Prenatal Joubert Syndrome and Related Disorders Panel
Use
This is a prenatal panel intended to detect variants in genes implicated in Joubert syndrome and related ciliopathies, facilitating molecular diagnosis in a prenatal context where structural anomalies may be present. It supports accurate recurrence‑risk counseling and management planning for affected families.
Special Instructions
Panel includes both sequence analysis and exon‑level deletion/duplication testing of the included genes. Order using prenatal test requisition form; parental samples may be submitted for familial analysis/reflex testing. See requisition form J803 for exact instructions.
Limitations
Technical limitations include that the panel detects sequence variants (missense, nonsense, splice, indels) and exonic deletions/duplications in the included genes; may not detect deep intronic variants, regulatory region variants, or mosaicism below assay sensitivity. Updates to panel gene content may occur; refer to website for current gene list and limitations.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
Other tests from different labs that may be relevant