Test Background Noonan syndrome (NS) is characterized by short stature, heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with pectus carinatum or pectus excavatum, cryptorchidism, characteristic facies, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Mutations in the PTPN11 gene are associated with Noonan…
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Read MoreTest Background This deletion is associated with characteristic facial features, developmental delay, and hypotonia. MLPA is utilized to detect this deletion. Lab Method MLPA Order this test Vital Information Test Code: C0552 Turnaround Time: 2-3 weeks CPT Code: 81479×1 Billing Important Billing Information Forms and Documents Requisition Form
Read MoreClaritas Genomics is seeking full time laboratory genetic counselors. The laboratory currently offers a wide range of molecular clinical tests, including the use of next-generation sequencing technology, with samples received from around the world. The primary responsibility of the genetic counselor is the interpretation and preparation of result reports for molecular assays and communication with…
Read MoreTest Background FLNA mutations with presumed gain of function are reported in association with four disorders (Frontometaphyseal dysplasia, Melnick-Needles syndrome, Oto-palato-digital syndrome type I, and Oto-palato-digital syndrome type II). There is overlap of the various findings with these conditions. However, the main features are skeletal findings such as craniofacial abnormalities, scoliosis, and digit abnormalities as…
Read MoreTest Background Miller-Dieker syndrome is caused by large deletions of 17p13.3 affecting the PAFAH1B1 gene (also known as LIS1). Deletion of LIS1 is responsible for the lissencephaly, but microdeletions often include the adjacent genes HIC1 and YWHAE. This laboratory performs deletion/duplication by MLPA for this region. Gene(s) HIC1, YWHAE Lab Method MLPA Order this test…
Read MoreTest Background Patients with Diamond-Blackfan anemia (DBA) usually present in infancy with hypoplastic anemia and macrocytosis. Approximately 50% of patients have congenital malformations including anomalies of the thumb and/or upper limbs and congenital heart malformations. About 30% have delayed growth. Patients with DBA are at increased risk of developing leukemia. Most cases (55-60%) of DBA…
Read MoreSkip to main content Search form Search Search Menu The Claritas Experience Tests & Ordering Complete Test Menu How to Order Order Specimen Collection Kits Sample Requirements Data Return Program What We Do Resources Clinicians Clinical Experience Orthogonal Approach Expert Network NextCODE Services Overview Clinical Resources and Services Billing and Financial Assistance Data Return Program…
Read MoreTest Background The Pediatric Neurology Region of Interest is designed to give Providers what they want: the power of an exome with the flexibility of a panel. Built on the Claritas Clinical Exome platform, the Pediatric Neurology Region of Interest allows Providers to select gene lists based on the patient’s phenotype. If no pathogenic or…
Read MoreSkip to main content Search form Search Search Menu The Claritas Experience Tests & Ordering Complete Test Menu How to Order Order Specimen Collection Kits Sample Requirements Data Return Program What We Do Resources Clinicians Clinical Experience Orthogonal Approach Expert Network NextCODE Services Overview Clinical Resources and Services Billing and Financial Assistance Data Return Program…
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