Test Background It has been reported that different (TA)n genotypes (polymorphisms) at the promoter of UGT1A influence bilirubin levels at baseline and during hydroxyurea therapy. The polymorphic UGT1A genotypes may affect the ability of hydroxyurea to prevent gallstone formation in patients with sickle cell anemia (Heeney et al. J Lab Clin Med 141: 279-82, 2003).…
Read MoreClaritas Genomics, a leading provider of genetic testing and interpretation services, announces that we have upgraded our laboratory equipment to enhance the accuracy and reliability of DNA sequencing. Our company has invested in the latest state-of-the-art technology, the ILLUMINA HiSeq 2500 sequencing system, which will enable Claritas Genomics to offer exceptionally accurate genetic testing services…
Read MoreHome Hannes Thor Smárason Co-Founder of NextCODE Health Hannes Thor Smárason is a prolific entrepreneur, investor, and advisor. Mr. Smárason co-founded NextCODE Health along with Dr. Jeff Gulcher. He has been a longtime advisor to deCODE and its venture investors Polaris Venture Partners and ARCH Venture Partners, and contributed to the strategy that culminated in…
Read MoreSearch Search Strengthening the bondsthat matter most Building the framework to re-define pediatric diagnosticsthrough integrated partnerships learn more Answers in Weeks,Not Years discover the power of the orthogonal approachand the CLARITAS Experience learn more
Read MoreTest by Medical Condition 16p11.2 Deletion Syndrome 16p11.2 Deletion/Duplication 1p36 Deletion Syndrome 1p36 Deletion/Duplication 1q21 Deletion Syndrome 1q21 Deletion/Duplication 1q21 Duplication Syndrome 1q21 Deletion/Duplication Abnormal Movements SLC9A6 Sequencing Achondroplasia Achondroplasia/Hypochondroplasia Mutation Analysis Acro-Renal-Ocular Syndrome (AROS) SALL4 Sequencing Acute Megakaryoblastic Leukemia GATA1 Sequencing Alagille Syndrome JAG1 Sequencing JAG1 Deletion/Duplication Aminoglycoside-Induced Hearing Loss Mitochondrial 12S rRNA Mutations…
Read MoreTest Background Mutations at the nucleotide position 7445, 7472, 7510, 7511, or 7512 for syndromic SNHL of the mitochondrial tRNASer gene have been found in some patients with non-syndromic sensorineural hearing loss (SNHL). This test does not rule out the possibility of low-level heteroplasmy for these mutations or some other mitochondrial mutations. This laboratory performs…
Read MoreTest Background The Bone Marrow Failure Region of Interest is designed in collaboration with hematology experts at Boston Childrens Hospital who identified comprehensiveness and rapid turnaround time as critical elements to a Bone Marrow Failure next-generation sequencing test. This Region of Interest covers 86 genes, making it the most comprehensive BMF sequencing test on the market.…
Read MoreMedical Director David Miller is a medical geneticist and one of our Medical Directors at Claritas Genomics. He is also an Associate Professor of Pediatrics at Harvard Medical School. Dr. Millers experience as a clinician who orders genetic tests and provides results directly to patients, combined with expertise in developing and performing clinical laboratory diagnostic…
Read MoreChief Scientific Officer at Homology Medicines Albert Seymour received his undergraduate degree in Biology from the University of Delaware and MS degree in Molecular Biology from Johns Hopkins University where he focused on the molecular genetics of cancer in the laboratory of Dr. Bert Vogelstein. He then went on to receive his PhD and post-doctoral…
Read MoreMedical Director David Miller is a medical geneticist and one of our Medical Directors at Claritas Genomics. He is also an Associate Professor of Pediatrics at Harvard Medical School. Dr. Millers experience as a clinician who orders genetic tests and provides results directly to patients, combined with expertise in developing and performing clinical laboratory diagnostic…
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