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Bone and connective tissue diseases

We perform molecular genetic investigation of the hereditary bone and connective tissue diseases listed below.
Please use our request form when sending samples.

If you require further information please do not hesitate to contact us.

Disease (gene) Method Material Processing time
Achondroplasia (FGFR3) 1. Sequencing exon 9 (R380R) in approx. 99% of cases
2. Sequencing exons 7 & 8
3. Sequencing (complete)
EDTA blood / DNA 1. 8-10 days
2. 8-10 days
3. 2-3 weeks
Amelogenesis imperfecta, 1B [AD] (ENAM)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Amelogenesis imperfecta, 1C [AR] (ENAM)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Apert/Crouzon/Pfeiffer syndrome (FGFR2)* 1.Sequencing exon 7: Apert syndrome
2. Sequencing (complete) & MLPA
EDTA blood 1. 8-10 days
2. 2-3 weeks
Arthrogryposis multiplex congenital, distal, 1 (TPM2)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Arthrogryposis multiplex congenital, distal, 2A (MYH3) 1. Sequencing exons 6,9,10,12,15,16,18,21,22,34
2. Sequencing (complete)
EDTA blood / DNA 1. 1-2 weeks
2. 2-3 weeks
Arthrogryposis multiplex congenital, distal, 2B (TNNT3) Sequencing (complete) EDTA blood / DNA 2-3 weeks
Arthrogryposis multiplex congenital, distal, 2B (TNNI2) Sequencing (complete) EDTA blood / DNA 2-3 weeks
Arthrogryposis multiplex congenital, distal, 2B (MYH3) 1. Sequencing exons 6,9,10,12,15,16,18,21,22,34
2. Sequencing (complete)
EDTA blood / DNA 1. 1-2 weeks
2. 2-3 weeks
Chondroplasia punctata 2 (EBP)* Sequencing (complete) EDTA blood / DNA 2-3 weeks

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