Invitae Perinatal Lethal Skeletal Dysplasia and Skeletal Ciliopathies Panel
Use
The Invitae Perinatal Lethal Skeletal Dysplasia and Skeletal Ciliopathies Panel analyzes genes associated with disorders causing skeletal dysplasia often resulting in perinatal death, characterized by abnormal growth and skeletal development. These conditions' genetic heterogeneity can complicate diagnosis based solely on phenotype. Broad panel testing allows efficient evaluation of several potential genes, confirming diagnoses and guiding treatment, management, recurrence-risk assessment, and genetic counseling.
Special Instructions
The panel covers clinically important regions of each gene, including coding exons and adjacent intronic sequences, depending on the gene or test. Select non-coding variants are covered, but variants outside these regions are not analyzed. For details on covered and excluded regions or variant types, consult the test definition on our website.
Limitations
This assay is highly sensitive and specific for single nucleotide variants, insertions, and deletions 99% analytical sensitivity. Sensitivity for insertions and deletions larger than 15bp but smaller than a full exon may be marginally reduced. Certain variants, like structural rearrangements or those in complex sequences, may not be detected. Rarely, due to data quality or sequence properties, single-exon copy number events may go unanalyzed. Sequence changes in non-coding regions are typically not covered.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)