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: 81404

Deletion/duplication Analysis: 81229
Cost $1800 for sequencing

$350 for known mutation

$700 for deletion/duplication analysis

Prenatal diagnosis for known mutation is $1000.  Please contact the laboratory for more information.

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.

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.

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