CFTR gene related symptoms and diseases

All the information presented here about the CFTR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CFTR gene

Symptoms // Phenotype % Cases
Obstructive azoospermia Uncommon - Between 30% and 50% cases
Cough Uncommon - Between 30% and 50% cases
Azoospermia Uncommon - Between 30% and 50% cases
Abnormal lung morphology Rare - less than 30% cases
Abdominal pain Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with CFTR gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Pain
  • Absent vas deferens
  • Elevated sweat chloride
  • Steatorrhea
  • Vomiting
  • Neoplasm of the pancreas
  • Male infertility
  • Diabetes mellitus

And 143 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CFTR gene

Here you will find a list of rare diseases related to the CFTR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ADENOCARCINOMA OF THE ESOPHAGUS


Alternate names

ADENOCARCINOMA OF THE ESOPHAGUS Is also known as esophageal adenocarcinoma, barrett metaplasia

Description

Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC; see this term) affecting the glandular cells of the lower esophagus at the junction with the stomach.

Most common symptoms of ADENOCARCINOMA OF THE ESOPHAGUS

  • Dysphagia
  • Obesity
  • Gastroesophageal reflux
  • Feeding difficulties in infancy
  • Cough


More info about ADENOCARCINOMA OF THE ESOPHAGUS

SOURCES: OMIM MESH ORPHANET

GILLES DE LA TOURETTE SYNDROME; GTS


Alternate names

GILLES DE LA TOURETTE SYNDROME; GTS Is also known as ts, tourette syndrome, tourette disorder

Description

Tourette syndrome is a neurobehavioral disorder manifest particularly by motor and vocal tics and associated with behavioral abnormalities. Tics are sudden, brief, intermittent, involuntary or semi-voluntary movements (motor tics) or sounds (phonic or vocal tics). They typically consist of simple, coordinated, repetitive movements, gestures, or utterances that mimic fragments of normal behavior. Motor tics may range from simple blinking, nose twitching, and head jerking to more complex throwing, hitting, or making rude gestures. Phonic tics include sniffling, throat clearing, blowing, coughing, echolalia, or coprolalia. Males are affected about 3 times more often than females, and onset usually occurs between 3 and 8 years of age. By age 18 years, more than half of affected individuals are free of tics, but they may persist into adulthood (review by Jankovic, 2001).

Most common symptoms of GILLES DE LA TOURETTE SYNDROME; GTS

  • Behavioral abnormality
  • Depressivity
  • Pectus excavatum
  • Myoclonus
  • Hyperactivity


More info about GILLES DE LA TOURETTE SYNDROME; GTS

SOURCES: MESH OMIM

CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS


Alternate names

CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS Is also known as congenital bilateral agenesis of vas deferens, cavd, congenital bilateral aplasia of vas deferens

Description

Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility.

Most common symptoms of CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS

  • Infertility
  • Renal agenesis
  • Azoospermia
  • Male infertility
  • Oligospermia


More info about CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS

SOURCES: ORPHANET OMIM

CYSTIC FIBROSIS


Alternate names

CYSTIC FIBROSIS Is also known as mucoviscidosis, cf

Description

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.

Most common symptoms of CYSTIC FIBROSIS

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Pain
  • Hypertension


More info about CYSTIC FIBROSIS

SOURCES: ORPHANET OMIM

HEREDITARY CHRONIC PANCREATITIS


Alternate names

HEREDITARY CHRONIC PANCREATITIS Is also known as hp, pancreatitis, chronic, hpc

Description

Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas.

Most common symptoms of HEREDITARY CHRONIC PANCREATITIS

  • Neoplasm
  • Pain
  • Fever
  • Vomiting
  • Diabetes mellitus


More info about HEREDITARY CHRONIC PANCREATITIS

SOURCES: OMIM ORPHANET

BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1


Alternate names

BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1 Is also known as cystic fibrosis-like syndrome

Most common symptoms of BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1

  • Dehydration
  • Abnormal lung morphology
  • Bronchiectasis
  • Sinusitis
  • Recurrent pneumonia


More info about BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1

SOURCES: OMIM MESH

MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION


Description

Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.

Most common symptoms of MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION

  • Decreased testicular size
  • Azoospermia
  • Increased circulating gonadotropin level
  • Abnormal spermatogenesis
  • Obstructive azoospermia


More info about MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION

SOURCES: ORPHANET

AQUAGENIC PALMOPLANTAR KERATODERMA


Alternate names

AQUAGENIC PALMOPLANTAR KERATODERMA Is also known as aquagenic keratoderma, aquagenic wrinkling of the palms, transient reactive papulotranslucent acrokeratoderma, aquagenic syringeal acrokeratoderma


More info about AQUAGENIC PALMOPLANTAR KERATODERMA

SOURCES: ORPHANET

IDIOPATHIC BRONCHIECTASIS


Description

Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).


