Charge Syndrome

Description

CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).

Clinical Features

Top most frequent phenotypes and symptoms related to Charge Syndrome

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Pica
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Growth delay
  • Nystagmus
And another 159 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available Charge Syndrome have a estimated birth prevalence of 6.5 per 100k in Europe.


Mendelian

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Charge Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CHD7 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CHD7
Specificity
100 %
Genes
50 %
CHD7 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CHD7
Specificity
100 %
Genes
50 %
CHD7 Deletion/Duplication Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

CHD7
Specificity
100 %
Genes
50 %
CHD7 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CHD7
Specificity
100 %
Genes
50 %
CHD7 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

CHD7
Specificity
100 %
Genes
50 %
CHD7 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

CHD7
Specificity
100 %
Genes
50 %
PreSeek Non-invasive Prenatal Gene Sequencing Screen.

By Baylor Miraca Genetics Laboratories in United States.

COL1A1, COL1A2, JAG1, RAF1, MECP2, FGFR3, BRAF, CDKL5, CHD7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, FGFR2, SOS2, HDAC8, RIT1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
50 %
CHD7 DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

CHD7
Specificity
100 %
Genes
50 %
Complete Kallmann/IHH Evaluation.

By Athena Diagnostics Inc in United States.

CHD7, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1
Specificity
10 %
Genes
50 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

ABHD12, USH1G, USH1C, ANKH, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 151 more genes
Specificity
2 %
Genes
100 %
Syndromic Autism Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, STXBP1, TUBA1A, AMT, SLC9A6, ALDH5A1, TMLHE, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, MEF2C , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
50 %
CHD7-related disorders.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

CHD7
Specificity
100 %
Genes
50 %
Charge Syndrome.

By Center for Human Genetics, Inc in United States.

CHD7
Specificity
100 %
Genes
50 %
Kallmann syndrome 5.

By Center for Human Genetics, Inc in United States.

CHD7
Specificity
100 %
Genes
50 %
CHARGE Syndrome - Sanger/Del dup.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

CHD7
Specificity
100 %
Genes
50 %
Test for CHARGE Syndrome.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

CHD7
Specificity
100 %
Genes
50 %
Test for Kallmann Syndrome 5.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

CHD7
Specificity
100 %
Genes
50 %
Autsim Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
50 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ABHD12, USH1G, USH1C, ANKH, BTD, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, FOXC1, PITX2, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN , (...)

View the complete list with 102 more genes
Specificity
2 %
Genes
100 %
CHARGE syndrome.

By Genetics Laboratory University of Oklahoma Health Sciences Center in United States.

CHD7
Specificity
100 %
Genes
50 %
CHD7 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CHD7
Specificity
100 %
Genes
50 %
CHD7 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

CHD7
Specificity
100 %
Genes
50 %
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

STAR, WT1, MKKS, CYP11B1, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, MKS1, CYP17A1, AR, ARX, CHD7, CREBBP, DHCR7, PTPN11, SRY, CDKN1C, FIG4 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
50 %
CHD7 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

CHD7
Specificity
100 %
Genes
50 %
Hypogonadotropic Hypogonadism Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

CHD7, NR0B1, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, IL17RD, NSMF, FEZF1, LHB, FSHB, FGF17, WDR11, TAC3
Specificity
6 %
Genes
50 %
Kallmann Syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

CHD7, GNRH1, FGFR1, TACR3, KISS1R, PROKR2, PROK2, FGF8, ANOS1, IL17RD, NSMF, FEZF1, LHB, FGF17, WDR11, TAC3, KISS1
Specificity
6 %
Genes
50 %
Hypogonadotropic Hypogonadism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

CHD7, NR0B1, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, IL17RD, NSMF, FEZF1, LHB, FSHB, FGF17, WDR11, TAC3
Specificity
6 %
Genes
50 %
Hypoparathyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

HADHA, CYP24A1, HADHB, AIRE, CHD7, PRKAR1A, CASR, TBX1, GATA3, GNAS, GNA11, PDE4D, STX16, PTH, GCM2, FAM111A, TBCE
Specificity
6 %
Genes
50 %
Facial Dysostosis Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

DHODH, CHD7, PRKAR1A, POLR1C, TCOF1, POLR1D, ALX4, EFNB1, EFTUD2, EVC, EVC2, MYCN, ALX1, PDE4D, ALX3, ZSWIM6, SF3B4
Specificity
6 %
Genes
50 %
OtoGenome Test for Hearing Loss (110 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, DIABLO, MSRB3, KARS, MYO7A , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
50 %
CHARGE Syndrome (CHD7) Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

CHD7
Specificity
100 %
Genes
50 %
CHARGE Syndrome (CHD7) Sequencing, Fetal.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

CHD7
Specificity
100 %
Genes
50 %
CHD7 Gene Sequencing.

By GeneDx in United States.

CHD7
Specificity
100 %
Genes
50 %
Prenatal CHD7 Gene Sequencing.

By GeneDx in United States.

CHD7
Specificity
100 %
Genes
50 %
Autism/Intellectual Disability/Multiple Anomalies.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MKKS, RAF1, MECP2, TUBA1A, SLC9A6, FGFR3, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, HRAS , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
50 %
AutismNext.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, MECP2, SLC9A6, SLC6A8, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, MEF2C, PCDH19, RAI1, HDAC8, TSC2, RAD21, SYNGAP1, SMC3, SMC1A , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %
CHD7 gene sequence and deletion/duplication.

By Ambry Genetics in United States.

CHD7
Specificity
100 %
Genes
50 %
CustomNext: Neuro.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
50 %
Neurodevelopment-Expanded.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
50 %
IDNext.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, MECP2, GAMT, GATM, TUSC3, SLC25A22, OTC, PDHA1, TIMM8A, MAOA, ACSL4, SLC9A6, ABCD1 , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
50 %
CHD7. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CHD7
Specificity
100 %
Genes
50 %
CHD7. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CHD7
Specificity
100 %
Genes
50 %
CHARGE Syndrome - CHD7 Sequence and Del/Dup Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

CHD7
Specificity
100 %
Genes
50 %
CHARGE Syndrome - CHD7 Sequence Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

CHD7
Specificity
100 %
Genes
50 %
CHARGE Syndrome - CHD7 Deletion/Duplication Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

CHD7
Specificity
100 %
Genes
50 %
CHARGE Syndrome - CHD7 Known Point Mutation Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

CHD7
Specificity
100 %
Genes
50 %
CHD7 Del/Dup.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

CHD7
Specificity
100 %
Genes
50 %
CHD7 SEQ + Del/Dup.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

CHD7
Specificity
100 %
Genes
50 %
CHD7 Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

CHD7
Specificity
100 %
Genes
50 %
Craniofacial Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
Severe combined immunodeficiency Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ADA, IL2RG, PNP, CHD7, IKBKG, ATM, DCLRE1C, WAS, TBX1, DOCK8, JAK3, IL7R, RAG2, RAG1, NHEJ1, LIG4, FOXN1, PRKDC
Specificity
6 %
Genes
50 %
Craniofacial Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
Severe combined immunodeficency Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ADA, IL2RG, PNP, CHD7, IKBKG, ATM, DCLRE1C, WAS, TBX1, DOCK8, JAK3, IL7R, RAG2, RAG1, NHEJ1, LIG4, FOXN1, PRKDC
Specificity
6 %
Genes
50 %
Craniofacial Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
Severe combined immunodeficiency Del/dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ADA, IL2RG, PNP, CHD7, IKBKG, ATM, DCLRE1C, WAS, TBX1, DOCK8, JAK3, IL7R, RAG2, RAG1, NHEJ1, LIG4, FOXN1, PRKDC
Specificity
6 %
Genes
50 %
CHARGE Syndrome (sequence analysis of CHD7 gene).

By CGC Genetics in Portugal.

CHD7
Specificity
100 %
Genes
50 %
Syndromic deafness (NGS panel for 62 genes).

By CGC Genetics in Portugal.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...)

View the complete list with 42 more genes
Specificity
4 %
Genes
100 %
Syndromic and non syndromic deafness (NGS panel for 127 genes).

By CGC Genetics in Portugal.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, EYA4, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3 , (...)

View the complete list with 107 more genes
Specificity
2 %
Genes
100 %
Microphthalmia (NGS panel for 26 genes).

By CGC Genetics in Portugal.

RAX, ABCB6, MFRP, OTX2, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, CHD7, NAA10, MITF, GDF6, RARB, VAX1, FREM1, VSX2, BMP4, GDF3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
CHARGE syndrome (deletion/duplication analysis of CHD7 gene).

By CGC Genetics in Portugal.

CHD7
Specificity
100 %
Genes
50 %
Hypogonadism hypogonadotropic (NGS panel of 26 genes).

By CGC Genetics in Portugal.

HESX1, CHD7, NR0B1, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, IL17RD, SEMA3A, NSMF, FEZF1, LHB, FSHB, FGF17, WDR11 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Hypogonadism hypogonadotropic (NGS panel of 26 genes).

By CGC Genetics in Portugal.

HESX1, CHD7, NR0B1, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, IL17RD, SEMA3A, NSMF, FEZF1, LHB, FSHB, FGF17, WDR11 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
CHARGE SYNDROME.

By Centre de Genetique Humaine Institut de Pathologie et de Genetique in Belgium.

CHD7
Specificity
100 %
Genes
50 %
CHARGE and Kallmann Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD7, ANOS1, SEMA3E
Specificity
67 %
Genes
100 %
CHARGE and Kallmann Syndromes via the CHD7 Gene.

By PreventionGenetics PreventionGenetics in United States.

CHD7
Specificity
100 %
Genes
50 %
Kallmann Syndrome (KS) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD7, FGFR1, TACR3, GNRHR, PROKR2, PROK2, FGF8, ANOS1, SOX10, IL17RD
Specificity
10 %
Genes
50 %
Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SOX2, HESX1, CHD7, LEP, LEPR, PCSK1, PROP1, NR0B1, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, SOX10, SEMA3E, SOX3 , (...)

View the complete list with 17 more genes
Specificity
6 %
Genes
100 %
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Discorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD7, CREBBP, HDAC8, RAD21, SMC3, SMC1A, NIPBL, ANKRD11, PHF6, MED12, ARID1B, TAF1, NOTCH1, SMARCE1, SOX11, KMT2A, SMARCA4, SMARCB1, ARID1A, EP300 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, GALT, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1 , (...)

View the complete list with 83 more genes
Specificity
2 %
Genes
100 %
Male Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1 , (...)

View the complete list with 86 more genes
Specificity
2 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, GALT, BBS7 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, BBS7, BBS5 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
50 %
Autism Spectrum Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FMR1, UBE3A, PTEN, ADSL, MFRP, NDP, MECP2, GAMT, GATM, STXBP1, MAOA, SLC9A6, SGSH, ARX, BRAF, CDKL5, CHD7, DHCR7, FOXG1, KRAS , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
50 %
Congenital heart disease Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ELN, JAG1, CHD7, TBX1, NOTCH1, NKX2-5, TBX5, GDF1, GATA4, GATA6, NOTCH2, TBX20, TAB2, NR2F2, NKX2-6
Specificity
7 %
Genes
50 %
Congenital heart disease Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ELN, JAG1, CHD7, TBX1, NOTCH1, NKX2-5, TBX5, GDF1, GATA4, GATA6, NOTCH2, TBX20, TAB2, NR2F2, NKX2-6
Specificity
7 %
Genes
50 %
Congenital heart disease NGS panel.

By Connective Tissue Gene Tests in United States.

ELN, JAG1, CHD7, TBX1, NOTCH1, NKX2-5, TBX5, GDF1, GATA4, GATA6, NOTCH2, TBX20, TAB2, NR2F2, NKX2-6
Specificity
7 %
Genes
50 %
CHARGE syndrome Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

CHD7
Specificity
100 %
Genes
50 %
CHARGE syndrome Comprehensive Test.

By Connective Tissue Gene Tests in United States.

CHD7
Specificity
100 %
Genes
50 %
CHARGE syndrome.

By Connective Tissue Gene Tests in United States.

CHD7
Specificity
100 %
Genes
50 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
50 %
Heart Diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, GAA, ELN, CPT2, GNE, JAG1, DSP, CRYAB, RAF1, VCP, FBN1, MTO1, AGK, TMEM70 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
50 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
1 %
Genes
50 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
50 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
50 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
50 %
Polymicrogyria.

By MGZ Medical Genetics Center in Germany.

TUBB3, FH, TUBA1A, CHD7, WDR62, NDE1, TUBA8, ADGRG1, SRPX2, TUBB2B, KIF1BP, NSDHL, GPSM2, EOMES, OCLN, TUBB, KIF5C
Specificity
6 %
Genes
50 %
Microphthalmia-Anophthalmia-Coloboma Complex (MAC).

By MGZ Medical Genetics Center in Germany.

FOXL2, RAX, ABCB6, OCRL, MFRP, NDP, OTX2, CYP1B1, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7, RAB3GAP1, SIX3, VPS13B , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %
CHARGE Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

CHD7
Specificity
100 %
Genes
50 %
CHARGE syndrome.

By Centogene AG - the Rare Disease Company in Germany.

CHD7
Specificity
100 %
Genes
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
50 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
50 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
50 %
Kallmann syndrome.

By Centogene AG - the Rare Disease Company in Germany.

CHD7
Specificity
100 %
Genes
50 %
CHD7 full gene sequencing.

By Michigan Medical Genetics Laboratories University of Michigan in United States.

CHD7
Specificity
100 %
Genes
50 %
CHARGE Syndrome.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

CHD7
Specificity
100 %
Genes
50 %
Kallmann syndrome.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

CHD7, FGFR1, PROKR2, PROK2, FGF8, ANOS1
Specificity
17 %
Genes
50 %
Syndromic Hearing Loss Panel.

By CeGaT GmbH in Germany.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...)

View the complete list with 42 more genes
Specificity
4 %
Genes
100 %
Congenital Heart Defects Panel.

By CeGaT GmbH in Germany.

ELN, FOXC1, PITX2, JAG1, CHD7, MYH7, FLNA, TBX1, SEMA3E, RBM10, NODAL, FOXH1, NOTCH1, ACTC1, NKX2-5, MYH6, TBX5, GJA1, SMAD2, ZIC3 , (...)

View the complete list with 24 more genes
Specificity
5 %
Genes
100 %
Microphthalmy Panel.

By CeGaT GmbH in Germany.

RAX, ABCB6, MFRP, OTX2, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, CHD7, NAA10, GDF6, RBP4, RARB, VAX1, FREM1, VSX2, BMP4, GDF3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Single gene testing CHD7.

By CeGaT GmbH in Germany.

CHD7
Specificity
100 %
Genes
50 %
Combined immunodeficiencies Panel.

By CeGaT GmbH in Germany.

TAP1, AK2, ADA, IL2RG, PNP, CHD7, RMRP, DCLRE1C, TBX1, SEMA3E, MAGT1, UNC119, DOCK8, JAK3, THBD, STIM1, CD40, CD40LG, CD3E, CD3D , (...)

View the complete list with 40 more genes
Specificity
4 %
Genes
100 %
CHARGE association.

By DNAbiolab Cretan Center for Research and Development of Applications on Genetics and Molecular Biology in Greece.

CHD7
Specificity
100 %
Genes
50 %
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis.

By Asper Biogene Asper Biogene LLC in Estonia.

RAX, EYA1, VSX1, PAX6, ABCB6, FOXC1, PITX2, MFRP, OTX2, CYP1B1, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, CHD7, COL4A1, GDF6, FOXE3 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
Autism Spectrum Disorders.

By Asper Biogene Asper Biogene LLC in Estonia.

UBE3A, ADSL, HPRT1, NHS, MECP2, SLC6A8, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, PCDH19, PTPN11, RAI1, HDAC8, TSC2, RAD21, SMC3 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
50 %
CHARGE syndrome, CHD7 sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

CHD7
Specificity
100 %
Genes
50 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
50 %
Congenital heart diseases Panel.

By Health in Code in Spain.

ELN, EYA4, FOXC1, PITX2, JAG1, NPHP4, RAF1, BRAF, CHD7, CREBBP, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, NF1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
50 %
Developmental Eye Disease panel.

By Molecular Vision Laboratory in United States.

RAX, PAX6, PITX3, ABCB6, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, SHH, CRX, STRA6, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7, FKTN , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
50 %
CHARGE syndrome.

By Praxis fuer Humangenetik Wien in Austria.

CHD7
Specificity
100 %
Genes
50 %
Kallmann syndrome 5.

By Praxis fuer Humangenetik Wien in Austria.

CHD7
Specificity
100 %
Genes
50 %
CHD7 Gene Sequencing.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

CHD7
Specificity
100 %
Genes
50 %
CHD7.

By Division Human Genetics Medical University Innsbruck in Austria.

CHD7
Specificity
100 %
Genes
50 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
50 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
2 %
Genes
100 %
CHARGE syndrome.

By MedGene in Slovakia.

CHD7
Specificity
100 %
Genes
50 %
Kallmann syndrome 5.

By MedGene in Slovakia.

CHD7
Specificity
100 %
Genes
50 %
Invitae Congenital Heart Defects and Heterotaxy Panel.

By Invitae in United States.

INVS, ELN, JAG1, NPHP3, CEP290, TTC8, RAF1, RPGR, CCDC39, BCOR, MKS1, BBS10, ALMS1, BRAF, CHD7, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
50 %
Invitae Congenital Heart Disease Panel.

By Invitae in United States.

ELN, JAG1, RAF1, BCOR, ALMS1, BRAF, CHD7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL, NSD1, GPC3, TBX1 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Invitae Isolated Gonadotropin-Releasing Hormone Deficiency Panel.

By Invitae in United States.

CHD7, FGFR1, ANOS1
Specificity
34 %
Genes
50 %
Invitae CHARGE Syndrome Test.

By Invitae in United States.

CHD7
Specificity
100 %
Genes
50 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Invitae Syndromic Combined Immunodeficiency (CID) Panel.

By Invitae in United States.

PMS2, TCN2, STAT3, PNP, CHD7, RMRP, TINF2, ATM, NBN, RTEL1, WAS, TBX1, SEMA3E, DKC1, TERC, TERT, PARN, CTC1, NHP2, NOP10 , (...)

View the complete list with 17 more genes
Specificity
6 %
Genes
100 %
CHARGE syndrome: CHD7 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CHD7
Specificity
100 %
Genes
50 %
CHARGE syndrome: CHD7 gene deletions-duplications analysis (MLPA).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CHD7
Specificity
100 %
Genes
50 %
Kallmann syndrome type 5: CHD7 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CHD7
Specificity
100 %
Genes
50 %
KALLMANN SYNDROME AND RELATED DISORDERS.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CHD7, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, SEMA3A, NSMF, WDR11, TAC3, KISS1, HS6ST1
Specificity
7 %
Genes
50 %
CHARGE Syndrome: CHD7 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CHD7
Specificity
100 %
Genes
50 %
Autism Spectrum Disorders: Tier 2 Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, UBE3A, PTEN, ADSL, HPRT1, NHS, MECP2, SLC9A6, ALDH5A1, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
50 %
Endocrine Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
50 %
Hearing Loss: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, USH1G, USH1C, BTD, EYA1, COL2A1, EYA4, HSD17B4, OPA1, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO , (...)

View the complete list with 111 more genes
Specificity
1 %
Genes
50 %
Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, SLC2A1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
50 %
CHARGE Syndrome: CHD7 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CHD7
Specificity
100 %
Genes
50 %
Endocrine Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
50 %
Hearing Loss: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, USH1G, USH1C, BTD, EYA1, EYA4, HSD17B4, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, CISD2 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
50 %
Familial Congenital Heart Disease Full Gene Sequencing Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

CHD7, NKX2-5, TBX5, GATA4
Specificity
25 %
Genes
50 %
Autism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, TSC2 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
50 %
Kallmann Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CHD7, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, FGF8, ANOS1, SEMA3A, NSMF, TAC3, KISS1
Specificity
8 %
Genes
50 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
50 %
Hypogonadotropic Hypogonadism (HH) and Related Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CHD7, NR0B1, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, FGF8, ANOS1, NSMF, TAC3, KISS1
Specificity
8 %
Genes
50 %
CHD7.

By Fulgent Genetics Fulgent Genetics in United States.

CHD7
Specificity
100 %
Genes
50 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Comprehensive Hearing Loss and Deafness Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15 , (...)

View the complete list with 159 more genes
Specificity
2 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
50 %
Syndromic Hearing Loss Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 66 more genes
Specificity
3 %
Genes
100 %
Congenital Structural Heart Disease Panel.

By Blueprint Genetics in Finland.

ELN, PITX2, JAG1, BCOR, CHD7, DHCR7, HRAS, SOS2, CBL, NSD1, GPC3, ENG, NF1, FLNA, TBX1, ACTB, ACTG1, HOXA1, RBM10, NODAL , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
50 %
Kabuki Syndrome Panel.

By Blueprint Genetics in Finland.

EYA1, CHD7, KMT2D, SIX5, KDM6A, IRF6, FLNB
Specificity
15 %
Genes
50 %
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel.

By Blueprint Genetics in Finland.

FOXL2, RAX, PAX6, ABCB6, OCRL, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
Gastrointestinal Atresia Panel.

By Blueprint Genetics in Finland.

SOX2, FANCC, CHD7, DHCR7, MID1, FANCB, GLI3, EFTUD2, MYCN, RFX6, PTF1A, TTC7A, CLMP
Specificity
8 %
Genes
50 %
Kallmann Syndrome Panel.

By Blueprint Genetics in Finland.

CHD7, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1
Specificity
12 %
Genes
50 %
Abnormal Genitalia/ Disorders of Sex Development Panel.

