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Alphabetical order

Disease Gene OMIM TAT in weeks
Kabuki syndrome1,4      
KABUK1 MLL2/KMT2D 602113 2-4
KABUK2 KDM6A 300867 2-4
NGS 999999 4-6
Kallmann syndrome1,3,4      
- FGFR1, PROKR2, PROK2, KISS1R, NELF, GNRH1, GNRHR 300836 3-4
- KISS1 2-4
- KISS1R 2-4
NGS 4-8
type 1 KAL1/ANOS1 300836 2-4
type 1 KAL1/ANOS1 300836 2-4
type 2 FGFR1 136350 2-4
type 3 PROKR2 607123 2-4
type 4 PROK2 607002 2-4
type 5 CHD7 608892 2-4
type 6 FGF8 600483 2-4
Kennedy syndrome AR 313200 2-3
Ketogenesis disorder      
NGS ACADM, ACADVL, HADHA, HADHB, HMGCL, HMGCS2 4-8
Ketolysis disorder      
NGS ACAT1, GYS2, HIBADH, HMGCL, HSD17B10, OXCT1, SLC16A1 2-4
Kniest dysplasia1,3      
Kniest dysplasia COL2A1 120140 4-6
Kniest dysplasia COL2A1 120140 4-6
Knobloch syndrome      
type 1 COL18A1 120328 2-4
Krabbe disease GALC 606890 6-10

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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.