• Joubert Sendromu (Panel)

    AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, EXOC8, GLI3, INPP5E, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423


    Joubert Sendromu (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 21 Gen)

    AHI1 (608894), ARL13B (608922), C5ORF42 (614571), CC2D2A (612013), CEP290 (610142), CSPP1 (611654), INPP5E (613037), KIF7 (611254), NPHP1 (607100), OFD1 (300170), PDE6D (602676), RPGRIP1L (610937), TCTN1 (609863), TCTN2 (613846), TCTN3 (613847), TMEM138 (614459), TMEM216 (613277), TMEM231 (614949), TMEM237 (614423), TMEM67 (609884), ZNF423 (604557).