Our test menu has expanded, again! This month, we have added 11 new Spotlight™ panels, three new Focus™ panels, and one new Comprehensive panel, across multiple disorder types.
Many of the new panels address a category of multi-system disorders called ciliopathies. These genetic diseases affect the cell’s cilia structures and can cause respiratory problems, loss of hearing, blindness, and kidney and heart failure. The new panels include:
- Ciliopathy Focus Panel (153 genes)
- COACH Syndrome Spotlight Panel (3 genes)
- Senior-Loken Syndrome Spotlight Panel (9 genes)
- Meckel-Gruber Syndrome Spotlight Panel (12 genes)
- Primary Ciliary Dyskinesia Spotlight Panel (35 genes)
- Primary Ciliary Dyskinesia with CTFR Spotlight Panel (36 genes)
We have also expanded our selection of endocrinology tests with the addition of tests for monogenic obesity and hereditary pancreatitis. The Monogenic Obesity Panel (33 genes) looks at genes associated with both non-syndromic obesity and syndromes in which obesity is prominent feature such as Alstrom syndrome, Bardet-Biedl syndrome and Cohen syndrome. The Hereditary Pancreatitis Spotlight Panel (6 genes) tests for genes associated with hereditary pancreatitis, or inflammation of the pancreas, which may be causitive or confer susceptibility for hereditary pancreatitis.
The Neuromuscular Comprehensive Panel (305 genes) covers genes that are associated with neuromuscular disorders, including Leigh syndrome, mitochondrial complex IV deficiency, congenital myopathies and more. Neuromuscular disorders are complex conditions caused by abnormal structure or function of the muscles or of the central or peripheral nervous system. There is a range of clinical findings that include hypotonia, progressive muscle weakness, loss of motor milestones, motor delay, contractures and exercise intolerance.
The Bone Disorder/O.I. Focus Panel (62 genes) tests for genes associated with osteogenesis imperfecta and other disorders characterized by increased or decreased bone density, such as osteoporosis or osteopetrosis, leading to an increased risk and incidence of fractures.
Finally, the Connective Tissue Focus Panel (84 genes) tests for genes associated with connective tissue disorders, including Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome and related disorders, thoracic aortic aneurysm, and more.
Check out our Test Menu page to learn more about these and other panels we have available.