More info about IDIOPATHIC BRONCHIECTASIS

SOURCES: ORPHANET


Potential gene panels for CFTR gene

Ashkenazic Genetic Disease Panel Panel

United States.

By Baylor Miraca Genetics Laboratories Ashkenazic Genetic Disease Panel that also includes the following genes: CFTR HEXA ELP1 ASPA

More info about this panel

CFTR - 5T Variant Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the CFTR gene.

More info about this panel

CFTR Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the CFTR gene.

More info about this panel

CFTR Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the CFTR gene.

More info about this panel

CFTR Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the CFTR gene.

More info about this panel

CFTR Sequence Analysis (Familial Mutation/Variant Analysis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the CFTR gene.

More info about this panel

CFTR Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the CFTR gene.

More info about this panel

GeneAware Complete Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

GeneAware Complete Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

GeneAware Basic Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Basic Panel Version 2 (Female) that also includes the following genes: SMN1 CFTR DMD FMR1 HBA1 HBA2 HBB

More info about this panel

GeneAware Basic Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Basic Panel Version 2 (Male) that also includes the following genes: SMN1 CFTR HBA1 HBA2 HBB

More info about this panel

GeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Female) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1

More info about this panel

GeneAware ACMG/ACOG Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware ACMG/ACOG Panel Version 2 (Male) that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HBA1 HBA2 HBB

More info about this panel

GeneAware Ashkenazi Jewish Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Male) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1

More info about this panel

GeneAware ACMG/ACOG Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware ACMG/ACOG Panel Version 2 (Female) that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR DMD FANCC FMR1 GBA HBA1

More info about this panel

Cystic Fibrosis Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center

This panel specifically test the CFTR gene.

More info about this panel

Comprehensive Pulmonary Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC

More info about this panel

Primary Ciliary Dyskinesia and Cystic Fibrosis Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Primary Ciliary Dyskinesia and Cystic Fibrosis Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G SPAG1 RSPH1 CFAP298 NME8 LRRC6 INVS

More info about this panel

Cystic Fibrosis Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the CFTR gene.

More info about this panel

Hereditary Pancreatitis (PRSS1, SPINK1, CTRC, CFTR) Panel

United States.

By Center for Human Genetics, Inc Hereditary Pancreatitis (PRSS1, SPINK1, CTRC, CFTR) that also includes the following genes: SPINK1 CFTR CTRC PRSS1

More info about this panel

CFTR NextGen Sequencing with reflex to deletion/duplication analysis Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the CFTR gene.

More info about this panel

CFTR Gene Analysis: Del-Dup Targeted Exonic Microarray Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the CFTR gene.

More info about this panel

Test for CFTR-Related Disorders Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis and CF-Related Disorders NGS Panel Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Cystic Fibrosis and CF-Related Disorders NGS Panel that also includes the following genes: SCNN1A SCNN1B SCNN1G CA12 CFTR

More info about this panel

Cystic Fibrosis Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis: CFTR linkage analysis Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis Panel

United States.

By Center for Genetics at Saint Francis Saint Francis Hospital

This panel specifically test the CFTR gene.

More info about this panel

CFTR-related disorders Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis Mutation Analysis Panel

United States.

By Molecular Pathology Laboratory University of Pennsylvania Health System

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis Screening Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis, Sequencing Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis, Sequencing and Deletion/Duplication Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis, Deletion/Duplication Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University

This panel specifically test the CFTR gene.

More info about this panel

Ciliopathies Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Ciliopathies that also includes the following genes: RPE65 RPGR SDCCAG8 TSC1 TSC2 CEP41 TULP1 USH1C USH2A CLRN1

More info about this panel

CFTR Targeted Mutation Analysis for Cystic Fibrosis Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the CFTR gene.

More info about this panel

CFTR-related disorders Panel

United States.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis (CF) Profile, 32 Mutations, DNA Analysis Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis (CF) Profile, 32 Mutations, Fetal Analysis Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis (CF) Profile, 97 Mutation, CFplus Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis (CF) Profile, 97 Mutations, CFplus, Fetal Analysis Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis (CF): CFTR Deletion/Duplication Analysis Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the CFTR gene.

More info about this panel

Pancreatitis: Three-gene Profile (PRSS1, SPINK1, CFTR) (Full Gene Sequencing) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta Pancreatitis: Three-gene Profile (PRSS1, SPINK1, CFTR) (Full Gene Sequencing) that also includes the following genes: SPINK1 CFTR PRSS1

More info about this panel

Cystic Fibrosis (CFTR) Sequencing Panel

United States.

By Genetics Laboratory Shodair Children's Hospital

This panel specifically test the CFTR gene.

More info about this panel

CFTR related to idiopathic pancreatitis Panel

United States.

By Genetics Laboratory Shodair Children's Hospital

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis Panel

United States.

By Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation

This panel specifically test the CFTR gene.

More info about this panel

Liver Diseases Deletion/duplication panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Deletion/duplication panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1 ABCG5 ABCG8 NPC2

More info about this panel

Liver Diseases Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Panel by next-generation sequencing (NGS) that also includes the following genes: SCP2 SLC10A1 SLC10A2 SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1

More info about this panel

Pancreas Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Pancreas Panel that also includes the following genes: SPINK1 CASR UBR1 CEL CFTR SBDS CLDN2 CPA1 CTRC PRSS1

More info about this panel

Pancreatic Insufficiency Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Pancreatic Insufficiency Panel that also includes the following genes: UBR1 CEL CFTR SBDS

More info about this panel

Pancreas Panel Deletion/duplication Analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Pancreas Panel Deletion/duplication Analysis that also includes the following genes: SPINK1 CASR CFTR CTRC

More info about this panel

Cystic Fibrosis Mutation and Cystic Fibrosis Prenatal Panel

United States.

By United States Air Force Molecular Diagnostic Laboratory United States Air Force

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis Panel

United States.

By Michigan State University Clinical Genetics Laboratory Michigan State University

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the CFTR gene.

More info about this panel

CFTR Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the CFTR gene.

More info about this panel

Bronchiectasis Panel (17 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Bronchiectasis Panel (17 Genes) that also includes the following genes: SCNN1A SCNN1B SCNN1G RSPH1 NME8 DNAI2 CFTR DNAAF2 RSPH9 RSPH4A

More info about this panel

PulmoGene Panel (64 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine PulmoGene Panel (64 Genes) that also includes the following genes: RPGR BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC

More info about this panel

Cystic Fibrosis (CFTR) Sequencing with Reflex to Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis (CFTR) Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis (CFTR) Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the CFTR gene.

More info about this panel

Pancreatitis, Panel (CTRC, CFTR, PRSS1, SPINK1) Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Pancreatitis, Panel (CTRC, CFTR, PRSS1, SPINK1) Sequencing that also includes the following genes: SPINK1 CFTR CTRC PRSS1

More info about this panel

Cystic Fibrosis (CFTR) 165 Pathogenic Variants, Fetal Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis (CFTR) 165 Pathogenic Variants with Reflex to Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis (CFTR) 165 Pathogenic Variants with Reflex to Sequencing and Reflex to Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis (CFTR) 165 Pathogenic Variants Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the CFTR gene.

More info about this panel

Genetic Carrier Screen, (CF, FXS, and SMA) with Reflex to Methylation Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Genetic Carrier Screen, (CF, FXS, and SMA) with Reflex to Methylation that also includes the following genes: SMN1 SMN2 CFTR FMR1

More info about this panel

Cystic Fibrosis Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the CFTR gene.

More info about this panel

Cystic fibrosis Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust

This panel specifically test the CFTR gene.

More info about this panel

CFTR 508FIRST reflex gene sequence and deletion/duplication Panel

United States.

By Ambry Genetics

This panel specifically test the CFTR gene.

More info about this panel

CFTR gene sequence and deletion/duplication Panel

United States.

By Ambry Genetics

This panel specifically test the CFTR gene.

More info about this panel

PCDNext Panel

United States.

By Ambry Genetics PCDNext that also includes the following genes: RPGR SPAG1 NME8 LRRC6 DNAI2 CFTR DNAAF2 RSPH9 RSPH4A CCDC39

More info about this panel

Pancreatitis Panel Panel

United States.

By Ambry Genetics Pancreatitis Panel that also includes the following genes: SPINK1 CFTR CTRC PRSS1

More info about this panel

CFTR. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CFTR gene.

More info about this panel

CFTR. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CFTR gene.

More info about this panel

CFTR. Detection of the polymorphism poli-T associated to male infertility Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CFTR gene.

More info about this panel

CFTR. Detection of frequent mutations (>1%) in the Spanish population Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CFTR gene.

More info about this panel

CFTR. Detection of the mutation p.Phe508del by Real Time PCR Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CFTR gene.

More info about this panel

CFTR-Related Disorders Panel

Argentina.

By CIBIC S.A.

This panel specifically test the CFTR gene.

More info about this panel

Pancreatitis Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pancreatitis Del/Dup Panel that also includes the following genes: SPINK1 CASR CFTR CTRC

More info about this panel

CFTR Seq + Del/Dup Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia

This panel specifically test the CFTR gene.

