Prenatal Joubert Syndrome and Related Disorders Panel

Forms and Documents

Test Details

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.
  • Prenatal imaging findings suggestive of JSRD including molar tooth sign, other structural brain malformations, encephalopcele, renal disease, polydactyl, and cleft/lip palate
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis


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


81405x1, 81406x1, 81407x1, 81408x1, 81265x1
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