PLCB4

OMIMHGNC

Locus: 20p12.3-p12.2

Protein: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4

 

Disorders

Tests

Test Type
Molecular (4)
Multi-Method Panel (2)
Test Method
Del/Dup (CNV) (2)
Sequencing, Capillary (Sanger) (2)
Sequencing, Next Gen (3)
Prenatal/Carrier
Prenatal (2)
Carrier (1)
Lab Location
Portugal(1)
USA(1)
Germany(2)
 
Auriculocondylar syndrome 2 (sequence analysis of PLCB4 gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 4-5 Weeks
price: contact lab
PLCB4
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: ~2 weeks
price: contact lab
Auriculocondylar syndrome type 2
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-3 weeks
price: contact lab
CentoICU Platinum
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany