CFTR

OMIMHGNC

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

Locus: 7q31.2

Protein: Cystic fibrosis transmembrane conductance regulator

 

Disorders

Tests

Test Type
Molecular (227)
Cytogenetic (1)
Multi-Gene Panel (106)
Multi-Method Panel (88)
Test Method
Del/Dup (CNV) (88)
Mutation Scanning of Select Exons (6)
Mutation Scanning of Entire Coding Region (9)
Sequencing, Capillary (Sanger) (74)
Genotyping (Microarray, Beads, etc.) (37)
Repeat Expansion / Contraction (9)
Uniparental Disomy (1)
Sequencing, Next Gen (110)
Chromosome Analysis (2)
Prenatal/Carrier
Prenatal (95)
Carrier (142)
Lab Location
USA(133)
Estonia(2)
Germany(22)
Turkey(7)
Netherlands(1)
Denmark(1)
Korea, Republic of(1)
Czech Republic(1)
Spain(9)
Portugal(6)
Bulgaria(2)
Iran, Islamic Republic of(1)
Poland(5)
Greece(1)
Canada(27)
India(1)
Austria(1)
Finland(7)
 
TAT: 1-2 weeks
price: contact lab
508 First
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 1-2 weeks
price: contact lab
CFTR Deletion/Duplication Analysis
method(s): ◦ Del/Dup (CNV) 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 1-2 weeks
price: contact lab
CF 102 Screening Panel
method(s): ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 4-5 weeks
price: contact lab
PCDNext - Primary Ciliary Dyskinesia Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 2-4 weeks
price: contact lab
CFTR-Related Disorders Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Amplexa Genetics A/S, Amplexa Genetics, Amplexa - Odense C, Denmark
CFTR-Related Disorders Test
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
TAT: ~2 weeks
price: contact lab
Cystic Fibrosis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Detroit Medical Center University Laboratories, Molecular Genetics Diagnostic Laboratory - Detroit, MI, USA
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: 2-3 weeks
price: contact lab
Cystic Fibrosis, CFTR, Deletion/Duplication Analysis
method(s): ◦ Del/Dup (CNV) 
Oregon Health & Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA
TAT: 7-10 days
price: contact lab
Cystic Fibrosis, CFTR, Screening Test
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Oregon Health & Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA
TAT: 2-3 weeks
price: contact lab
Cystic Fibrosis, CFTR, Sequencing and Del/Dup Analysis
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Oregon Health & Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA
TAT: 1 week
price: contact lab
CFTR-Related Disorders Test
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
CFTR-Related Disorders Test
method(s): ◦ Sequencing, Next Gen 
Quest Diagnostics Nichols Institute - Virginia, Molecular Genetics Laboratory - Chantilly, VA, USA
Cystic Fibrosis Mutation Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
University of California Los Angeles, UCLA Diagnostic Molecular Pathology Laboratory - Los Angeles, CA, USA
CFTR-Related Disorders Test
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA
CFTR-Related Disorders Test
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA
CFTR-Related Disorders Test
method(s): ◦ Sequencing, Capillary (Sanger) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
CFTR-Related Disorders Test
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
CFTR-Related Disorders Test
method(s): ◦ Del/Dup (CNV) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
Hereditary Pancreatitis Test
method(s): ◦ Sequencing, Capillary (Sanger) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
TAT: 2-4 weeks
price: contact lab
CFTR Full Gene Sequencing
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Capillary (Sanger) 
LabCorp, Molecular Genetics and Genomics - Research Triangle Park, NC, USA
Ashkenazi Jewish Carrier Multi-Gene Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
Ashkenazi Jewish Carrier Multi-Gene Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
TAT: 2-3 weeks
price: contact lab
Cystic Fibrosis Carrier Testing
method(s): ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
CFTR-related disorder test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
TAT: 2-3 weeks
price: contact lab
Cystic Fibrosis; CF, Mucoviscidosis CFTR
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Institut fur Laboratoriumsmedizin Berlin (IFLb) - Berlin, Germany
TAT: 3-4 weeks
price: contact lab
Cystic Fibrosis 5T Variant
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
Cystic Fibrosis-CFTR Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
Cystic Fibrosis-CFTR Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
Cystic Fibrosis-CFTR Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks
price: contact lab
CFTR Deletion/Duplication Analysis
method(s): ◦ Del/Dup (CNV) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
CFTR Sequencing and Deletion/Duplication Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
CFTR-Related Disorders Mutation Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
CFTR-Related Disorders Mutation Panel Sequence PND
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Baylor Miraca Genetics Laboratories - Houston, TX, 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
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: 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
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
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: 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 Sequencing
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: 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: 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: 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: 12-13 weeks
price: contact lab
Bronchiectasis: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
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: 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
Cystic Fibrosis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Hospital for Sick Children, Genome Diagnostics Laboratory (formerly Molecular Genetics Laboratory) - Toronto, Canada
TAT: 4 weeks
price: $2,450.00
Cystic Fibrosis (Full Sequence and del/dup)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
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: 2 weeks
price: $344.00
Cystic Fibrosis (Linkage Analysis)
method(s): ◦ Repeat Expansion / Contraction 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
Cystic Fibrosis Diagnosis and Carrier Detection Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
CFTR Gene, Full Gene Analysis
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
TAT: 6-7 weeks
price: contact lab
Sanger sequencing of the CFTR gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
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: 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: 1-2 weeks
price: contact lab
CFTR Deletion/Duplication Analysis
method(s): ◦ Del/Dup (CNV) 
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, 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: 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: 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
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: 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: 10-11 weeks
price: contact lab
CFTR Gene Sequencing and Del/Dup and RFLP and OLA
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Genotyping (Microarray, Beads, etc.) ◦ Del/Dup (CNV) 
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): ◦ Sequencing, Capillary (Sanger) ◦ Genotyping (Microarray, Beads, etc.) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
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
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
TAT: ~2 weeks
price: contact lab
Cystic Fibrosis
method(s):
GeneTech - Hyderabad, India
Cystic Fibrosis Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Denver Genetics Laboratory at Children's Hospital Colorado - Aurora, CO, USA
Cystic Fibrosis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Laboratories AGEL a.s. - Novy Jicin, Czech Republic
Cystic Fibrosis
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Cologne University, Institute of Human Genetics - Cologne, Germany
Cystic Fibrosis, Mutations CFTR Gene
method(s): ◦ Mutation Scanning of Entire Coding Region 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Cystic Fibrosis, Prenatal Diagnosis
method(s): ◦ Mutation Scanning of Entire Coding Region 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Cystic Fibrosis, Sequencing CFTR Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 1 week
price: contact lab
CFTR-Related Disorders, CFTR Mutation Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Indiana University Medical Center, School of Medicine, Indiana University Molecular Genetics Diagnostic Laboratory - Indianapolis, IN, USA
TAT: 7-10 days
price: contact lab
Cystic Fibrosis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
TAT: 2 weeks
price: contact lab
CFTR-Related Disorders, CFTR Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Indiana University Medical Center, School of Medicine, Indiana University Molecular Genetics Diagnostic Laboratory - Indianapolis, IN, USA
TAT: 2 weeks
price: contact lab
CFTR-Related Disorders, CFTR Gene Deletion/Duplication
method(s): ◦ Del/Dup (CNV) 
Indiana University Medical Center, School of Medicine, Indiana University Molecular Genetics Diagnostic Laboratory - Indianapolis, IN, USA
Cystic Fibrosis (CFTR) 165 Pathogenic Variants
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Cystic Fibrosis (CFTR) 165 Pathogenic Variants with Reflex to Sequencing
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Capillary (Sanger) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Cystic Fibrosis (CFTR) 165 Pathogenic Variants with Reflex to Sequencing and Reflex to Deletion/Duplication
method(s): ◦ Del/Dup (CNV) ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Capillary (Sanger) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Cystic Fibrosis (CFTR) Deletion/Duplication
method(s): ◦ Del/Dup (CNV) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Cystic Fibrosis (CFTR) Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Cystic Fibrosis (CFTR) Sequencing with Reflex to Deletion/Duplication
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Cystic Fibrosis (CFTR) 165 Pathogenic Variants, Fetal
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Cystic Fibrosis (CFTR) Cis-Trans, R117H and 5T Variants
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 4-5 weeks
price: contact lab
Pancreatitis Panel (CTRC, CFTR, PRSS1 and SPINK1) Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Cystic Fibrosis , Deletions-Duplications (MLPA) CFTR Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Inherited Disease Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Hereditary Pancreatitis, Panel Massive Sequencing (NGS) 5 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-6 weeks
price: $2,750.00
Cystic Fibrosis and Related Diseases NGS Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
Mitochondrial Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Cystic Fibrosis (ΔF508 mutation of CFTR gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Cystic Fibrosis
method(s): ◦ Del/Dup (CNV) 
Burc Molecular Genetics Laboratory - Istanbul, Turkey
TAT: ~2 weeks
price: contact lab
Cystic Fibrosis Intron 9 poly T analysis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Detroit Medical Center University Laboratories, Molecular Genetics Diagnostic Laboratory - Detroit, MI, USA
TAT: 2-3 days
price: contact lab
Baby Genes Newborn Screening Panel
method(s): ◦ Chromosome Analysis ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Mutation Scanning of Select Exons ◦ Sequencing, Next Gen ◦ Uniparental Disomy 
Baby Genes Inc - Golden, CO, USA
Cystic Fibrosis (CFTR)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
CFTR-Related Hereditary Pancreatitis
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
CFTR-Related Disorders Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Burc Molecular Genetics Laboratory - Istanbul, Turkey
Cystic Fibrosis Comprehensive Sequencing
method(s): ◦ Sequencing, Next Gen 
All Children's Hospital, Johns Hopkins Medicine, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
Cystic Fibrosis
method(s): ◦ Sequencing, Capillary (Sanger) 
L.E.S. Mikrogen Genetic Diagnosis Center - Ankara, Turkey
Hereditary Pancreatitis
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 6-8 weeks
price: contact lab
PulmoGene Panel (64 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - Cambridge, MA, USA
TAT: 6-8 weeks
price: contact lab
Bronchiectasis Panel (17 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - Cambridge, MA, USA
