TEST CODE: 008845
DIAGNOSTIC TEST FOR: MALFORMATIONS
TURNAROUND TIME: 10–21 calendar days (14 days on average)
PREFERRED SPECIMEN: 3mL whole blood in a purple-top tube
ALTERNATE SPECIMENS: DNA or saliva/assisted saliva
Genetic testing for Malformations
Our panels include over 3,900 genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.
Inherited skeletal diseases are difficult to subtype and classify into categories. The design and gene selection of our skeletal disease panels follows Bonafe et al. (Nosology and Classification of Genetic Skeletal Disorders: 2015 Revision; PMID: 26394607).
In addition to many disorder-specific panels, larger disease groups are also targeted. Specifically, our Macrocephaly/Overgrowth Syndrome Panel and Microcephaly and Pontocerebellar Hypoplasia Panel are suitable for patients with abnormalities in skull structure and symptoms that substantially overlap with neurological diseases. Similarly, our Neuronal Migration Disorder Panel covers a broader set of genes related to holoprosencephaly, lissencephaly, and polymicrogyria. Additionally, our Comprehensive Skeletal/Malformation Syndrome Panel covers all genes included in the unique panels, providing maximal differential diagnostic power in the field.What genetic diagnostics can offer patients with hereditary malformations
Genetic diagnostics is the most efficient way to subtype these diseases and provide the necessary information to make confident individualized treatment and management decisions. Moreover, identifying the causative mutation establishes the mode of inheritance within the family, which is essential for well-informed genetic counseling. Additionally, genetic diagnosis can help in family planning.
What are the benefits of genetic testing?
Genetic testing produces information that may help you or your healthcare provider:
– establish or confirm your specific diagnosis
– provide an explanation of the underlying cause of your heart condition
– uncover potential risk of developing an underlying, multi-system condition that affects more than your heart
– make informed medical decisions and provide an opportunity to start risk reduction strategies
– identify other at-risk relatives for whom genetic testing is recommended
– make informed family planning decisions
Genomed’s Malformations panels
– Malformations panels
– 3-M Syndrome / Primordial Dwarfism Panel
– Adams-Oliver Syndrome Panel
– Amelogenesis Imperfecta and Dentinogenesis Imperfecta Panel
– Arthrogryposes Panel
– Brachydactyly / Syndactyly Panel
– Cerebral Cavernous Malformation Panel
– Chondrodysplasia Punctata Panel
– Cleft Lip/Palate and Associated Syndromes Panel
– Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel
– Comprehensive Short Stature Syndrome Panel
– Comprehensive Skeletal Dysplasias and Disorders Panel
– Cornelia de Lange Syndrome Panel
– Craniosynostosis Panel
– Exostosis and Related Disorders Panel
– Facial Dysostosis and Related Disorders Panel
– Gastrointestinal Atresia Panel
– Heterotaxy and Situs Inversus Panel
– Hirschsprung Disease Panel
– Holoprosencephaly Panel
– Kabuki Syndrome Panel
– Limb Malformations Panel
– Lissencephaly Panel
– Lymphatic Malformations and Related Disorders Panel
– Macrocephaly / Overgrowth Syndrome Panel
– Meier-Gorlin Syndrome Panel
– Metaphyseal Dysplasia Panel
– Microcephaly and Pontocerebellar Hypoplasia Panel
– Micromelic Dysplasia Panel
– Neurofibromatosis Panel
– Neuronal Migration Disorder Panel
– Osteogenesis Imperfecta Panel
– Osteopetrosis and Dense Bone Dysplasia Panel
– Polymicrogyria Panel
– Seckel Syndrome Panel
– Septo-Optic Dysplasia Panel
– Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel
– Skeletal Dysplasia with Abnormal Mineralization Panel
– Skeletal Dysplasias Core Panel
– Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel
– Vascular Malformations Panel
Please contact us for the complete list of genes included on the multi-Malformations panel and associated conditions.
What are the potential results?
A POSITIVE TEST RESULT CAN:
If testing identifies a variant associated with heart disease, consult with your healthcare provider to create a management plan and to identify relatives who may need to be tested.
A NEGATIVE TEST RESULT:
If testing identifies no variants associated with a hereditary heart disease, the underlying cause of your heart condition remains unknown. As our knowledge of genetics improves, additional genetic testing may become available.
AN UNCERTAIN VARIANT TEST RESULT:
In some cases, testing can identify a variant, but it is not known at this time whether the variant is associated with heart disease. If new information about your family history of heart conditions becomes available, this could change what your test results mean for you and your relatives. Always let your healthcare provider know if there are any updates regarding your family medical history.
Take action based on your results.
With Genomed, you can make health decisions based on your results. Our medical-grade tests are the same tests used by doctors and genetic counselors. Based on your results, you can work with your healthcare provider to consider:
– increased or earlier screenings
– lifestyle modifications
– early intervention to prevent the onset of disease