NGS and bioinformatic CNVs screening, 28-gene panel: AHI1,ARL13B,B9D1,C5orf42,CC2D2A,CEP104,CEP120,CEP290,CEP41,CSPP1,INPP5E,KIAA0556,KIAA0586,MKS1,NPHP1,PDE6D,PIBF1,RPGRIP1L,SUFU,TCTN1,TCTN2,TCTN3,TMEM138,TMEM216,TMEM231,TMEM237,TMEM67,ZNF423,

Consult

Ref: LV4236 Categories: , , , , , , , Diseases: Joubert SyndromeGenes: MKS1, KIAA0556, CC2D2A, PIBF1, KIAA0586, ZNF423, RPGRIP1L, CSPP1, B9D1, CEP104, TCTN3, AHI1, NPHP1, INPP5E, TMEM138, TMEM237, PDE6D, TMEM67, TCTN2, CEP120, ARL13B, TMEM216, C5ORF42, CEP290, TCTN1, TMEM231, CEP41-2, SUFU-2Delivery term: 49 days