Other syndromic diseases

Small panel (#28)

ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, LZTFL1, MKKS, MKS1, SDCCAG8, TTC8 
(14 genes, 24,2 kb)

Large panel (#71)

ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, CEP290, IFT27, IFT74, LZTFL1, MKKS, MKS1, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP
(22 genes, 42 kb)

Small panel (#018): Coffin-Siris syndrome, genes according to Tsurusaki et al., Clin Genet 2014 and Wieczorek et al., Human Molecular Genetics 2013

ARID1A*, ARID1B*, PHF6, SMARCA4, SMARCB1, SMARCE1
(6 genes, 22,1 kb)

Single gene diagnostics:

ARID1A*, ARID1B*, PHF6, SMARCA4, SMARCB1, SMARCE1

Large panel (#021): Dystroglycanopathy, congenital glycosylation disorder, genes according to NCBI GeneReviews, OMIM database

ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, B4GALT1, CAD, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DOLK, DPAGT1, DPM1, DPM2, DPM3, GMPPA, MAGT1, MAN1B1, MGAT2, MOGS, MPDU1, MPI, PGM1, 1. PMM2, RFT1, SLC35A1, SLC35A2, SLC35C1, SRD5A3, SSR4, STT3A, STT3B, TMEM165, TUSC3, PGM3
(43 genes, 70,22 kb)

Small panel (#022): Dystroglycanopathy, congenital glycosylation disorder, selection according to NCBI GeneReviews

ALG1, ALG12, ALG3, ALG6, ALG8, COG5, COG6, DPAGT1, DPM1, MPDU1, MPI, 1. PMM2, RFT1, SRD5A3, TMEM165, TUSC3, PGM3
(17 genes, 22,93 kb)

Large panel (#020): Epileptic encephalopathy in infants and children, genes according to McTague et al., Lancet Neurol 2016

AARS, ALG13, ARX, BRAT1, CACNA2D2, CDKL5, CHD2, DNM1, DOCK7, FLNA, FOXG1, GABRA1, GABRB3, GNAO1, GRIN1, GRIN2A, HCN1, IQSEC2, KCNA2, KCNQ2, KCNQ3, KCNT1, MEF2C, MTOR, NDP, NECAP1, NRXN1, PCDH19, PIGA, PLCB1, PTEN, QARS, SCN1A, SCN2A, SCN8A, SETBP1, SIK1, SLC12A5, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SPTAN1, ST3GAL3, STXBP1, TBC1D24, TCF4, WWOX
(49 genes, 150,25 kb)

Single gene diagnostics:

BRAT1, SCN2A

Small panel (#40)

DYNC2H1, EVC, EVC2, IFT80, WDR34 
(5 genes, 23,8 kb)

Large panel (#69)

CEP120, DYNC2H1, DYNC2LI1, EVC, EVC2, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, KIAA0586, NEK1, TTC21B, WDR19, WDR34, WDR35, WDR60
(18 genes, 66,7 kb)

Small panel (#024)

AHI1, CC2D2A, CEP290, RPGRIP1L, TMEM138, TMEM216, TMEM237, TMEM67 
(8 genes, 24,9 kb)

MLPA: NPHP1

Large panel (#025)

AHI1, ARL13B, ATXN10, B9D1, B9D2, C5ORF42, CC2D2A, CEP104, CEP290, CEP41, CSPP1, INPP5E, KIAA0556/KATNIP, KIAA0586, KIF7, MKS1, NPHP1*, NPHP3, OFD1, PDE6D, POC1B, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, ZNF423 
(31 genes, 85,2 kb)

MLPA: NPHP1

Single gene diagnostics:

NPHP1*, NPHP3

Small panel (#26)

CC2D2A, CEP290, MKS1, RPGRIP1L, TMEM216, TMEM231, TMEM67 
(7 genes, 23,1 kb)

Large panel (#27)

B9D1, B9D2, CC2D2A, CEP290, KIF14, MKS1, NPHP3, RPGRIP1L, TCTN2, TMEM216, TMEM231, TMEM67 
(12 genes, 34,6 kb)