Prenatal Skeletal Dysplasia Panel
Use
Skeletal dysplasias are a genetically heterogeneous group of disorders affecting bone and cartilage development, often detectable prenatally via ultrasound but requiring molecular testing for definitive diagnosis. These disorders have variable etiologies including chromosomal abnormalities and single‑gene pathogenic variants across a large number of causative genes. The panel assists in precise molecular diagnosis to inform prognosis, genetic counseling, and management decisions.
Special Instructions
Order code 949; submit with fetal specimen. If sufficient fetal material is submitted, testing can be performed concurrently with other panels (per requisition instructions).
Limitations
Due to genetic heterogeneity and overlapping phenotypes, imaging alone is insufficient for diagnosis; this panel detects variants only in included genes and may not detect all skeletal dysplasias. Detection is limited to sequence-level variants; other variant types (e.g. structural rearrangements) or genes not included may be missed.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Cultured Cells
Volume
Not provided
Minimum Volume
Not provided