Prenatal Joubert Syndrome and Related Disorders Panel


AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP104, CEP120, CEP290, CEP41, CSPP1, IFT172, INPP5E, KIAA0586, KIF7, MKS1, NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B


  • 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


CPT Codes*

81405x1, 81406x1, 81407x1, 81408x1

ABN Required


Turnaround Time**

3 weeks

Preferred Specimen

20 mL Amniotic Fluid

Alternative Specimen

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*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.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.