Cystic Fibrosis CFTR / Mucoviscidosis / CFTR-Related Disorders
method(s): ◦ Mutation Scanning of Select Exons ◦ Sequencing, Capillary (Sanger) 
University of Bonn, Institute of Human Genetics - Bonn, Germany
TAT: 2-3 weeks
price: contact lab
CFTR Prenatal Full Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
LabCorp, Molecular Genetics and Genomics - Research Triangle Park, NC, USA
TAT: 3-5 weeks
price: contact lab
Severe Recessive Childhood Diseases
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-4 weeks
price: $400.00
Cystic Fibrosis, CFTR
method(s): ◦ Sequencing, Next Gen 
Neoscreen, Ltd. - Athens, Greece
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
TAT: 2-3 weeks
price: contact lab
Cystic Fibrosis, CFTR, Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Oregon Health & Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA
Cystic fibrosis (deletion/duplication analisis on CFTR gene)
method(s): ◦ Del/Dup (CNV) 
CGC Genetics - Porto, Portugal
Cystic fibrosis (sequence analysis of CFTR gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Pancreatitis (sequence analysis of CFTR gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
Single gene testing CFTR
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Select Exons ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
Pan-Ethnic Carrier Screen: Gene Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Pan-Ethnic Carrier Screen: Targeted Mutation Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Pulmonary Disease: Comprehensive Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Pulmonary Disease: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Neonatal and Adult Cholestasis: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Neonatal and Adult Cholestasis: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Bronchiectasis: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Bronchiectasis: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Cystic Fibrosis: CFTR Common Mutation Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Cystic Fibrosis: CFTR Expanded Mutation Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Cystic Fibrosis: CFTR Gene Deletion/Duplication
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Cystic Fibrosis: CFTR Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Ciliopathies: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Ciliopathies: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 4 weeks
price: contact lab
Cystic fibrosis (frequent mutations of CFTR gene)
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
CFTR-Related Disorders Test
method(s): ◦ Sequencing, Next Gen 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
CFTR - Panel of the most common Bulgarian mutations
method(s): ◦ Mutation Scanning of Select Exons 
GMDL Genica - Sofia, Bulgaria
CFTR Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GMDL Genica - Sofia, Bulgaria
Hereditary Pancreatitis Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
Ashkenazi Jewish genetic disease panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: 2-3 days
price: contact lab
Cystic Fibrosis Mutation Screen by Invader®
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Cedars-Sinai Medical Center, Division of Molecular Pathology - Los Angeles, CA, USA
Askenazi Jewish Carrier Multi-Gene Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA
Cystic Fibrosis (CFTR) 97 mutations
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA
Cystic Fibrosis (CFTR) Gene Sequencing
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Next Gen 
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA
CFTR intron 8 poly (T) analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA
TAT: 2-4 weeks
price: contact lab
Pancreatitis Panel (CFTR, PRSS1, SPINK1, CTRC)
method(s): ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
Pulmonary Disease: Comprehensive Sequencing Extended Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Pan-Ethnic Carrier Screen: Mutation and SMA Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Inheritest NGS, Ashkenazi Jewish Ancestry Panel
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA
Inheritest NGS, Society Guided Panel
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA
TAT: 4-6 Weeks
price: contact lab
Bronchiectasis NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
CFTR
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Chronic Pancreatitis NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Ciliopathies NGS Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Lung Disorders NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Nuclear-Mito NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Hereditary pancreatitis (NGS panel for 5 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 2-3 weeks
price: contact lab
Horizon 4 (SMA, CF, Fragile X, DMD)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
TAT: 2-3 weeks
price: contact lab
Horizon 27 (Pan-ethnic Standard Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
TAT: 2-3 weeks
price: contact lab
Horizon 106 (Comprehensive Jewish Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
TAT: 2-3 weeks
price: contact lab
Horizon 274 (Pan-Ethnic Extended Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
Infertility Panel: Male
method(s): ◦ Chromosome Analysis ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 2-3 weeks
price: contact lab
Horizon 137 (Pan-Ethnic Intermediate Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
TAT: 7-10 days
price: contact lab
CFTR Gene Sequence Analysis
method(s): ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 7-10 days
price: contact lab
Cystic Fibrosis (CFTR gene sequence with reflex to deletion/duplication)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 7-10 days
price: contact lab
Cystic Fibrosis (CFTR gene sequence and deletion/duplication concurrent)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 1-2 weeks
price: contact lab
CFTR Poly T/TG Repeat Analysis
method(s): ◦ Del/Dup (CNV) 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 3-4 weeks
price: $690.00
Cystic Fibrosis and CF-Related Disorders via the CFTR 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
Chronic Pancreatitis Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,670.00
Ciliopathy Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,290.00
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
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): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,790.00
Chronic Pancreatitis Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $2,990.00
Ciliopathy Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,990.00
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Pancreatitis (Pankreatitis)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 2-3 weeks
price: contact lab
Congenital bilateral absence of vas deferens
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-3 weeks
price: contact lab
Cystic fibrosis
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-4 weeks
price: contact lab
Family Prep Screen
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Counsyl, Inc., Counsyl - South San Francisco, CA, USA
TAT: 1 week
price: contact lab
CEN4GEN rapid carrier screen: Full gene sequencing panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 1 week
price: contact lab
CEN4GEN rapid diagnostic screen: Full gene sequencing panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 1 week
price: contact lab
Congenital bilateral absence of the vas deferens (CVAD): Full gene sequencing (Rapid testing)
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 1 week
price: contact lab
Cystic Fibrosis: Full gene sequencing (Rapid testing)
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 1 week
price: contact lab
Neonatal hypertrypsinemia: Full gene sequencing (Rapid testing)
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 2-4 weeks
price: contact lab
Ashkenazi Jewish Carrier Screening
method(s): ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Pan-European Carrier Screening
method(s): ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-6 weeks
price: contact lab
Impairment of the transport in hepatocytes and cholangiocytes panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 6-7 weeks
price: contact lab
CFTR - Gene Sequencing and CNV analysis
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
VU University Medical Center, Genome Diagnostics Amsterdam - Amsterdam, Netherlands
CFTR-Related Disorders Test
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Genomic Research Center, Shahid Beheshti University of Medical Sciences - Tehran, Iran, Islamic Republic of
TAT: 2-3 weeks
price: contact lab
CentoICU Platinum
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-5 weeks
price: $2,240.00
Disorders of Sex Development and Infertility Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,670.00
Disorders of Sex Development and Infertility Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $2,190.00
Male Infertility Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,670.00
Male Infertility Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 days
price: contact lab
CEN4GEN Rapid supplemental newborn screen: Full gene sequencing panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: ~2 weeks
price: $1,200.00
Male Fertility NGS Panel (11 Genes Sequenced)
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
EvolveGene - St. Petersburg, FL, USA
TAT: ~2 weeks
price: $1,500.00
Cystic Fibrosis (CFTR Sequencing)
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
EvolveGene - St. Petersburg, FL, USA
TAT: ~2 weeks
price: $690.00
j-FamilyReady Carrier Screen (17 Genes Sequenced)
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
EvolveGene - St. Petersburg, FL, USA
TAT: 4-5 weeks
price: contact lab
Global infertility panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 1-3 weeks
price: $1,500.00
Invitae Chronic Pancreatitis Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Metabolic Disorders Newborn Screening Confirmation Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Cystic Fibrosis Test
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Cystic Fibrosis Newborn Screening Confirmation Test
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 4-5 weeks
price: contact lab
Male infertility panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-5 weeks
price: contact lab
Pancreatitis panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks
price: contact lab
Bronchiectasis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Cholestasis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Ciliopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Pancreatitis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Primary Ciliary Dyskinesia Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Pulmonology Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Cystic Fibrosis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Bronchiectasis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Cholestasis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Ciliopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Pancreatitis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Primary Ciliary Dyskinesia Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Comprehensive Pulmonology Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Cystic Fibrosis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 2 weeks
price: contact lab
GeneAware Complete Panel Version 2 (Female)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks
price: contact lab
GeneAware Complete Panel Version 2 (Male)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks
price: contact lab
GeneAware Ashkenazi Jewish Panel Version 2 (Female)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks
price: contact lab
GeneAware Ashkenazi Jewish Panel Version 2 (Male)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks
price: contact lab
GeneAware ACMG/ACOG Panel Version 2 (Female)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks
price: contact lab
GeneAware ACMG/ACOG Panel Version 2 (Male)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks
price: contact lab
GeneAware Basic Panel Version 2 (Female)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks
price: contact lab
GeneAware Basic Panel Version 2 (Male)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
Phosphorus Pan Cancer Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Phosphorus Diagnostics - Livingston, NJ, USA
Phosphorus Pancreatic Cancer Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Phosphorus Diagnostics - Livingston, NJ, USA