More info about this panel

Pancreatitis Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pancreatitis Seq Analysis that also includes the following genes: SPINK1 CASR CFTR CTRC PRSS1

More info about this panel

Pancreatitis Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pancreatitis Seq + Del/Dup Panel that also includes the following genes: SPINK1 CASR CFTR CTRC PRSS1

More info about this panel

CFTR Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia

This panel specifically test the CFTR gene.

More info about this panel

CFTR Del/Dup Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia

This panel specifically test the CFTR gene.

More info about this panel

Cholestasis Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cholestasis Seq + Del/Dup Panel that also includes the following genes: SLC25A13 TJP2 VPS33B NPC2 HSD3B7 CFTR CLDN1 VIPAS39 ATP8B1 AKR1D1

More info about this panel

Primary Ciliary Dyskinesia Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Primary Ciliary Dyskinesia Seq + Del/Dup Panel that also includes the following genes: RPGR SPAG1 RSPH1 NME8 LRRC6 INVS CCNO DNAI2 CFTR HYDIN

More info about this panel

Congenital Diarrhea Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Seq Analysis that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR

More info about this panel

Primary Ciliary Dyskinesia Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Primary Ciliary Dyskinesia Seq Analysis that also includes the following genes: RPGR SPAG1 RSPH1 NME8 LRRC6 INVS CCNO DNAI2 CFTR HYDIN

More info about this panel

Comprehensive Pulmonary-Vascular Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq Analysis that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1

More info about this panel

Comprehensive Pulmonary-Vascular Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1

More info about this panel

Primary Ciliary Dyskinesia Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Primary Ciliary Dyskinesia Del/Dup Panel that also includes the following genes: RPGR SPAG1 RSPH1 NME8 LRRC6 INVS CCNO DNAI2 CFTR HYDIN

More info about this panel

Cholestasis Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cholestasis Del/Dup Panel that also includes the following genes: SLC25A13 TJP2 VPS33B NPC2 HSD3B7 CFTR CLDN1 VIPAS39 ATP8B1 AKR1D1

More info about this panel

Congenital Diarrhea Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Del/Dup Panel that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR

More info about this panel

Congenital Diarrhea Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Seq + Del/Dup Panel that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR

More info about this panel

Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1

More info about this panel

Cystic Fibrosis Panel

United States.

By PerkinElmer Genetics, Inc.

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis Panel

United States.

By Molecular Pathology New York Presbyterian Hospital - Weill Cornell Medical Center

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis Panel

United States.

By Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital

This panel specifically test the CFTR gene.

More info about this panel

Cystic fibrosis Panel

Portugal.

By CGC Genetics

This panel specifically test the CFTR gene.

More info about this panel

Cystic fibrosis (sequence analysis of CFTR gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CFTR gene.

More info about this panel

Pancreatitis idiopathic (sequence analysis of CFTR gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CFTR gene.

More info about this panel

Cystic fibrosis (deletion/duplication analisis on CFTR gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CFTR gene.

More info about this panel

Cystic fibrosis (frequent mutations of CFTR gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CFTR gene.

More info about this panel

Cystic fibrosis (?F508 mutation of CFTR gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CFTR gene.

More info about this panel

cystic fibrosis, 50 European disease mutations Panel

Poland.

By Laboratory of Genetics BioTe21 Adam Master

This panel specifically test the CFTR gene.

More info about this panel

CYSTIC FIBROSIS Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the CFTR gene.

More info about this panel

Cystic fibrosis Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the CFTR gene.

More info about this panel

Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel with CNV Detection that also includes the following genes: RPGR SPAG1 RSPH1 CFAP298 NME8 LRRC6 INVS CCNO DNAI2 CFTR

More info about this panel

Cystic Fibrosis and CF-Related Disorders via CFTR Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CFTR gene.

More info about this panel

Ciliopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ciliopathy Sequencing Panel with CNV Detection that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 ZIC3 CFAP298 ARL6 NEK8 TMEM237

More info about this panel

Chronic Pancreatitis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Chronic Pancreatitis Sequencing Panel with CNV Detection that also includes the following genes: SPINK1 CASR CFTR CTRC PRSS1

More info about this panel

Male Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1

More info about this panel

Interstitial Lung Disease Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Interstitial Lung Disease Sequencing Panel with CNV Detection that also includes the following genes: SFTPA2 SFTPB SFTPC SLC34A2 SLC7A7 SMPD1 STAT3 TERC TERT TINF2

More info about this panel

Cystic fibrosis Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the CFTR gene.

More info about this panel

CFTR-Related Disorders Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"

This panel specifically test the CFTR gene.

More info about this panel

CFTR-Related Disorders Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the CFTR gene.

More info about this panel

CFTR-Related Hereditary Pancreatitis Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the CFTR gene.

