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GP9
173515


Scheme


Mutations


Pedigree


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Sprache
wechseln

Platelet glycoprotein IX

Scientific background:

Methodology:

 

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

 

clinical
test
Method Carrier testing
Turn-around time 5 working days
Effort little
Specimen DNA
Quality assessment Internal quality control only
  The test is only specific about the mutation already known in this kindred.

Systematic link table: 

Bernard-Soulier syndrome
GP1BA
GP1BB
GP9

Literature: