An overview of our services
 standard mutation
Surfactant protein SP-B (congenital alveolar proteinosis) mutation screening (*)
ABCA3 mutation screening (surfactant deficiency)
Surfactantprotein SP-C mutation-screening
Surfactant protein SP-A-1 and 2 mutation screening
Surfactant protein SP-D screening
GMCSF-R beta chain mutation screening
ATP7B (Wilson's Disease) mutation screening
HFE (Hereditary Hemochromatosis Type 1)
ABCC6 (Pseudoxanthoma elasticum) mutation screening
Notch3 mutation screening (CADASIL)
SOD1 mutation screening (Amyotrophic Lateral Sclerosis Type 1)
BCHE mutation screening ( Butyrylcholinesterase deficiency)
FANCA mutation screening (Fanconi anemia)
DMPK-1 mutation screening 
(myotonic dystrophy, Curschmann-Steinert syndrome)
 custom gene analysis
SNP and mutation screening by DNA sequencing
 detection of
Ribotyping (ribosomal DNA sequencing) 
Ureaplasma urealyticum
Detection and identification of Candida species in swabs, faeces and urine samples
custom analysis

nucleic acid isolation

nucleic acid purification

gel electrophoresis

amplification protocol development

primer design

restriction analysis


DNA sequencing

PCR product cloning

 GeneScan® fragment
GeneScan run and data collection on an ABI-sequencer
We offer 48 hour service, 7 days a week for urgent medical gene analysis 
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