Prenatal Joubert Syndrome and Related Disorders Panel


Genes

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

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

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.

**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.