PHOX2A

OMIMHGNC

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

Locus: 11q13.4

Protein: Phox2a protein

 

Disorders

Tests

Test Type
Molecular (14)
Multi-Gene Panel (7)
Multi-Method Panel (4)
Test Method
Del/Dup (CNV) (7)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (7)
Repeat Expansion / Contraction (1)
Sequencing, Next Gen (5)
Prenatal/Carrier
Prenatal (10)
Carrier (11)
Lab Location
Portugal(1)
USA(7)
Germany(3)
Spain(3)
 
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 - Hospitalet de Llobregat, 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) Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: ~2 weeks
price: contact lab
Fibrosis of extraocular muscles, congenital type 2
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Central hypoventilation syndrome, congenital
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
Congenital Extraocular Muscles Fibrosis Type 2, Sequencing PHOX2A Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Congenital Extraocular Muscles Fibrosis, Panel Massive Sequencing (NGS) 4 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3-5 weeks
price: $1,890.00
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $840.00
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4-5 weeks
price: contact lab
Central hypoventilation syndrome panel
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany