PI4KA

OMIMHGNC

Synonym(s): PI4K-ALPHA, pi4K230, PIK4CA

Locus: 22q11.21

Protein: Phosphatidylinositol 4-kinase alpha

 

Disorders

Tests

Test Type
Molecular (5)
Multi-Gene Panel (1)
Multi-Method Panel (2)
Test Method
Del/Dup (CNV) (3)
Sequencing, Capillary (Sanger) (2)
Sequencing, Next Gen (3)
Prenatal/Carrier
Prenatal (1)
Carrier (3)
Lab Location
USA(3)
Germany(2)
 
TAT: 4-6 weeks
price: contact lab
Cerebral Cortical Malformations Deletion / Duplication panel
method(s): ◦ Del/Dup (CNV) 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4-6 weeks
price: contact lab
Neuronal Migration Disorders Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-5 Weeks
price: contact lab
PI4KA
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks
price: contact lab
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-6 weeks
price: contact lab
Neuromuscular Comprehensive Panel
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA