CHD7

OMIMHGNC

Synonym(s): KIAA1416, FLJ20357, FLJ20361, CRG

Locus: 8q12.2

Protein: Alternative protein CHD7

 

Disorders

Tests

Test Type
Molecular (158)
Cytogenetic (1)
Multi-Gene Panel (106)
Multi-Method Panel (59)
Test Method
Microarray (CGH-Oligo, SNP, BAC) (1)
Del/Dup (CNV) (77)
Methylation Analysis (1)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (38)
Repeat Expansion / Contraction (2)
Sequencing, Next Gen (104)
Prenatal/Carrier
Prenatal (77)
Carrier (84)
Lab Location
USA(96)
Spain(11)
Germany(18)
Portugal(8)
Canada(5)
Finland(10)
Korea, Republic of(1)
Poland(5)
Austria(4)
Estonia(1)
 
TAT: 3-4 weeks
price: contact lab
AutismFirst (Autism Spectrum Disorders)
method(s): ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 2-4 weeks
price: contact lab
CHARGE Syndrome Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 8-10 weeks
price: contact lab
NGS Syndromic Autism Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 6-7 weeks
price: contact lab
CHARGE Syndrome Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 6-7 weeks
price: contact lab
Kallmann Syndrome 5 Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
CHARGE Syndrome Test
method(s): ◦ Sequencing, Capillary (Sanger) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
CHARGE Syndrome Test
method(s): ◦ Del/Dup (CNV) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
Kallmann Syndrome 5 Test
method(s): ◦ Sequencing, Capillary (Sanger) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
Kallmann Syndrome 5 Test
method(s): ◦ Del/Dup (CNV) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
TAT: 5-6 weeks
price: contact lab
Autism Spectrum Disorders Panel Test
method(s): ◦ Sequencing, Next Gen 
ApolloGen, Inc. - Irvine, CA, USA
CHARGE syndrome test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
TAT: 3-4 weeks
price: contact lab
CHARGE SYNDROME CHD7 SEQUENCING
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
CHD7 Deletion/Duplication Analysis
method(s): ◦ Del/Dup (CNV) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
CHD7 Deletion/Duplication Prenatal Analysis
method(s): ◦ Del/Dup (CNV) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
CHARGE Syndrome CHD7 SEQUENCING
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
CHARGE Syndrome, CHD7 Seq and Del/Dup
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
CHARGE Syndrome CHD7 SEQUENCING
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 4-6 weeks
price: contact lab
CHARGE (CHD7 deletion/duplication analysis)
method(s): ◦ Del/Dup (CNV) 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
TAT: 8-10 weeks
price: contact lab
CHARGE (CHD7 sequence and deletion/duplication analysis)
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
TAT: 8-10 weeks
price: contact lab
CHARGE (CHD7 sequence analysis)
method(s): ◦ Sequencing, Capillary (Sanger) 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
TAT: 2-3 weeks
price: contact lab
CHARGE (CHD7 analysis for a known point mutation)
method(s): ◦ Sequencing, Capillary (Sanger) 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
TAT: 4-5 weeks
price: contact lab
CHARGE Syndrome: CHD7 Gene Deletion/Duplication
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 16-20 weeks
price: contact lab
Autism Panel: Tier 2
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 4-5 weeks
price: contact lab
CHARGE Syndrome: CHD7 Gene Sequencing
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 4-6 weeks
price: contact lab
CHARGE Syndrome
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Hospital for Sick Children, Genome Diagnostics Laboratory (formerly Molecular Genetics Laboratory) - Toronto, Canada
TAT: 6-7 weeks
price: contact lab
Sanger sequencing of CHD7 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 4 weeks
price: contact lab
CHD7 sequencing
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4 weeks
price: contact lab
CHD7 deletion/duplication
method(s): ◦ Del/Dup (CNV) 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 8-9 weeks
price: contact lab
Facial Dysostosis Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 5-6 weeks
price: contact lab
CHD7 Gene Sequencing and Del/Dup
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 3-4 weeks
price: contact lab
CHD7 Del/Dup
method(s): ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 9-10 weeks
price: contact lab
CHD7 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: 2-3 weeks
price: contact lab
Prenatal CHD7 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: 10-12 weeks
price: contact lab
Hypogonadotropic Hypogonadism Gene Sequencing and Del/Dup Panel
method(s): ◦ Del/Dup (CNV) ◦ 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
CHARGE syndrome Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Denver Genetics Laboratory at Children's Hospital Colorado - Aurora, CO, USA
CHARGE Syndrome, Massive Sequencing (NGS) CHD7 Gene
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Autism Spectrum Disorder Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
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
Hearing Loss Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Kallmann Syndrome, Panel Massive Sequencing (NGS) 20 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Comprehensive Panel: Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
CHARGE syndrome (sequence analysis of CHD7 gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Candidate gene sequencing
method(s): ◦ Sequencing, Next Gen 
University of Michigan, Donna M. Martin Laboratory - Ann Arbor, MI, USA
CHARGE Syndrome, Deletions-Duplications (MLPA) CHD7 Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Kallmann Syndrome
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Kallmann Syndrome Type 5: CHD7 gene sequence analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 4-6 weeks
price: contact lab
Facial Dysostosis Deletion/Duplication panel
method(s): ◦ Del/Dup (CNV) 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 3-5 weeks
price: contact lab
Microphthalmia-Anophthalmia-Coloboma Complex (MAC)
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Polymicrogyria
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Brain Malformations / Neuronal Migration Disorders
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks
price: contact lab
Syndromic Hearing Loss Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Microphthalmia Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Congenital Heart Defects Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Kallmann Syndrome Type 5, Sequencing CHD7 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
TAT: 7-10 days
price: contact lab
NewbornDx HL
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
Syndromic deafness (NGS panel of 62 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Syndromic and non syndromic deafness (NGS panel of 127 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
Single gene testing CHD7
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
Endocrine Disorders: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Endocrine Disorders: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
CHARGE Syndrome: CHD7 Gene Deletion/Duplication
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
CHARGE Syndrome: CHD7 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 8-9 weeks
price: contact lab
Microphthalmia (NGS panel for 26 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 4 weeks
price: contact lab
CHARGE syndrome (deletion/duplication analysis of CHD7 gene)
method(s): ◦ Del/Dup (CNV) 
CGC Genetics - Porto, Portugal
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
CHARGE Syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Cohesion Phenomics, LLC - Spindale, NC, USA
CHARGE Syndrome (CHD7) Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
CHARGE Syndrome (CHD7) Sequencing, Fetal
method(s): ◦ Sequencing, Capillary (Sanger) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Familial Congenital Heart Disease Full Gene Sequencing Panel (CardioGeneSeq)
method(s): ◦ Sequencing, Next Gen 
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA
TAT: 8-9 weeks
price: contact lab
Hypogonadotropic Hypogonadism Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 2-3 weeks
price: contact lab
CHARGE Syndrome
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
CHARGE Syndrome
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
CHARGE Syndrome
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 8-9 weeks
price: contact lab
Abnormal/Ambiguous Genitalia Sequencing Test
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4-6 weeks
price: contact lab
AutismNext (Autism Spectrum Disorders)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 8-10 weeks
price: contact lab
Neurodevelopment -Expanded
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 5-7 weeks
price: contact lab
IDNext - Intellectual Disability Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 2-4 weeks
price: contact lab
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
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: 4 weeks
price: contact lab
CHD7 Deletion/duplication analysis
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4-6 weeks
price: contact lab
CHD7 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4-6 Weeks
price: contact lab
Autism 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
CHD7
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Hypogonadotropic Hypogonadism (HH) and Related Disorders NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Intellectual Disability NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Kallmann Syndrome NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-3 weeks
price: contact lab
Congenital heart disease NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: contact lab
Congenital heart disease NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: contact lab
Congenital heart disease NGS panel Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
CID with associated or syndromic features - Thymic defects (NGS panel for 4 genes and deletion of 22q11.2 by MLPA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 7-10 days
price: contact lab
CHARGE Syndrome: CHD7 gene
method(s): ◦ Sequencing, Capillary (Sanger) 
GenoMed-Diagnosticos de Medicina Molecular, SA - Lisboa, Portugal
TAT: 1-2 weeks
price: $560.00
KaryoNIM 180K Autism
method(s): ◦ Microarray (CGH-Oligo, SNP, BAC) 
NIMGenetics Genomics & Medicine. (New Integrated Medical Genetics). - Madrid, Spain
TAT: 3-4 weeks
price: $690.00
CHARGE and Kallmann Syndromes via the CHD7 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $840.00
Kallmann Syndrome (KS) Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $990.00
CHARGE and Kallmann Syndromes via the CHD7 Gene
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,440.00
CHARGE and Kallmann Syndromes Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $690.00
Kallmann Syndrome (KS) Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 10-12 weeks
price: $1,290.00
ExoNIM Autism Spectrum Disorders
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
NIMGenetics Genomics & Medicine. (New Integrated Medical Genetics). - Madrid, Spain
TAT: 3-4 weeks
price: $730.00
CHARGE and Kallmann Syndromes Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Coloboma (Kolobom)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Autism (Autismus)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
CHARGE syndrome (CHARGE Syndrom)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: ~2 weeks
price: contact lab
CHARGE syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
Kallmann syndrome/ Hypogonadotropic hypogonadism (Kallmann Syndrom)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 11-12 weeks
price: contact lab
Microphthalmia NGS panel
method(s): ◦ Sequencing, Next Gen 
IBMC-Institute for Cell and Molecular Biology, CGPP - Center for Predictive and Preventive Genetics - Porto, Portugal
Facial Dysostosis Related Disorders, Panel Massive Sequencing (NGS) 10 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
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
PreSeek Non-invasive Prenatal Gene Sequencing Screen
method(s): ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: ~2 weeks
price: contact lab
Kallmann syndrome
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
Autism Spectrum Disorders (Expanded Panel), Panel Massive Sequencing (NGS) 100 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4 weeks
price: contact lab
Hypoparathyroidism Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis
method(s): ◦ Sequencing, Next Gen 
Asper Biogene LLC - Tartu, Estonia
TAT: 2-3 weeks
price: contact lab
CentoICU Platinum
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-5 weeks
price: $2,240.00
Disorders of Sex Development and Infertility Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,670.00
Disorders of Sex Development and Infertility Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,990.00
Disorders of Sex Development Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,670.00
Disorders of Sex Development 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: $1,990.00
Female Infertility Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,670.00
Female Infertility Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $2,190.00
Male Infertility Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,670.00
Male Infertility Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 6-8 weeks
price: contact lab
Kallmann Syndrome Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, 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 CHARGE Syndrome Test
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 Syndromic Combined Immunodeficiency (CID) Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Isolated Gonadotropin-Releasing Hormone Deficiency Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 7-8 weeks
price: contact lab
Microphthalmia/anophthalmia/coloboma spectrum panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-4 weeks
price: contact lab
Microcephaly (NextGen Sequencing Panel and Copy Number Analysis; 241 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-5 weeks
price: contact lab
Syndromic autism panel
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks
price: contact lab
Abnormal Genitalia/ Disorders of Sex Development Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Hearing Loss and Deafness Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Skeletal / Malformation Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Gastrointestinal Atresia Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Kabuki Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Kallmann Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Neuronal Migration Disorder Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Polymicrogyria 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
Abnormal Genitalia/ Disorders of Sex Development 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 Hearing Loss and Deafness 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 Skeletal / Malformation Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Gastrointestinal Atresia Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Kabuki Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Kallmann Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Neuronal Migration Disorder Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Polymicrogyria 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: 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: $2,290.00
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related 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: $1,290.00
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4 weeks
price: contact lab
Kallmann Syndrome NGS Panel
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
TAT: 4 weeks
price: contact lab
CHD7 Gene Sequencing
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
Mental Retardation - different panels
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Cologne University, Institute of Human Genetics - Cologne, Germany