More info about this panel

Pulmonary diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Pulmonary diseases - panels that also includes the following genes: BMPR1B BMPR2 TBX4 CAV1 CAV3 NME8 ACVRL1 SARS2 CCNO DNAI2

More info about this panel

Hepatic and pancreatic diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Hepatic and pancreatic diseases - panels that also includes the following genes: SLCO1B1 SLCO1B3 SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UROD UROS VPS33B

More info about this panel

CFTR-Related Disorders Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the CFTR gene.

More info about this panel

Hereditary pancreatitis Panel

Czech Republic.

By DNA Diagnostics Laboratory University Hospital Ostrava Hereditary pancreatitis that also includes the following genes: SPINK1 CFTR PRSS1

More info about this panel

Cystic Fibrosis Panel

India.

By GeneTech ATS GeneTech Private Limited

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis Panel

Canada.

By PROCREA Genetic Laboratory PROCREA/Opmedic Group Inc.

This panel specifically test the CFTR gene.

More info about this panel

Ashkenazi panel (advanced) Panel

Germany.

By Centogene AG - the Rare Disease Company Ashkenazi panel (advanced) that also includes the following genes: BLM CLRN1 MCOLN1 PCDH15 CFTR DLD FANCC G6PC GBA HEXA

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Pancreatitis hereditary CFTR related Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CFTR gene.

More info about this panel

Comprehensive pulmonary disease panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive pulmonary disease panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD

More info about this panel

CFTR Gene Sequencing Panel

United States.

By Michigan Medical Genetics Laboratories University of Michigan

This panel specifically test the CFTR gene.

More info about this panel

CFTR deletion/duplication analysis Panel

United States.

By Michigan Medical Genetics Laboratories University of Michigan

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis Diagnostic Mutation Panel

United States.

By Michigan Medical Genetics Laboratories University of Michigan

This panel specifically test the CFTR gene.

More info about this panel

CFTR-Related Disorders Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the CFTR gene.

More info about this panel

Hereditary Pancreatitis Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum Hereditary Pancreatitis that also includes the following genes: SPINK1 CFTR PRSS1

More info about this panel

Azoospermia Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the CFTR gene.

More info about this panel

Single gene testing CFTR Panel

Germany.

By CeGaT GmbH

This panel specifically test the CFTR gene.

More info about this panel

Cystic fibrosis Panel

India.

By Molecular Diagnostics Division Centre for Cellular and Molecular Biology

This panel specifically test the CFTR gene.

More info about this panel

Cystic fibrosis Panel

India.

By Molecular Diagnostics Division Centre for Cellular and Molecular Biology

This panel specifically test the CFTR gene.

More info about this panel

Cystic fibrosis Panel

India.

By Molecular Diagnostics Division Centre for Cellular and Molecular Biology

This panel specifically test the CFTR gene.

More info about this panel

Test for CFTR-Related Disorders Panel

United Kingdom.

By All Wales Genetics Laboratory Institute of Medical Genetics

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis (CF) Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center

This panel specifically test the CFTR gene.

More info about this panel

CFTR-related disorders Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis Panel

Estonia.

By Asper Biogene Asper Biogene LLC

This panel specifically test the CFTR gene.

More info about this panel

Ashkenazi Jewish diseases Panel

Estonia.

By Asper Biogene Asper Biogene LLC Ashkenazi Jewish diseases that also includes the following genes: BLM BRCA1 BRCA2 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 LRRK2 CFTR

More info about this panel

Male Factor Infertility Panel

Estonia.

By Asper Biogene Asper Biogene LLC Male Factor Infertility that also includes the following genes: TEKT2 XIST USP26 PRDM9 RXFP2 RBMXL2 DDX25 CFTR UTP14C NLRP14

More info about this panel

Cystic Fibrosis Panel

United States.

By Cytogenetics and Molecular Genetics Laboratory Mercy St. Vincent Medical Center

This panel specifically test the CFTR gene.

More info about this panel

Cystic fibrosis, CFTR sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the CFTR gene.

More info about this panel

CFTR-Related Disorders Panel

United States.

By Cytogenetics and Molecular Diagnostics Lab CGC Genetics USA

This panel specifically test the CFTR gene.

More info about this panel

Cystic fibrosis and congenital bilateral aplasia of Vas Deferens (CFTR sequencing) Panel

Belgium.

By Center for Human Genetics Cliniques Universitaires Saint Luc

This panel specifically test the CFTR gene.

More info about this panel

Cystic fibrosis and congenital bilateral aplasia of Vas Deferens (CFTR) Panel

Belgium.

By Center for Human Genetics Cliniques Universitaires Saint Luc

This panel specifically test the CFTR gene.

More info about this panel

Cystic fibrosis Panel

India.

By Department of Laboratory Medicine P.D. Hinduja National Hospital - MRC

This panel specifically test the CFTR gene.

More info about this panel

Congenital bilateral absence of vas deferens Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the CFTR gene.

More info about this panel

CFTR Gene Sequencing Panel

Colombia.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva

This panel specifically test the CFTR gene.

More info about this panel

CFTR p.F508del Mutation Detection Panel

Colombia.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva

This panel specifically test the CFTR gene.

More info about this panel

CFTR Target Mutation Analysis Panel

Colombia.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva

This panel specifically test the CFTR gene.

More info about this panel

CFTR Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the CFTR gene.

More info about this panel

Family Prep Screen Panel

United States.

By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5

More info about this panel

Cystic Fibrosis Carrier Screening Panel

United States.

By BayCare Laboratories, LLC BayCare Health System

This panel specifically test the CFTR gene.

More info about this panel

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

Congenital bilateral absence of vas deferens Panel

Slovakia.

By MedGene

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis Panel

Slovakia.

By MedGene

This panel specifically test the CFTR gene.

More info about this panel

Invitae Cystic Fibrosis Newborn Screening Confirmation Test Panel

United States.

By Invitae

This panel specifically test the CFTR gene.

More info about this panel

Invitae Chronic Pancreatitis Panel Panel

United States.

By Invitae Invitae Chronic Pancreatitis Panel that also includes the following genes: SPINK1 CASR CFTR CTRC PRSS1

More info about this panel

Invitae Metabolic Disorders Newborn Screening Confirmation Panel Panel

United States.

By Invitae Invitae Metabolic Disorders Newborn Screening Confirmation Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SMPD1 BTD SPR SUCLA2 SUCLG1 TAT TAZ

More info about this panel

Invitae Cystic Fibrosis Test Panel

United States.

By Invitae

This panel specifically test the CFTR gene.

More info about this panel

Cystic fibrosis: CFTR gene mutation analysis (?F508) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CFTR gene.

More info about this panel

Cystic fibrosis: CFTR gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CFTR gene.

More info about this panel

Cystic fibrosis: CFTR gene deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CFTR gene.

More info about this panel

Cystic fibrosis: CFTR gene mutations analysis (54 mutations) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CFTR gene.

More info about this panel

HEREDITARY PANCREATITIS Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases HEREDITARY PANCREATITIS that also includes the following genes: SPINK1 CASR CFTR CTRC PRSS1

More info about this panel

CFTR - Gene Sequencing & Del/Dup analysis Panel

Netherlands.

By Genome Diagnostics VU University Medical Center

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis: CFTR Common Mutation Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis: CFTR Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis: CFTR Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the CFTR gene.

More info about this panel

Infertility Panel: Male (Chromosomes, Cystic Fibrosis Common Mutations, Y-Microdeletion) Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the CFTR gene.

More info about this panel

Ciliopathies: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Sequencing Panel that also includes the following genes: RPE65 RPGR ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 TSC1 TSC2 CEP41

More info about this panel

Bronchiectasis: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Bronchiectasis: Sequencing Panel that also includes the following genes: SCNN1A SCNN1B SCNN1G NME8 DNAI2 CFTR DNAAF2 RSPH9 RSPH4A DNAL1

More info about this panel

Pulmonary Disease: Comprehensive Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pulmonary Disease: Comprehensive Sequencing Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPB SFTPC SFTPD STAT3 TERT

More info about this panel

Neonatal and Adult Cholestasis: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neonatal and Adult Cholestasis: Sequencing Panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UGT1A1 VPS33B ABCG5 ABCG8 NPC2

More info about this panel

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6

More info about this panel

Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC

More info about this panel

Cystic Fibrosis: CFTR Expanded Mutation Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the CFTR gene.

More info about this panel

ACOG/ACMG Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics ACOG/ACMG Carrier Screen: Gene Sequencing Panel that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HEXA ELP1 ASPA

More info about this panel

ACOG/ACMG Carrier Screen: Targeted Mutation Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics ACOG/ACMG Carrier Screen: Targeted Mutation Panel that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HEXA ELP1 ASPA

More info about this panel

Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC

More info about this panel

Bronchiectasis: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Bronchiectasis: Deletion/Duplication Panel that also includes the following genes: SCNN1A SCNN1B SCNN1G NME8 DNAI2 CFTR DNAAF2 RSPH9 RSPH4A DNAL1

More info about this panel

Ciliopathies: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Deletion/Duplication Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TSC1 TSC2 TULP1 UMOD USH1C USH2A

More info about this panel

CFTR Intron 8 Poly-T Analysis (non-NY) Panel

United States.

By Quest Diagnostics Nichols Institute Chantilly

This panel specifically test the CFTR gene.

More info about this panel

CFTR Intron 8 Poly-T Analysis (NY) Panel

United States.

By Quest Diagnostics Nichols Institute Chantilly

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis DNA Analysis, Fetus Panel

United States.

By Quest Diagnostics Nichols Institute Chantilly

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis, Screen Panel

United States.

By Quest Diagnostics Nichols Institute Chantilly

This panel specifically test the CFTR gene.

More info about this panel

CFVANTAGE(R) CYSTIC FIBROSIS EXPANDED SCREEN Panel

United States.

By Quest Diagnostics Nichols Institute Chantilly

This panel specifically test the CFTR gene.

More info about this panel

Inheritest NGS, Society Guided Panel Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Society Guided Panel that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC FMR1 GBA HBB HEXA

More info about this panel

Inheritest NGS, Ashkenazi Jewish Ancestry Panel Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Ashkenazi Jewish Ancestry Panel that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR SUMF1 DHDDS

More info about this panel

CF-plus(97 mutation test) Panel

United States.

By Integrated Genetics Westborough Integrated Genetics

This panel specifically test the CFTR gene.

More info about this panel

Poly (T) Testing for CFTR Intron 8 Panel

United States.

By Integrated Genetics Westborough Integrated Genetics

This panel specifically test the CFTR gene.

More info about this panel

CF partial gene sequencing Panel

United States.

By Integrated Genetics Westborough Integrated Genetics

This panel specifically test the CFTR gene.

More info about this panel

Ashkenazi Jewish Carrier Testing Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Ashkenazi Jewish Carrier Testing that also includes the following genes: BLM SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC FKTN

More info about this panel

CF full gene sequencing Panel

United States.

By Integrated Genetics Westborough Integrated Genetics

This panel specifically test the CFTR gene.

More info about this panel

Inheritest NGS, Comprehensive Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3

More info about this panel

Ciliopathies NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Ciliopathies NGS Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TULP1 UMOD USH1C USH2A CLRN1 VHL

More info about this panel

Bronchiectasis NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Bronchiectasis NGS Panel that also includes the following genes: SCNN1A SCNN1B SCNN1G NME8 DNAI2 CFTR DNAAF2 RSPH9 RSPH4A DNAL1

More info about this panel

Lung Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Lung Disorders NGS Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC TERC

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

Chronic Pancreatitis NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Chronic Pancreatitis NGS Panel that also includes the following genes: SPINK1 CASR CFTR CTRC PRSS1

More info about this panel

CFTR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CFTR gene.

More info about this panel

CFTR Intron 8 Poly-T Analysis Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the CFTR gene.

More info about this panel

CFTR Intron 8 Poly-T Analysis (NY) Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis Complete Rare Mutation Analysis, Entire Gene Sequence Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis D1152H Mutation Analysis Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis D1152H Mutation Analysis (NY) Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis DNA Analysis, Fetus (non-NY) Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis Gene Deletion or Duplication Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis Rare Mutation Analysis, One Exon Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis Rare Mutation Analysis, One Exon (NY) Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis Rare Mutation Analysis, Two Exons Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis Screen Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis Screen (NY) Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the CFTR gene.

More info about this panel

CYSTOFIBRON Panel

Hungary.

By PentaCoreLab

This panel specifically test the CFTR gene.

More info about this panel

Primary Ciliary Dyskinesia Panel Panel

Finland.

By Blueprint Genetics Primary Ciliary Dyskinesia Panel that also includes the following genes: RPGR SPAG1 RSPH1 CFAP298 NME8 LRRC6 INVS CENPF CCNO DNAI2

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

Cholestasis Panel Panel

Finland.

By Blueprint Genetics Cholestasis Panel that also includes the following genes: SLC25A13 SMPD1 SPINT2 EPCAM TJP2 UGT1A1 VPS33B NEUROG3 LMF1 NPC2

More info about this panel

Pancreatitis Panel Panel

Finland.

By Blueprint Genetics Pancreatitis Panel that also includes the following genes: SPINK1 UBR1 APOA5 CFTR CPA1 GPIHBP1 CTRC APOC2 PRSS1

More info about this panel

Comprehensive Pulmonology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Pulmonology Panel that also includes the following genes: SCN4A SCNN1A SCNN1B SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC6A5 SLC7A7

More info about this panel

Cystic Fibrosis Panel Panel

Finland.

By Blueprint Genetics

This panel specifically test the CFTR gene.

More info about this panel

Bronchiectasis Panel Panel

Finland.

By Blueprint Genetics Bronchiectasis Panel that also includes the following genes: SCNN1A SCNN1B NME8 DNAI2 CFTR DNAAF2 RSPH9 RSPH4A DNAL1 CCDC39

More info about this panel

Cystic Fibrosis (CFTR) Panel

Iran.

By Genomic Research Center Shahid Beheshti University of Medical Sciences

This panel specifically test the CFTR gene.

More info about this panel

Cystic fibrosis Panel

Spain.

By Bioarray

This panel specifically test the CFTR gene.

More info about this panel

Cystic fibrosis Panel

Spain.

By Bioarray

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis Screening Panel

United States.

By Tulane Hayward Genetics Center Molecular Diagnostics Lab Tulane University

This panel specifically test the CFTR gene.

More info about this panel

Baby Genes Targeted Panel Panel

United States.

By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

More info about this panel

Exome Panel

Brazil.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. Exome that also includes the following genes: RPL10 ATXN1 ATXN2 ATXN8OS SEMA3E GEMIN2 BRAF BRCA1 BRCA2 SOX9

More info about this panel

Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel

Taiwan.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1

More info about this panel

Cystic Fibrosis Carrier Screen Panel

United States.

By Advanced Technology Laboratory Spectrum Health

This panel specifically test the CFTR gene.

More info about this panel

Mutation analysis for Cystic Fibrosis Panel

India.

By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis (CFTR) Panel

Iran.

By Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences

This panel specifically test the CFTR gene.

More info about this panel

CHRONIC PANCREATITIS Panel

Spain.

By Laboratorio de Genetica Clinica SL CHRONIC PANCREATITIS that also includes the following genes: SPINK1 CASR CFTR CTRC PRSS1

More info about this panel

CHRONIC PANCREATITIS: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CHRONIC PANCREATITIS: NGS PANEL that also includes the following genes: SPINK1 CASR CFTR CTRC PRSS1

More info about this panel

CYSTIC FIBROSIS (MUCOVISCIDOSIS) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis, Sequencing CFTR Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis, Mutations CFTR Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis , Deletions-Duplications (MLPA) CFTR Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CFTR gene.

More info about this panel

Hereditary Pancreatitis , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Hereditary Pancreatitis , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: SPINK1 CFTR CTRC PRSS1 PRSS2

More info about this panel

Hereditary pancreatitis Panel

Germany.

By Labor Dr. Wisplinghoff Hereditary pancreatitis that also includes the following genes: SPINK1 CFTR CTRC PRSS1

More info about this panel

Cystic fibrosis Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the CFTR gene.

More info about this panel

Cystic Fibrosis gene sequencing Panel

India.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics

This panel specifically test the CFTR gene.

More info about this panel

planTrue Extended Panel

United States.

By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1

More info about this panel

planTrue ACOG & ACMG Screen Panel

United States.

By True Health Diagnostics planTrue ACOG & ACMG Screen that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HBA1 HBA2 HBB

More info about this panel

planTrue Standard Panel

United States.

By True Health Diagnostics planTrue Standard that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC

More info about this panel

planTrue Basic Panel

United States.

By True Health Diagnostics planTrue Basic that also includes the following genes: SMN1 CFTR DMD

More info about this panel

planTrue Jewish Screen Panel

United States.

By True Health Diagnostics planTrue Jewish Screen that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC

More info about this panel

Phosphorus Male Infertility Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Male Infertility Panel that also includes the following genes: SRY AURKC USP9Y CATSPER1 CFTR DPY19L2 FSHB FSHR AR LHCGR

More info about this panel

Phosphorus Pancreatic Cancer including Chronic Pancreatitis Genes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pancreatic Cancer including Chronic Pancreatitis Genes Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 SPINK1 STK11 EPCAM TP53 TSC1 TSC2 VHL

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel

CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2

More info about this panel

CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

More info about this panel

Cystic Fibrosis: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the CFTR gene.

More info about this panel

Cogenital bilateral absence of the vas deferens (CVAD): Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the CFTR gene.

More info about this panel

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

Neonatal hypertrypsinemia: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the CFTR gene.

More info about this panel

Male infertility genetic testing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Male infertility genetic testing that also includes the following genes: CATSPER1 CFTR FSHR AR LHCGR

More info about this panel

Pancreatitis: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pancreatitis: gene sequencing panel that also includes the following genes: SPINK1 CFTR CTRC PRSS1

More info about this panel

Cystic fibrosis Panel

Hungary.

By Genomic Laboratory Semmelweis University

This panel specifically test the CFTR gene.

More info about this panel

PancreasDx Panel

United States.

By Ariel Precision Medicine PancreasDx that also includes the following genes: SPINK1 SLC26A9 CASR UBR1 CEL CFTR SBDS CLDN2 CTRC GGT1

More info about this panel


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