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Categorical order

Connective tissue disorder
Disease Gene OMIM TAT in weeks
Ehlers-Danlos syndrome1,3      
NGS ADAMTS2, B4GALT7, CHST14, COL1A1, COL1A2, COL3A1, 4-6
hypermobile type TNXB 600985 2-4
type 1 COL5A1 120215 2-4
type 1 COL5A2 120190 2-4
type 2 COL5A1 120215 2-4
type 2 COL5A2 120190 2-4
type 6 PLOD1 153454 2-4
type 7A COL1A1 120150 2-4
type 7B COL1A2 120160 2-4
vascular type COL3A1 120180 2-4
vascular type COL3A1 120180 2-4
Frasier sydrome3 WT1 607102 2-4
Loeys-Dietz syndrome1,3      
Loeys-Dietz syndrome TGFBR1 190181 2-4
Loeys-Dietz syndrome TGFBR2 190182 2-4
Marfan syndrome1,3      
Marfan syndrome FBN1 134797 2-4
NGS FBN1, TGFBR1, TGFBR2 134797, 190181, 190182 4-6
Trichorhinophalangeal syndrome, type I      
MLPA TRPS1 604386 2-4
alpha-1-antitrypsin deficiency SERPINA1 107400 2-3
surfactant protein deficiency      
surfactant protein deficiency ABCA3 601615 3-4
surfactant protein deficiency SFTPB 178640 3-4
surfactant protein deficiency SFTPC 3-4

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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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