uniparental disomy, and repeat expansion regions.
Furthermore, variants present outside the exons (non-coding region) could be missed; these variants can affect gene activity and protein production which may lead to genetic disorders. This technique does not cover the entire exome, (the % of bases with coverage above 20x is approximately 97%). It may not be possible to resolve certain details about variants such as mosaicism, phasing, or mapping ambiguity.
Analytical limitations may also occur due to the provided clinician information. Accurate and thorough clinical information of the patient(s) and family members is required as incomplete information may lead to false positive or negative results
This list of indications and symptoms is not necessarily a comprehensive list and only covers common symptoms associated with disease, signs and symptoms should be discussed with your physician. If you feel like you are affected by one or more of these syndromes visit a doctor immediately. The information presented in this site is not meant to diagnose any medical or genetic condition rather give an overview of the panels presented and offer guidance as to which panel is most appropriate. The associated diseases listed are not necessarily a comprehensive list – more diseases may be added to this list as new information about the disease and the genes associated with these diseases and panels arises