PCYT1A

OMIMHGNC

Synonym(s): CT, CTPCT, PCYT1

Locus: 3q29

Protein: Choline-phosphate cytidylyltransferase A

 

Disorders

Tests

Test Type
Molecular (11)
Multi-Gene Panel (6)
Multi-Method Panel (3)
Test Method
Del/Dup (CNV) (5)
Sequencing, Capillary (Sanger) (3)
Sequencing, Next Gen (7)
Prenatal/Carrier
Prenatal (7)
Carrier (7)
Lab Location
USA(8)
Germany(2)
Portugal(1)
 
TAT: 2-3 weeks
price: $1,230.00
Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $680.00
Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: $650.00
Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4-6 weeks
price: contact lab
Cone Rod Dystrophies Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Cone-rod dystrophy (NGS panel of 33 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 4-6 weeks
price: contact lab
Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-5 Weeks
price: contact lab
PCYT1A
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-4 weeks
price: $1,900.00
Spondylo-Epi-Metaphyseal dysplasias
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,500.00
Spondylo-Epi-Metaphyseal dysplasias
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $3,250.00
Spondylo-Epi-Metaphyseal dysplasias
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-5 weeks
price: $2,390.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA