Bardet-Biedl syndrome, McKusick-Kaufman syndrome, Borjeson-Forssman-Lehmann syndrome, Alström syndrome, Albright hereditary osteodystrophy NGS panel

Genes
(full
coding region):
ALMS1, ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CCDC28B, CEP290, GNAS, LZTFL1, MKS1, MKKS, PHF6, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP

Lab method: Next generation sequencing

Price / TAT: 1314 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA
Send blood samples at room temperature. Blood samples can be preserved at 2-8°C before shipping. Blood samples are recommended not to freeze and not to store longer than one week.

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
Send DNA samples at room temperature or frozen. To avoid sample loss and contamination, please use 0,5-2,0 ml screw cap tubes, tubes with safe lock lid or wrap the caps of each microtube with parafilm. The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form
Enclose the filled form in the package
Send samples to the following address:

Asper Biotech
Vaksali 17a
Tartu 50410
Estonia