Comprehensive Cardiac Arrhythmia/Cardiomyopathy Panel

Posted on by Melanie Pepin

Exome Panel on Demand (Comprehensive Cardiac Arrhythmia/Cardiomyopathy Panel) Test Link

The Comprehensive Cardiac Arrhythmia/Cardiomyopathy Panel includes genes that have been identified to be responsible for disorders in which arrhythmia and/or cardiomyopathy are a noted feature.  Cardiac Arrhythmia disease phenotypes include Brugada syndrome, Familial atrial fibrillation, long QT, and arrhythmogenic right ventricular dysplasia among others.  Cardiomyopathy disease phenotypes include primary myopathies, muscular dystrophies; metabolic storage diseases, Noonan syndrome and cardiofaciocutaneous syndromes among others.  The Comprehensive Cardiac Arrhythmia/Cardiomyopathy exome panel is the most cost-efficient and precise approach to diagnostic testing as there is overlap between phenotypes and the lack of characteristic “other” features in many instances. Study of the panel genes from the DNA of a single individual allows us to focus on variants reported as pathogenic in the past, on those with a very low population frequency, with nucleotide conservation across species and with likely pathogenic consequence. When variants of unknown significance are identified by panel testing, DNA is requested from first degree relatives to interrogate the significance of the variant. There is no charge for added studies used to aid in interpretation of a sequence change found in the index case.

Cardiomyopathy Panel

Posted on by Melanie Pepin

Exome Panel on Demand (Cardiomyopathy Panel) Test Link

Cardiomyopathy exome panel testing includes genes that have been identified to be responsible for disorders in which cardiomyopathy is a noted feature.  The disease phenotypes include primary myopathies, muscular dystrophies; metabolic storage diseases, Noonan syndrome and cardiofaciocutaneous syndromes among others.  Cardiomyopathy exome panel testing is the most cost-efficient and precise approach to diagnostic testing as there is overlap between phenotypes and the lack of characteristic “other” features in many instances.  Study of the panel genes from the DNA of a single individual allows us to focus on variants reported as pathogenic in the past, on those with a very low population frequency, with nucleotide conservation across species and with likely pathogenic consequence. When variants of unknown significance are identified by panel testing, DNA is requested from first degree relatives to interrogate the significance of the variant. There is no charge for added studies used to aid in interpretation of a sequence change found in the index case.

 

Cardiac Arrhythmia Panel

Posted on by Melanie Pepin

Exome Panel on Demand (Cardiac Arrhythmia Panel) Test Link

Cardiac Arrhythmia exome panel testing includes genes that have been identified to be responsible for disorders in which arrhythmia is a noted feature. The disease phenotypes include Brugada syndrome, Familial atrial fibrillation, long QT, and arrhythmogenic right ventricular dysplasia among others.   Cardiac Arrhythmia exome panel testing is the most cost-efficient and precise approach to diagnostic testing as there is overlap between phenotypes and the lack of characteristic “other” features in many instances.  Study of the panel genes from the DNA of a single individual allows us to focus on variants reported as pathogenic in the past, on those with a very low population frequency, with nucleotide conservation across species and with likely pathogenic consequence. When variants of unknown significance are identified by panel testing, DNA is requested from first degree relatives to interrogate the significance of the variant. There is no charge for added studies used to aid in interpretation of a sequence change found in the index case.

 

Testing for Known Pathogenic Variant

Posted on by Melanie Pepin

Known pathogenic variant testing should be selected if such a variant was previously identified in the family by the laboratory (we tested a relative of the patient) and we have a positive control for that patient.

Panel on Demand

Posted on by Stephen Schildbach

Exome Panel on Demand Test Link

For the patient with a rare phenotype, when the constellation of clinical findings is not recognized as part of a known syndrome, yet the clinician investigator would like to investigate a particular set of genes that are known to contribute to a particular phenotype, “panel on demand” sequencing is a cost-efficient and precise approach to diagnostic testing for rare inherited disease. Examples of panels might include a neurodevelopmental gene panel, hereditary cancer panel, cardiomyopathy gene panel or others. Study of the custom panel of genes from the DNA of a single individual is used to identify sequence variants with a very low population frequency, with nucleotide conservation across species and likely pathogenic consequence. Testing of a family trio facilitates filtering of sequence variants and reduces the number of potential candidates by looking for the same sequence alteration in an unaffected parent(s).

There are several options for Panel on Demand based on the number of genes in the Panel:

  • Hyper Panel on Demand (201-500 genes)
  • Super Panel on Demand (101-200 genes)
  • Mega Panel on Demand (11-100 genes)
  • Micro Panel on Demand (2-10 genes)
  • Single Gene Sequencing

Use the web tool at https://pod-generator.dlmp.uw.edu/ to add genes to create a custom panel, or to select a single gene for testing.

Exome Sequencing

Posted on by Stephen Schildbach

UW Medicine online test guide: Exome Sequencing

EXOME SEQUENCING of a single individual: For the PROBAND with a rare phenotype, when the constellation of clinical findings is not recognized as part of a known syndrome, exome sequencing is the most cost-efficient and precise approach to diagnostic testing for rare inherited disease. Study of the exome from the DNA of a single individual is used to identify sequence variants with a very low population frequency, with nucleotide conservation across species and likely pathogenic consequence.

EXOME SEQUENCING TRIO: TRIO Exome sequencing is sequencing the entire exome of a proband and his/her parents. (as exome comparators) TRIO testing allows filtering of rare sequence variants and reduces the number of potential candidates by looking for the same sequence alteration in unaffected parent(s). The proband and parents may request reporting of rare sequence variants of medically actionable genes.*

EXOME SEQUENCING COMPARATOR: Comparator exome sequence is an adjunct to exome sequencing of the proband; usually the parents are comparators. Although individual rare variants are not reported for the comparator exome, using it only for comparison with the proband, the parent may request reporting of rare variants of genes known to be associated with adult disease for which medical action could alter outcome.*

*The American College of Medical Genetics and Genomics (ACMG) recommends that clinical sequencing laboratories return secondary findings in 59 genes associated with medically actionable conditions (Kalia, SS et al Genetics in Medicine Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics (17 Nov 2016)