Coffin-Lowry Syndrome (RSK2) Sequencing
| Disorder | Coffin-Lowry syndrome | |
| Gene Name | RPS6KA3 | |
| Clinical info | Coffin-Lowry syndrome is an X-linked intellectual disability condition caused by mutations in the protein kinase gene, RPS6KA3, localized to Xp22. Males present with moderate to severe developmental delay, coarse facies, large soft hands with short tapering fingers, hypotonia, joint hyperextensibility and skeletal changes. Carrier females have mild intellectual impairment and short stature, coarse face, prominent lips, soft fleshy hands with thick tapering fingers. Decreased levels of ribosomal S6 kinase activity can be observed in white cells but usually only after establishing a cell line. | |
| Indications | Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for carrier testing and prenatal diagnosis. | |
| Detection | A mutation in RPS6KA3 will be indentified in approximately 90-95% of patients with Coffin-Lowry syndrome. | |
| Specimen Requirements | 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml. | |
| Transport | The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. Do not freeze the specimen. | |
| Turnaround time | 6 weeks | |
| Prenatal testing | Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen. | |
| CPT Codes | Unknown mutation 81479 Known mutation 81479 |
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| Cost | $1800 for sequencing $350 for known mutation |
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| Contact | For further information contact This email address is being protected from spambots. You need JavaScript enabled to view it. , MS, Lab Counselor at 1-800-473-9411. | |
Form Needed
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Kellie King, MS, CGC
Molecular Diagnostic Lab
The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.