NGS of 15 gene panel: ATP7A, CNTNAP2, KCNJ1, KCNJ10, MYO5A, NRXN1, POLG, PSAT1, RAB27A, RAB3GAP1, RAB3GAP2, ROGDI, SLC12A1, TCF4, TREX1.

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Documentation:
Ref: LV3419 Categories: , , , , , , , Diseases: Aicardi-Goutieres 1, Alpers, Bartter, Griscelli, Kohlschutter-Tonz, Martsolf, Menkes, Neu-Laxova, Pitt-Hopkins, SANDO, Sesame, Warburg micro syndromesGenes: ROGDI, RAB27A, SLC12A1, RAB3GAP1, RAB3GAP2, PSAT1, POLG, KCNJ1, ATP7A, CNTNAP2, KCNJ10, NRXN1, TCF4, MYO5A, TREX1Delivery term: 42 days