Invitae Coffin-Lowry Syndrome Test

Clinical Use

Use

The Invitae Coffin-Lowry Syndrome Test analyzes RPS6KA3 (also known as RSK2), a gene associated with Coffin-Lowry syndrome (CLS), an X-linked developmental disorder characterized by severe to profound intellectual disability and developmental delay in males. Heterozygous carrier females can be as severely affected as males, show mild intellectual impairment, or have no clinical phenotype. Genetic testing of this gene may confirm a diagnosis and help guide treatment and management. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling.

Special Instructions

Not provided.

Limitations

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity.

Test Details

New York Approved