NKX2-1

OMIMHGNC

Synonym(s): TTF-1, TTF1, NKX2A, BCH, TITF1

Locus: 14q13.3

Protein: Homeobox protein Nkx-2.1

 

Disorders

Tests

Test Type
Molecular (164)
Multi-Gene Panel (117)
Multi-Method Panel (77)
Test Method
Del/Dup (CNV) (85)
Methylation Analysis (2)
Mutation Scanning of Entire Coding Region (2)
Sequencing, Capillary (Sanger) (49)
Repeat Expansion / Contraction (3)
Sequencing, Next Gen (112)
Prenatal/Carrier
Prenatal (83)
Carrier (93)
Lab Location
Spain(11)
USA(108)
Netherlands(2)
Portugal(6)
Germany(13)
Poland(3)
Canada(10)
Austria(2)
Finland(7)
United Kingdom(2)
 
TAT: 4-8 weeks
price: $635.00
Analysis NKX2-1 gene (Choreoathetosis, hypothyroidism, and neonatal respiratory distress)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
Atrial Septal Defect with Atrioventricular Condutcion Defects Test (the NKX2-5 gene - entire)
method(s):
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
TAT: 2-3 weeks
price: contact lab
NKX2.1 Related Disorders Test
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA
TAT: 3-4 weeks
price: contact lab
Isolated Nonsyndromic Congenital Heart Disease: NKX2-5 Gene Sequencing
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 4-5 weeks
price: contact lab
Isolated Nonsyndromic Congenital Heart Disease: NKX2-5 Gene Deletion/Duplication
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 12-13 weeks
price: contact lab
Cardiomyopathy: Sequencing and Deletion/Duplication Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 8-9 weeks
price: contact lab
Ciliopathies: Sequencing and Deletion/Duplication Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 12-13 weeks
price: contact lab
Arrhythmias: Sequencing Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 4-6 weeks
price: $3,807.00
Idiopathic Pulmonary Fibrosis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: contact lab
price: $3,250.00
Neonatal Respiratory Distress Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: contact lab
price: $3,528.00
Pulmonary Alveolar Proteinosis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: contact lab
price: $3,252.00
Childhood Intersitial Lung Disease Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: contact lab
price: $882.00
Benign Hereditary Chorea
method(s): ◦ Sequencing, Capillary (Sanger) 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: contact lab
price: $882.00
Choreoathetosis, Hypothyroidism, Neonatal Respiratory Distress (Brain-Lung-Thyroid Disease)
method(s): ◦ Sequencing, Capillary (Sanger) 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: 7-8 weeks
price: contact lab
NGS of 19 genes: ACTC1, BMPR2, CFC1, ELN, G6PC3, GATA4, GATA6, GDF1, GJA1, HCN4, JAG1, MYH6, NKX2-3, NKX2-5, NKX2-6, RBM10, TBX1, TBX20, TLL1
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 17 genes: DES, EMD, GAA, GLA, HCN1, HCN4, KCNA5, KCNQ1, LAMP2, LMNA, MYH6, NKX2-5, PRKAG2, SCN5A, SCN1B, SCN4B, TRPM4
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 8-10 weeks
price: contact lab
Ataxia Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 8-9 weeks
price: contact lab
Neonatal Diabetes/MODY Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4 weeks
price: contact lab
Neonatal Diabetes Mellitus (NDM) Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4 weeks
price: contact lab
NKX2.5 sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4 weeks
price: contact lab
NKX2.5 deletion/duplication
method(s): ◦ Del/Dup (CNV) 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 8-9 weeks
price: contact lab
Heterotaxy Panel
method(s): ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 10-12 weeks
price: contact lab
Comprehensive Arrhythmia Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 4-6 weeks
price: contact lab
Congenital Heart Defects (7 Gene) Panel
method(s): ◦ Sequencing, Next Gen 
All Children's Hospital, Johns Hopkins Medicine, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
Benign Hereditary Chorea , Sequencing NKX2-1 (TITF1) Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4 weeks
price: contact lab
Comprehensive Neonatal Diabetes Mutation Analysis
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Cardiac Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Choreoathetosis and congenital hypothyroidism (sequence analysis of NKX2-1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Benign hereditary chorea (sequence analysis of NKX2-1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 4-8 weeks
price: $330.00
Analysis NKX2-5 gene (Congenital Heart Defects)
method(s): ◦ Sequencing, Capillary (Sanger) 
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
TAT: 2-3 weeks
price: contact lab
Benign Hereditary Chorea
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA
TAT: 4-5 weeks
price: contact lab
CardioNext -Inherited Cadiovascular Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 4-5 weeks
price: contact lab
RhythmNext
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 6-8 weeks
price: contact lab
DCMNext - Dilated Cardiomyopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 4-5 weeks
price: contact lab
CMNext - Cardiomyopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
Congenital Hypothyroidism, Sequencing TITF1 (NKX2-1) Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, 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
Basic Fibrosis Panel (12 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
Pulmonary Fibrosis-Hermansky-Pudlak Panel (21 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - Cambridge, MA, USA
TAT: 4-6 weeks
price: contact lab
Congenital Heart Defects Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Choreatic Movement Disorders Panel
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Ataxia and Differential Diagnoses Panel
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 5-7 weeks
price: $4,634.00
Diffuse Lung Disease Comprehensive NGS Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
TAT: 4-6 weeks
price: contact lab
Somatic Tumor Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Congenital Hypothyroidism, Panel Massive Sequencing 22 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Benign hereditary chorea (deletion/duplication analysis of NKX2-1 gene)
method(s): ◦ Del/Dup (CNV) 
CGC Genetics - Porto, Portugal
Atrial septal defect 7, with or without AV conduction defects (sequence analysis of NKX2-5 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
MODY NKX2-2 related (sequence analysis of NKX2-2 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
Single gene testing NKX2-1
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
TAT: 2-4 weeks
price: contact lab
Single gene testing NKX2-5
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
Interstitial Lung Disease: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Isolated Nonsyndromic Congenital Heart Disease: NKX2-5 Gene Deletion/Duplication
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Isolated Nonsyndromic Congenital Heart Disease: NKX2-5 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Benign Hereditary Chorea, Deletions-Duplications (MLPA) NKX2-1 (TITF1) Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Arrhythmias: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Arrhythmias: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
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
Comprehensive Cardiovascular: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Comprehensive Cardiovascular: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Cardiovascular 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: 4-6 weeks
price: contact lab
Congenital Hypothyroidism, Nongoitrous, NGS Panel
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
Familial Congenital Heart Disease Full Gene Sequencing Panel (CardioGeneSeq)
method(s): ◦ Sequencing, Next Gen 
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA
TAT: 4-6 weeks
price: contact lab
Familial Atrial Septal Defect, Isolated, Non-Syndromic NGS Panel
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
Pulmonary Disease: Comprehensive Sequencing Extended Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Familial Thyroid Dyshormonogenesis , Deletions-Duplications (MLPA) (TPO, PAX8, FOXE1, NKX2-1, TSHR) Genes
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-4 weeks
price: contact lab
NKX2-5 Full Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 8-10 weeks
price: contact lab
Atrioventricular (AV) Block Panel
method(s): ◦ Sequencing, Next Gen 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 8-10 weeks
price: contact lab
Heterotaxy V2 Panel
method(s): ◦ Sequencing, Next Gen 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 11-12 weeks
price: contact lab
NKX2-1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 2-4 weeks
price: contact lab
Congenital Heart Defects (NextGen Sequencing Panel and Copy Number Analysis; 77 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Heterotaxy Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 7 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Comprehensive Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 733 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Syndromic Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 577 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-3 weeks
price: contact lab
Arrhythmogenic Right Ventricular Cardiomyopathy NGS Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
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
Heterotaxy and Situs Inversus 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
NKX2-1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
NKX2-3
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
NKX2-5
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
NKX2-6
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-3 weeks
price: contact lab
Pan-Cardio NGS Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-3 weeks
price: $1,150.00
Congenital heart disease NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $1,500.00
Congenital heart disease NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $2,500.00
Congenital heart disease NGS panel Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4-8 weeks
price: contact lab
Chorea, Benign Hereditary, NKX2-1 gene
method(s): ◦ Sequencing, Capillary (Sanger) 
GenoMed-Diagnosticos de Medicina Molecular, SA - Lisboa, Portugal
TAT: 1-2 weeks
price: $490.00
NKX2-5 related heart malformations
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $680.00
NKX2-5 related heart malformations
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,070.00
NKX2-5 related heart malformations
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4-6 weeks
price: $3,000.00
Comprehensive Cardiomyopathy Cardiac Arrhythmia Exome Panel
method(s): ◦ Sequencing, Next Gen 
UW Medicine Center for Precision Diagnostics Northwest Clinical Genomics Laboratory - Seattle, WA, USA
TAT: 4-6 weeks
price: $2,500.00
Cardiac Arrhythmia Exome Panel
method(s): ◦ Sequencing, Next Gen 
UW Medicine Center for Precision Diagnostics Northwest Clinical Genomics Laboratory - Seattle, WA, USA
TAT: 3-4 weeks
price: $690.00
Congenital Hypothyroidism (Thyroid Dysgenesis) via the NKX2-1/TTF1 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $690.00
Isolated Nonsyndromic Congenital Heart Defects via the NKX2-5 Gene
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: $1,670.00
Comprehensive Cardiac Arrhythmia 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
Congenital Hypothyroidism and Thyroid Hormone Resistance 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
Dilated Cardiomyopathy 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
Heterotaxy, Situs Inversus and Kartagener's Syndrome Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $680.00
Congenital Hypothyroidism (Thyroid Dysgenesis) via the NKX2-1/TTF1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $490.00
Isolated Nonsyndromic Congenital Heart Defects via the NKX2-5 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
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: $2,390.00
Comprehensive Cardiac Arrhythmia Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,940.00
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,890.00
Dilated Cardiomyopathy Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $2,140.00
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4-6 weeks
price: contact lab
NKX2-5 Gene Sequencing
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
Conotruncal Heart Malformations Related Disorders, Panel Massive Sequencing (NGS) 5 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-5 weeks
price: contact lab
CustomNext-Cardio
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
Cardiac defect, developmental (Herzentwicklungsstörungen)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Huntington disease (Chorea Huntington/ like)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 8-10 weeks
price: contact lab
Sudden cardiac arrest panel
method(s): ◦ Sequencing, Next Gen 
Sherbrooke Genomic Medicine - Sherbrooke, Canada
TAT: ~2 weeks
price: contact lab
Maturity-onset diabetes of the young, NKX2-2 related
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-4 weeks
price: contact lab
Hypothyroidism (NextGen Sequencing Panel and Copy Number Analysis; 6 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-3 weeks
price: contact lab
Congenital Heart Disease NGS Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: ~2 weeks
price: contact lab
Chorea, hereditary benign
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Atrial septal defect with atrioventricular conduction defects
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
Cardiac Conduction System Related Disorders, Panel Massive Sequencing (NGS) 21 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4 weeks
price: contact lab
Congenital Hypothyroidism Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 2-3 weeks
price: contact lab
CentoICU Platinum
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 6-8 weeks
price: contact lab
Dystonia Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 3-4 weeks
price: contact lab
Phosphorus Dilated Cardiomyopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Phosphorus Diagnostics - Secaucus, NJ, USA
TAT: 3-4 weeks
price: contact lab
Phosphorus Pan Cardiomyopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Phosphorus Diagnostics - Secaucus, NJ, USA
Phosphorus Pan Arrhythmia and Cardiomyopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Phosphorus Diagnostics - Secaucus, NJ, USA
TAT: 7-8 weeks
price: contact lab
Congenital heart defects panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
Congenital Hypothyroidism, Sequencing NKX2-5 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 16-20 weeks
price: contact lab
General Inherited Arrhythmias - 38 gene NGS panel
method(s): ◦ Sequencing, Next Gen 
Clinical Genetics & Genomics Laboratory - London, United Kingdom
TAT: 16-20 weeks
price: contact lab
Familial Atrial Fibrillation (AF) - 21 gene NGS panel
method(s): ◦ Sequencing, Next Gen 
Clinical Genetics & Genomics Laboratory - London, United Kingdom
TAT: 4-5 weeks
price: contact lab
Heterotaxy 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 Arrhythmia Comprehensive Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Dilated Cardiomyopathy Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Congenital Heart Defects and Heterotaxy Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Congenital Heart Disease Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Cardiomyopathy Comprehensive Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 4-5 weeks
price: contact lab
MODY panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-5 weeks
price: $2,400.00
Comprehensive Cardiology Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: contact lab
Comprehensive Cardiology 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: $1,490.00
Pulmonary Fibrosis and Surfactant Dysfunction Disorders Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $840.00
Pulmonary Fibrosis and Surfactant Dysfunction Disorders 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: contact lab
Arrhythmia Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Cardiology Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Hypothyroidism and Resistance to Thyroid Hormone Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Interstitial Lung Disease Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Neonatal Respiratory Distress - Surfactant Dysfunction 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
Congenital Structural Heart Disease Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Arrhythmia 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 Cardiology Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Hypothyroidism and Resistance to Thyroid Hormone Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Interstitial Lung Disease Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Neonatal Respiratory Distress - Surfactant Dysfunction 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
Congenital Structural Heart Disease Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 8-10 weeks
price: contact lab
Comprehensive Cardiac Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 3-5 weeks
price: $1,980.00
Pan Cardiomyopathy 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
Pan Cardiomyopathy Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-4 weeks
price: contact lab
Comprehensive Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 733 Genes + Fragile X Repeat Expansion and Methylation)
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 3-5 weeks
price: $1,770.00
Interstitial Lung Disease Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,290.00
Interstitial Lung Disease Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 8-10 weeks
price: contact lab
Comprehensive Pulmonary Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 8-10 weeks
price: contact lab
Hermansky-Pudlak Syndrome and Pulmonary Fibrosis Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 8-10 weeks
price: contact lab
Surfactant Dysfunction and Respiratory Distress in Premature Infants Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
Pulmonary Surfactant Metabolism Dysfunction and Related Disorders, Panel Massive Sequencing (NGS) 7 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain