This report reflects the In addition, Please be advised that we only accept specimen collection kit requests from medical professionals. Skeletal problems such as scoliosis and pectus excavatum may require surgery.

It is an autosomal dominant condition occurring once in every 10,000 to 20,000 individuals. The diagnostic yield varies depending on the assay used, referring healthcare professional, hospital and country.

Medication, such as beta blockers, is used to decrease the stress on the aorta at the time of diagnosis or when there is progressive aortic dilatation. Genes with suboptimal coverage in our assay are marked with number sign (#) and genes with partial, or whole gene, segmental duplications in the human genome are marked with an asterisk (*) if they overlap with the UCSC pseudogene regions. The FBN1 gene is the gene associated with the true Marfan syndrome. STAT panels are not customizable in order to support the accelerated turnaround time. analyzed due to inherent sequence properties or isolated reduction in data quality.

Our pipeline is streamlined to maximize sensitivity without sacrificing specificity. Are you sure you want to proceed? The Blueprint Genetics Marfan Syndrome Panel (test code CA0801): Commonly used ICD-10 code(s) when ordering the Marfan Syndrome Panel. and your order will represent two billable events. The Marfan Syndrome Panel is designed as a genetic diagnostic tool for patients with clinical features of Marfan syndrome. We have incorporated a number of reference population databases and mutation databases including, but not limited, to 1000 Genomes Project, gnomAD, ClinVar and HGMD into our clinical interpretation software to make the process effective and efficient. (cystic fibrosis), SMN1 (spinal muscular atrophy), FMR1 (fragile X syndrome).

Individuals who have Marfan syndrome are advised to avoid contact and competitive sports and isometric exercise like weight lifting and other static forms of exercise. 2014 Sep-Oct;23(5):261-6.

If you choose to add this test, you will need to send in two sample tubes

Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, There is also considerable overlap with other connective-tissue disorders such as Loeys-Dietz syndrome (LDS), Ehlers-Danlos syndromes, arterial tortuosity syndrome, Shprintzen-Goldberg syndrome and congenital contractural arachnodactyly (CCA). Other common features include crowded teeth, a long and narrow face, dural ectasia, an abnormal curvature of the spine, and chest abnormalities. Circulation. Ectopia lentis (dislocated lens of the eye). Invitae’s deletion/duplication analysis determines copy number at a single exon © Invitae Corporation. Get answers to frequently asked questions about the genetic testing process, results, and more. J Med Genet. 2010 Apr 6;121(13):e266-369. The following exons are not included in the panel as they are not sufficiently covered with high quality sequence reads: B3GAT3 (NM_001288722:5). Identification of pathogenic or likely pathogenic variants in dominant disorders or their combinations in different alleles in recessive disorders are considered molecular confirmation of the clinical diagnosis. The sensitivity of this test may be reduced if DNA is extracted by a laboratory other than Blueprint Genetics. Some regions of the gene(s) may be removed from the panel if specifically mentioned in the ‘Test limitations” section above.

Your final cost may 2010 Jul;47(7):476-85. This panel is not customizable at this time. The following genes are required for Invitae carrier screening and will be added to your order, CFTR vary based upon your health plan design, deductible, co-insurance, and out-of-pocket limits. Dietz, HC. Genetic testing of the FBN1 gene identifies 70 - 93 percent of the mutations and is available in clinical laboratories.

Please see our sequencing and detection performance table for details regarding our ability to detect different types of alterations (Table).

In very rare cases, (circulating hematolymphoid neoplasm, bone marrow If the test includes the mitochondrial genome the target region gene list contains the mitochondrial genes. or Mitomap databases.

Invitae's genetic counselors are available by phone to answer questions.

Major criteria for establishing the diagnosis in a family member also include having a parent, child, or sibling who meets major criteria independently, the presence of an FBN-1 mutation known to cause the syndrome, or a haplotype around FBN-1 inherited by descent and identified in a familial Marfan patient(also known as genetic linkage to the gene). There are four major clinical diagnostic features: Dilatation or dissection of the aorta at the level of the sinuses of Valsava. 2014 Jun;30(6):577-89.

GeneReviews (Internet). Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. Sequence and copy number variants classified as pathogenic, likely pathogenic and variants of uncertain significance (VUS) are confirmed using bi-directional Sanger sequencing by orthogonal methods such as qPCR/ddPCR when they do not meet our stringent NGS quality metrics for a true positive call. Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base

Ann Cardiothorac Surg. The sequencing data generated in our laboratory is analyzed with our proprietary data analysis and annotation pipeline, integrating state-of-the art algorithms and industry-standard software solutions. Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. However, in rare situations, single-exon copy number events may not be Would you like to update your order to the Invitae Genetic Health Screen? Cardiovascular malformations are the most life threatening symptom of Marfan syndrome.

and other non-coding regions are not covered by this assay.

These sample types were selected in order to maximize the likelihood for high-quality DNA yield. However patients negative for the test for gene mutation should be considered for evaluation for other conditions that have similar features of Marfan syndrome such as Dietz syndrome, Ehlers Danlos syndrome, and homocystinura. Our internal database and our understanding of variants and related phenotypes increases with every case analyzed. 3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA), Saliva, assisted saliva, buccal swab and gDNA, New York Approved: In addition, the panel includes non-coding and regulatory variants if listed above (Non-coding variants covered by the panel). Individuals with clinical symptoms of Marfan syndrome may benefit from diagnostic genetic testing to better understand risks, confirm a diagnosis, or inform management.

University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK1335/, clinical features consistent with Marfan syndrome, clinical features consistent with another FBN1-related disorder, such as. 2013 Oct;132(4):e1059-72. Loeys et al., The revised Ghent nosology for the Marfan syndrome. HGMD refers to the number of variants with possible disease association in the gene listed in Human Gene Mutation Database (HGMD). of variants in the gene classified as pathogenic or likely pathogenic in this database (ClinVar); Please select only one of the proactive tests. Gene is considered to have suboptimal coverage when >90% of the gene’s target nucleotides are not covered at >20x with mapping quality score (MQ>20) reads. The features of Marfan syndrome can become apparent anytime between infancy and adulthood. Approximately 70%-93% of individuals with Marfan syndrome have an identifiable FBN1 pathogenic sequence variant or deletion/duplication. Scoliosis shortens the trunk also contributes to the arms and legs appearing too long.

Genetic Testing Registry: Marfan Syndrome. Some disease causing variants present in mtDNA are not detectable from blood, thus post-mitotic tissue such as skeletal muscle may be required for establishing molecular diagnosis. Read more about the recommended sample types for mitochondrial DNA testing and patients affected with a hematological malignancy comprehensive proactive test, we recommend the Invitae Genetic Health Screen.

Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals. Marfan syndrome is inherited in families in an autosomal dominant manner. When lens dislocation interferes with vision or causes glaucoma, surgery can be performed and an artificial lens implanted. and add these tests to your cart? embedded in sequence with complex architecture (e.g. The Invitae Marfan Syndrome Test analyzes a single gene, FBN1, which has been definitively associated with this syndrome. Martinez-Quintana, et al., A novel fibrillin 1 gene mutation leading to marfan syndrome with minimal cardiac features.

Learn if you are more likely to develop certain conditions so you can take steps to stay healthy. Tinkle BT et al. At this time, you cannot order FMR1 as an individual gene, it must be ordered with another carrier gene. Client Services with any questions. resolution at virtually all targeted exons. detected. Romaniello F. et al., Aortopathy in Marfan syndrome: an update. skin fibroblasts) is strongly recommended.

Re-requisitions are offered at no Penetrance is high for individuals with a pathogenic variant in FBN1. accessible, we also offer a patient pre-pay option of $250. What are the symptoms of Marfan syndrome? Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling. For additional information, please refer to the Test performance section and see our Analytic Validation. All rights reserved. CPT coding is the sole responsibility of the billing party. Genetic testing of the FBN1 gene identifies 70 - 93 percent of the mutations and is available in clinical laboratories.

Individuals who have Marfan syndrome are treated by a multidisciplinary medical team that includes a geneticist, cardiologist, ophthalmologist, orthopedist and cardiothoracic surgeon. This test cannot be added as a re-requisition at no additional charge because it is in a different Depending on the age of diagnosis and severity of symptoms, Marfan syndrome can be fatal early in life; however, the majority of affected individuals survive into mid- to late adulthood. The Marfan Syndrome Panel is designed as a genetic diagnostic tool for patients with clinical features of Marfan syndrome.