By Blueprint Genetics in Finland.

STAR, WT1, CYP11B1, HSD3B2, CYP11A1, BCOR, MKS1, CYP17A1, AR, ARX, CHD7, CREBBP, DHCR7, SRY, CDKN1C, FIG4, NR0B1, FGFR1, LHCGR, TACR3 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
50 %
Kallman syndrome, type 5.

By Bioarray in Spain.

CHD7
Specificity
100 %
Genes
50 %
CHARGE syndrome.

By Bioarray in Spain.

CHD7
Specificity
100 %
Genes
50 %
Kallmann Syndrome NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

CHD7, FGFR1, GNRHR, PROKR2, PROK2, FGF8, ANOS1
Specificity
15 %
Genes
50 %
CHD7 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

CHD7
Specificity
100 %
Genes
50 %
Exome.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil.

BRCA1, BRCA2, FMR1, HTT, HFE, TTR, UBE3A, APC, MUTYH, PTEN, TP53, ALPL, COL2A1, COL1A1, COL1A2, COL3A1, PRKCG, TGFB1, RET, AFG3L2 , (...)

View the complete list with 46 more genes
Specificity
4 %
Genes
100 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
KALLMANN SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

CHD7, FGFR1, PROKR2, PROK2, FGF8, ANOS1
Specificity
17 %
Genes
50 %
CHARGE SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

CHD7
Specificity
100 %
Genes
50 %
KALLLMAN SYNDROME (HYPOGONADOTROPIC HYPOGONADISM).

By Laboratorio de Genetica Clinica SL in Spain.

CHD7, FGFR1, PROKR2, FGF8, ANOS1
Specificity
20 %
Genes
50 %
Kallmann syndrome/gonadotropin-releasing hormone deficiency panel.

By LifeLabs Genetics in Canada.

CHD7, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, SEMA3A, TAC3
Specificity
10 %
Genes
50 %
Kallmann Syndrome Type 5, Sequencing CHD7 Gene.

By Reference Laboratory Genetics in Spain.

CHD7
Specificity
100 %
Genes
50 %
CHARGE Syndrome , Deletions-Duplications (MLPA) CHD7 Gene.

By Reference Laboratory Genetics in Spain.

CHD7
Specificity
100 %
Genes
50 %
CHARGE Syndrome, Massive Sequencing (NGS) CHD7 Gene.

By Reference Laboratory Genetics in Spain.

CHD7
Specificity
100 %
Genes
50 %
Kallmann Syndrome , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

CHD7, NR0B1, GNRH1, FGFR1, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, SEMA3A, NSMF, LHB, FSHB, WDR11, TAC3, KISS1, POLR3B, HS6ST1
Specificity
5 %
Genes
50 %
Facial Dysostosis Related Disorders , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

DHODH, CHD7, POLR1C, TCOF1, POLR1D, EFTUD2, EVC, MYCN, SF3B4, MIR17HG
Specificity
10 %
Genes
50 %
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes.

By Reference Laboratory Genetics in Spain.

FMR1, UBE3A, PTEN, HPRT1, NHS, MECP2, SLC9A6, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, MEF2C, PCDH19, PTPN11, RAI1, TSC2 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
50 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
50 %
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

CHD7, FGFR1, TACR3, GNRHR, PROKR2, ANOS1, SOX10, IL17RD
Specificity
13 %
Genes
50 %
CHARGE syndrome (sequence analysis of SEMA3E gene).

By CGC Genetics in Portugal.

SEMA3E
Specificity
100 %
Genes
50 %
CHARGE syndrome (sequence analysis of SEMA3E gene).

By CGC Genetics in Portugal.

SEMA3E
Specificity
100 %
Genes
50 %
CHARGE Syndrome via the SEMA3E Gene.

By PreventionGenetics PreventionGenetics in United States.

SEMA3E
Specificity
100 %
Genes
50 %
Single gene testing SEMA3E.

By CeGaT GmbH in Germany.

SEMA3E
Specificity
100 %
Genes
50 %
SEMA3E.

By Fulgent Genetics Fulgent Genetics in United States.

SEMA3E
Specificity
100 %
Genes
50 %
CHARGE Syndrome, Sequencing SEMA3E Gene.

By Reference Laboratory Genetics in Spain.

SEMA3E
Specificity
100 %
Genes
50 %

Alternate names

Charge Syndrome Is also known as charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies, hall-hittner syndrome;hhs;charge association; coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; hall-hittner syndrome.



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