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Other syndromal disorders
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Other syndromal disorders

 

 For any questions regarding clinical issues, please get in contact with Prof. Dr. C. Netzer, MD (+49-221-478-89586, [Email protection active, please enable JavaScript.]). The panel diagnostics request forms (German) for the different rare diseases can be found in the respective subsections.

 

 

 

Bardet-Biedl syndrome

standard panel (#28)
ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, LZTFL1, MKKS, MKS1, SDCCAG8, TTC8

(14 genes, 24.2 kb)

complete 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)

 

click here to get to the request form

 

Coffin-Siris-Syndrom

standard panel (#018): Coffin-Siris syndrome, genes according to Tsurusaki et al., Clin Genet 2014 und 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

click here to get to the request form

 

Dystroglycanopathies

complete panel (#021): Dystroglycanopathies, congenital disorders of glycosylation, 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)

standard panel (#022): Dystroglycanopathies, congenital disorders of glycosylation, genes 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)

click here to get to the request form

 

Epileptic encephalopathy

complete panel (#020): Epileptic encephalopathies of infancy and childhood, 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

click here to get to the request form

 

Jeune syndrome

standard panel (#40)
DYNC2H1, EVC, EVC2, IFT80, WDR34

(5 genes, 23.8 kb)

complete 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)

click here to get to the request form

 

Joubert syndrome

standard panel (#024)
AHI1, CC2D2A, CEP290, RPGRIP1L, TMEM138, TMEM216, TMEM237, TMEM67

(8 genes, 24.9 Kb)

MLPA: NPHP1

complete 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

click here to get to the request form

 

Meckel-Gruber syndrome

standard panel (#26)
CC2D2A, CEP290, MKS1, RPGRIP1L, TMEM216, TMEM231, TMEM67

(7 genes, 23.1kb)

complete panel (#27)
B9D1, B9D2, CC2D2A, CEP290, KIF14, MKS1, NPHP3, RPGRIP1L, TCTN2, TMEM216, TMEM231, TMEM67

(12 genes, 34.6 kb)

click here to get to the request form