Bartter syndrome and related disorders NGS panel BSND, CASR, CLCNKA, CLCNKB, GNA11, KCNJ1, MAGED2, SLC12A1, SLC12A3
Del Dup
NGS
CADASIL NGS panel HTRA1, NOTCH3
Del Dup
NGS
Cerebral small vessel disease NGS panel COL4A1, COL4A2, CTC1, GLA, HTRA1, NOTCH3, TREX1
Del Dup
NGS
Fabry disease GLA
Del Dup
NGS
Hyperuricemic nephropathy, familial juvenile NGS panel REN, SEC61A1, UMOD
Del Dup
NGS
Kabuki syndrome NGS panel HNRNPK, KDM6A, KMT2D, RAB1B, RAP1A
Del Dup
NGS
Keratoconus and related disorders NGS panel MIR184, PRDM5, VSX1, ZNF469
Del Dup
NGS
Lissencephaly and related disorders NGS panel ACTB, ACTG1, ADGRG1, ARX, ATP6V0A2, B3GALNT2, B4GAT1, CDK5, DAG1, DCX, DYNC1H1, FKRP, FKTN, GMPPB, ISPD, KATNB1, KIF2A, KIF5C, LAMA2, LAMB1, LARGE1, NDE1, PAFAH1B1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RELN, RXYLT1, SNAP29, SRD5A3, TMTC3, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62
Del Dup
NGS
Lissencephaly core NGS panel ARX, CDK5, DCX, KATNB1, LAMB1, NDE1, PAFAH1B1, RELN, TMTC3, TUBA1A
Del Dup
NGS
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus NGS panel AKT3, CCND2, PIK3R2
Del Dup
NGS
Nephronophthisis and related disorders NGS panel AHI1, ANKS6, CC2D2A, CEP164, CEP290, CEP41, CEP83, DCDC2, FAN1, GLIS2, INVS, IQCB1, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, OFD1, PKHD1, RPGRIP1L, SDCCAG8, TMEM138, TMEM216, TMEM67, TRAF3IP1, TTC21B, WDR19, XPNPEP3, ZNF423
Del Dup
NGS
Popliteal pterygium syndrome NGS panel IRF6, RIPK4
Del Dup
NGS
Renal tubular dysgenesis NGS panel ACE, AGT, AGTR1, REN
Del Dup
NGS
Skraban-Deardorff syndrome WDR26
Del Dup
NGS
Sotos syndrome and related disorders NGS panel APC2, EZH2, NFIX, NSD1
Del Dup
NGS

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