|
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 |
|
Connective tissue disorder NGS panel |
ACTA2, ADAMTS2, AEBP1, ATP7A, B3GALT6, B4GALT7, BGN, C1R, C1S, CBS, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DCHS1, DSE, FBN1, FBN2, FKBP14, FLCN, FLNA, FOXE3, LOX, LTBP3, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, ZNF469 |
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, RAP1A, RAP1B |
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 |
|
Skeletal dysplasia and skeletal ciliopathy NGS panel |
ALPL, ARSE, C21orf2, C2CD3, CEP120, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, DDR2, DYNC2H1, DYNC2LI1, EBP, EVC, EVC2, FGFR3, FLNB, HSPG2, ICK, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, INPPL1, KIAA0586, KIAA0753, LBR, LIFR, MMP13, MMP9, NEK1, NKX3-2, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC26A2, SLC35D1, SOX9, TCTEX1D2, TRIP11, TRPV4, TTC21B, WDR19, WDR34, WDR35, WDR60 |
Del Dup NGS |
|
Skraban-Deardorff syndrome |
WDR26 |
Del Dup NGS |
|
Sotos syndrome and related disorders NGS panel |
APC2, EZH2, NFIX, NSD1 |
Del Dup NGS |
