Prenatal Joubert Syndrome and Related Disorders Panel
Genes
Conditions
- COACH Syndrome
- Joubert Syndrome
- Meckel-Gruber Syndrome
- Oral-Facial Digital Type 6
Clinical Utility
- Prenatal imaging findings suggestive of JSRD including molar tooth sign, other structural brain malformations, encephalopcele, renal disease, polydactyl, and cleft/lip palate
Lab Method
- Next-Gen Sequencing
- Deletion/Duplication Analysis
Test Code
J803
CPT Codes*
81405x1, 81406x1, 81407x1, 81408x1, 81479x1
ABN Required
No
Turnaround Time**
3 weeks
Preferred Specimen
Alternative Specimen
*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.
Test Documents
Billing
Targeted Variant Testing