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Categorical order

Epigenetic disorder
Disease Gene OMIM TAT in weeks
Angelman syndrome      
sequence analysis UBE3A UBE3A 601623 2-4
SNRPN, UBE3A 182279,601623 2-4
4-8
Beckwith-Wiedemann syndrome      
Methylation analysis H19-DMR and KvDMR1 H19, KCNQ1OT1 103280,604115 2-4
sequence analysis CDKN1C CDKN1C 600856 4-6
Multi-locus imprinting defects PLAGL1, GRB10, MEST, H19, KCNQ1OT1, DLK1, MEG3, RTL1, SNRPN, PEG3, GNAS 603044,601523,601029,103280,604115,176290,611896,182279,601483,139320 2-4
Silver-Russell syndrome      
MLPA analysis UPD(7)mat GRB10, MEST 2-4
Methylation analysis H19-DMR and KvDMR1 H19, KCNQ1OT1 103280,604115 2-4
Temple syndrome      
MLPA analysis UPD(14)mat 2-4
Uniparental disomy      
2-4
2-4
2-4
2-4
2-4
2-4
2-4
2-4
2-4
2-4
2-4
2-4
2-4
2-4
2-4
2-4
2-4
2-4
2-4

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¹ We offer molecular testing for all genes known for this disease. In some cases, specific genotype - phenotype correlations exist that allow for targeted testing. Please contact us.
² We offer linkage analysis where applicable (e. g., samples available from several family members, parental consanguinity) for prioritization of genes to be tested.
³ Step-by-step analysis
All Analysis are carried out ‚Äčin Ingelheim, exceptions are those marked with *, which are carried out in ‚Äčcollaborating laboratories.

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