PHOX2A

OMIMHGNC

Synonym(s): PMX2A, CFEOM2, ARIX, FEOM2

Locus: 11q13.4

Protein: Phox2a protein

 

Disorders

Tests

Test Type
Molecular (7)
Multi-Gene Panel (3)
Multi-Method Panel (1)
Test Method
Del/Dup (CNV) (3)
Sequencing, Capillary (Sanger) (4)
Sequencing, Next Gen (2)
Prenatal/Carrier
Prenatal (3)
Carrier (5)
Lab Location
Portugal(1)
USA(5)
Spain(1)
 
Fibrosis of extraocular muscles, congenital 2 (sequence analysis of PHOX2A gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Cardiology Genetic Panel (Full), Panel Massive Sequencing (NGS) 110 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 4-5 Weeks
price: contact lab
PHOX2A
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks
price: $690.00
Congenital Central Hypoventilation Syndrome (CCHS) via the PHOX2A Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $840.00
Congenital Central Hypoventilation Syndrome (CCHS) Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $540.00
Congenital Central Hypoventilation Syndrome (CCHS) via the PHOX2A Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-4 weeks
price: $1,540.00
Congenital Central Hypoventilation Syndrome (CCHS) NextGen Sequencing (NGS) Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA