CFTR

OMIMHGNC

Synonym(s): MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP, CF, ABCC7

Locus: 7q31-q32

Protein: Cystic fibrosis transmembrane conductance regulator

 

Disorders

Filter By:

Test Type
Molecular
Cytogenetic
Panel
Test Method
Sequencing, Capillary (Sanger)
Genotyping (Microarray, Beads, etc.)
Sequencing, Next Gen
Mutation Scanning of Entire Coding Region
Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)
Repeat Expansion / Contraction
Mutation Scanning of Select Exons
Prenatal/Carrier
Prenatal
Carrier
Lab Location
Canada
Czech Republic
Estonia
Germany
India
Korea, Republic of
Poland
Spain
Turkey
USA

Tests

Test
TAT: 4-6 weeks
price: contact lab
Ashkenazi Jewish Carrier Multi-Gene Panel
method(s): ◦ Sequencing, Next Gen ◦ Genotyping (Microarray, Beads, etc.) 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
TAT: 5-6 weeks
price: contact lab
Ashkenazi Jewish Carrier Screening Panel: DNA Only
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-6 weeks
price: contact lab
Bronchiectasis NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 12-13 weeks
price: contact lab
Bronchiectasis: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 5-7 weeks
price: contact lab
Carrier Screening Panel: Ashkenazi Jewish
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 7-10 days
price: contact lab
CF Mutation Analysis
method(s):
United States Air Force, DNA Diagnostic Laboratory - Keesler AFB, MS, USA
TAT: 7-10 days
price: contact lab
CF Prenatal Screening
method(s):
United States Air Force, DNA Diagnostic Laboratory - Keesler AFB, MS, USA
TAT: 1-2 weeks
price: contact lab
CF32 Carrier Screen
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA
TAT: 1-2 weeks
price: contact lab
CFTR Deletion/Duplication Analysis
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA
TAT: 2 weeks
price: contact lab
CFTR Deletion/Duplication Analysis
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 2-4 weeks
price: contact lab
CFTR Diagnostic Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA
TAT: 1-2 weeks
price: contact lab
CFTR Diagnostic Sequencing, exon specific
method(s): ◦ Sequencing, Capillary (Sanger) 
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA
TAT: 10-11 weeks
price: contact lab
CFTR Gene Sequencing and Del/Dup and RFLP and OLA
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Capillary (Sanger) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 1 week
price: contact lab
CFTR Gene Sequencing and RFLP
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Capillary (Sanger) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
CFTR Gene, Full Gene Analysis
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Capillary (Sanger) 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
CFTR Gene, Known Mutation
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Capillary (Sanger) 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
TAT: 3-4 weeks
price: contact lab
CFTR Screen by Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA
TAT: 4-5 weeks
price: contact lab
CFTR Sequencing and Deletion/Duplication Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
CFTR-related disorder test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
CFTR-Related Disorders Mutation Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
CFTR-Related Disorders Mutation Panel Sequence PND
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 4-6 weeks
price: contact lab
CFTR-Related Disorders Test
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Genotyping (Microarray, Beads, etc.) 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
TAT: 1 week
price: contact lab
CFTR-Related Disorders Test
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Nebraska Medical Center, Molecular Diagnostic Laboratory - Omaha, NE, USA
TAT: 4 weeks
price: contact lab
CFTR-Related Disorders Test
method(s): ◦ Sequencing, Capillary (Sanger) 
University of California Los Angeles, UCLA Orphan Disease Testing Center (ODTC) - Los Angeles, CA, USA
TAT: 4-6 weeks
price: $4,110.00
Chronic Pancreatitis Sanger Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4-6 weeks
price: contact lab
Ciliopathies NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 8-9 weeks
price: contact lab
Ciliopathies: Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 3-5 weeks
price: $6,790.00
Ciliopathy Deletion/Duplication Panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 5-7 weeks
price: $4,390.00
Ciliopathy NextGen Sequencing (NGS) Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 1-2 weeks
price: contact lab
CT Poly T Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA
Cystic Fibrosis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Laboratories AGEL - Novy Jicin, Czech Republic
TAT: 7-10 days
price: contact lab
Cystic fibrosis
method(s): ◦ Sequencing, Capillary (Sanger) 
Michigan State University, Clinical Genetics Laboratory - East Lansing, MI, USA
TAT: ~2 weeks
price: contact lab
Cystic Fibrosis
method(s):
GeneTech - Hyderabad, India
TAT: 4-6 weeks
price: contact lab
Cystic Fibrosis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada
Cystic Fibrosis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Cologne University, Institute of Human Genetics - Cologne, Germany
TAT: 2 weeks
price: contact lab
Cystic Fibrosis (CFTR) Whole Gene Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 3-4 weeks
price: $429.00
Cystic Fibrosis (Del/dup only)
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
Cystic Fibrosis (Full Sequence and del/dup)
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Next Gen 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: 2 weeks
price: $344.00
Cystic Fibrosis (Linkage Analysis)
method(s): ◦ Repeat Expansion / Contraction 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: 1-2 weeks
price: $302.00
Cystic Fibrosis (T/TG tract)
method(s): ◦ Sequencing, Capillary (Sanger) 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: 3-4 weeks
price: contact lab
Cystic Fibrosis 5T Variant
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: $1,310.00
Cystic Fibrosis and CF-Related Disorders via the CFTR Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $990.00
Cystic Fibrosis and CF-Related Disorders via the CFTR Gene
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Cystic fibrosis carrier testing
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Natera - San Carlos, CA, USA
TAT: 2 weeks
price: contact lab
Cystic Fibrosis CFTR Delta F508 Mutation
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
Cystic Fibrosis Diagnosis and Carrier Detection Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
TAT: 2 weeks
price: contact lab
Cystic Fibrosis Mutation Analysis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
Cystic Fibrosis Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Denver Genetics Laboratory at Children's Hospital Colorado - Aurora, CO, USA
TAT: 2-3 weeks
price: contact lab
Cystic Fibrosis, Common Mutations (Exon 4,7,9,10,11) Sequence Analysis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
Cystic Fibrosis, Mutations CFTR Gene
method(s): ◦ Mutation Scanning of Entire Coding Region 
Reference Laboratory Genetics - Barcelona, Spain
Cystic Fibrosis, Prenatal Diagnosis
method(s): ◦ Mutation Scanning of Entire Coding Region 
Reference Laboratory Genetics - Barcelona, Spain
Cystic Fibrosis, Sequencing CFTR Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 4-5 weeks
price: contact lab
Cystic Fibrosis-CFTR Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
Cystic Fibrosis-CFTR Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Cystic Fibrosis-CFTR Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks
price: contact lab
Cystic Fibrosis: CFTR Common Mutation Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-5 weeks
price: contact lab
Cystic Fibrosis: CFTR Gene Deletion/Duplication
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-5 weeks
price: contact lab
Cystic Fibrosis: CFTR Gene Sequencing
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 2-3 weeks
price: contact lab
Cystic Fibrosis; CF, Mucoviscidosis CFTR
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Entire Coding Region 
Institut fur Laboratoriumsmedizin Berlin (IFLb) - Berlin, Germany
TAT: 4-5 weeks
price: contact lab
Detection of the poly-T polymorphism, associated with male infertility
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Select Exons 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 2 weeks
price: contact lab
Infertility Panel: Male (Chromosomes, Cystic Fibrosis Common Mutations, Y-MicroDeletion)
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-6 weeks
price: contact lab
Lung NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Male Infertility Test (CFTR gene-one mutation: F508del)
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
Male Infertility Test (the CFTR gene-analysis of 7 mutations + polymorphism IVS8Tn)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
TAT: 3-4 weeks
price: contact lab
Neonatal and Adult Cholestasis: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-6 weeks
price: contact lab
Nuclear-Mito 500 NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 6-7 weeks
price: contact lab
Panel of 50 mutations and sequencing of exons and intronic regions where these mutations are contained.
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Select Exons 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 3-5 weeks
price: $2,690.00
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Deletion/Duplication Panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 5-7 weeks
price: $3,290.00
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome NextGen Sequencing (NGS) Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 12-13 weeks
price: contact lab
Pulmonary Disease: Comprehensive Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 6-7 weeks
price: contact lab
Sanger sequencing of the CFTR gene
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain