Short Rib Skeletal Dysplasia Panel
Use
The Short Rib Skeletal Dysplasia Panel is intended for individuals who present with clinical features suggestive of short rib skeletal dysplasia or who have a family history of the condition but lack access to specific variant information. This test can aid in the genetic diagnosis and management of patients by identifying pathogenic variants in 19 relevant genes, which may be responsible for this hereditary condition.
Special Instructions
This test is New York approved and utilizes next-generation sequencing (NGS) with copy number variation (CNV) analysis, conducted on either exome or genome platforms. Testing options include STAT processing, adding a surcharge if the report exceeds the standard timeline. Specific specimen types required may vary depending on the platform used.
Limitations
The test may not detect every pathogenic variant related to short rib skeletal dysplasia due to the limitations inherent in NGS and CNV methodologies. Variants in regions not covered or that are of low quality may go undetected. CNV analysis may miss small insertions or deletions not detectable by exome or genome sequencing.
New York Approved
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Can be used for Exome and Genome Platforms.