NCF1

OMIMHGNC

Synonym(s): p47phox, NOXO2, NCF1A, SH3PXD1A

Locus: 7q11.23

Protein: Neutrophil cytosol factor 1

 

Disorders

Tests

Test Type
Molecular (13)
Multi-Gene Panel (8)
Multi-Method Panel (5)
Test Method
Del/Dup (CNV) (3)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (7)
Genotyping (Microarray, Beads, etc.) (2)
Sequencing, Next Gen (5)
Prenatal/Carrier
Prenatal (9)
Carrier (10)
Lab Location
Spain(4)
USA(5)
Germany(2)
Finland(2)
 
Chronic Granulomatous Disease, X-linked Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Denver Genetics Laboratory at Children's Hospital Colorado - Aurora, CO, USA
TAT: 5-6 weeks
price: contact lab
Detection of mutation c.75_76delGT in the NCF1 gene
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Select Exons 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 6-7 weeks
price: contact lab
CGD Tier 1
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: 5-6 weeks
price: contact lab
NCF1 (Exon 2) Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
Chronic Granulomatous Disease, Sequencing NCF1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: ~2 weeks
price: contact lab
Chronic Granulomatous Disease (CYBB Gene Scanning and NCF1 Exon 2 GT Deletion) with Reflex to CYBB Sequencing
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 7-10 days
price: contact lab
Chronic Granulomatous Disease (NCF1) Exon 2 GT Deletion
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 4-6 weeks
price: contact lab
Defects of Phagocytosis Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Inflammatory Bowel Disease (IBD) and Related Disorders, Panel Massive Sequencing (NGS) 56 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3-4 weeks
price: contact lab
Primary Immunodeficiency Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Chronic Granulomatous Disease Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
Chronic Granulomatous Disease, Panel Massive Sequencing (NGS) 5 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: ~2 weeks
price: contact lab
Granulomatous disease, chronic, autosomal recessive, cytochrome b- positive, type 1
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany