Frequently Asked Questions
A: There are several ways to get connected! A new tool is available called MyGene2, for more information visit our resource page for MyGene2. You can also create a SWAN profile on the My Swan Page and then search for other families in our SWAN Community. Be sure and check out our social media groups: Facebook, join our Yahoo group, or follow us on Twitter. You are not alone!
A: Today families dealing with undiagnosed conditions have more resources available than ever before:
Access up-to-date information in our powerful SWAN Diagnosis database.
Orphanet - allows you to search rare diseases by signs.
Omim - is a comprehensive online catalog of human genes and genetic disorders.
Unique - provides an online database that offers current information on chromosomes and rare chromosome disorders.
Genetic home reference - information about Genetic conditions, Genes, Chromosomes, and Mitochodrial DNA.
A: Also known as whole exome sequencing, targeted exome capture or next gen sequencing, exome sequencing looks at the protein coding regions of the human genome known as exons. There are about 180,000 exons in the human genome and it is estimated that 85% of the disease-causing mutations can be found in these regions.
A: While whole exome sequencing looks at the exon regions of the genome, whole genome sequencing looks at both the exons and introns covering the entire genome. Only about 15% of disease-causing mutations can be found in the introns.
A: Mitochondrial diseases can be caused by mutations in either the mitochondrial genome (a small circular chromosome found within the mitochondria) or by mutations in the nuclear genome (on the chromosomes found in the nucleus). Whole exome sequencing is typically done in such a way that only the exons in the nuclear genome are captured and sequenced, and thus, will only identify some of the mutations associated with mitochondrial disease.
A: Clinical Labs offering genetic testing:
Research programs offering genetic testing: