Homepage  
SymptomsDiseasesGenetestsShipmentSampleContactQuality
   
 


BBS2
606151


Scheme


Mutations


Pedigree


Forms


Print page


Sprache
wechseln

BBS2 gene

Scientific background:

Summary: This is one of 12 genes involved in Bardet-Biedl syndrome.

Methodology:

 

research
test
Method Genomic sequencing of the entire coding region
Turn-around time 10 working days
Effort 10 working days
Specimen DNA
Quality assessment Internal quality control only
  All known and new missense, nonsense and splice mutations can be detected.

Systematic link table: 

Bardet-Biedel syndrome
ARL6
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
MKKS
PTHB1
TRIM32
TTC8

Literature: 

Kwitek-Black AE et al. (1993) Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.