FGF8 gene related symptoms and diseases

All the information presented here about the FGF8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FGF8 gene

Symptoms // Phenotype % Cases
Primary amenorrhea Uncommon - Between 30% and 50% cases
Hypogonadotrophic hypogonadism Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Delayed skeletal maturation Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with FGF8 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Micropenis
  • Rarely - Less than 30% cases

  • Gynecomastia
  • Sensorineural hearing impairment
  • Hyposmia
  • Anosmia
  • Abnormality of the voice
  • Decreased testicular size
  • Breast hypoplasia

And 63 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to FGF8 gene

Here you will find a list of rare diseases related to the FGF8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA; HH6


Description

Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.

Most common symptoms of HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA; HH6

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • High palate


More info about HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA; HH6

SOURCES: OMIM MESH

KALLMANN SYNDROME


Alternate names

KALLMANN SYNDROME Is also known as congenital hypogonadotropic hypogonadism with anosmia, olfacto-genital pathological sequence

Description

Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).

Most common symptoms of KALLMANN SYNDROME

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


More info about KALLMANN SYNDROME

SOURCES: ORPHANET

SEMILOBAR HOLOPROSENCEPHALY


Description

Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.


More info about SEMILOBAR HOLOPROSENCEPHALY

SOURCES: ORPHANET

SEPTOPREOPTIC HOLOPROSENCEPHALY


Alternate names

SEPTOPREOPTIC HOLOPROSENCEPHALY Is also known as septopreoptic hpe

Description

Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion.


More info about SEPTOPREOPTIC HOLOPROSENCEPHALY

SOURCES: ORPHANET

NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM


Alternate names

NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency, normosmic idiopathic hypogonadotropic hypogonadism, gonadotropic deficiency, nihh

Most common symptoms of NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Depressed nasal bridge
  • Abnormality of the dentition


More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

SOURCES: ORPHANET

LOBAR HOLOPROSENCEPHALY


Description

Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.


More info about LOBAR HOLOPROSENCEPHALY

SOURCES: ORPHANET

ALOBAR HOLOPROSENCEPHALY


Description

Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure.


More info about ALOBAR HOLOPROSENCEPHALY

SOURCES: ORPHANET

MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY


Alternate names

MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY Is also known as mihf, mihv, middle interhemispheric variant of holoprosencephaly, mih, mih type hpe, syntelencephaly, middle interhemispheric fusion variant

Description

Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.


More info about MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY

SOURCES: ORPHANET


Potential gene panels for FGF8 gene

FGF8 DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the FGF8 gene.

More info about this panel

Anosmic Kallmann/IHH Evaluation Panel

United States.

By Athena Diagnostics Inc Anosmic Kallmann/IHH Evaluation that also includes the following genes: PROKR2 PROK2 FGF8 FGFR1 GNRHR KISS1R ANOS1

More info about this panel

Complete Kallmann/IHH Evaluation Panel

United States.

By Athena Diagnostics Inc Complete Kallmann/IHH Evaluation that also includes the following genes: TACR3 PROKR2 PROK2 CHD7 FGF8 FGFR1 GNRH1 GNRHR KISS1R ANOS1

More info about this panel

Comprehensive Brain Malformation Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8

More info about this panel

Holoprosencephaly Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Holoprosencephaly that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DISP1 DLL1 FGF8 FOXH1 GAS1

More info about this panel

Hypogonadotropic Hypogonadism Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypogonadotropic Hypogonadism Sequencing Panel that also includes the following genes: TAC3 TACR3 WDR11 PROKR2 IL17RD PROK2 CHD7 FEZF1 NSMF FGF17

More info about this panel

Holoprosencephaly Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Holoprosencephaly Sequencing Panel that also includes the following genes: SHH STIL SIX3 TGIF1 ZIC2 CDON FGF8 FGFR1 GLI2 PTCH1

More info about this panel

Holoprosencephaly Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Holoprosencephaly Deletion/Duplication Panel that also includes the following genes: SHH STIL SIX3 TGIF1 ZIC2 CDON FGF8 FGFR1 GLI2 PTCH1

More info about this panel

Hypogonadotropic Hypogonadism Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypogonadotropic Hypogonadism Deletion/Duplication Panel that also includes the following genes: TAC3 TACR3 WDR11 PROKR2 IL17RD PROK2 CHD7 FEZF1 NSMF FGF17

More info about this panel

Kallmann Syndrome Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Kallmann Syndrome Sequencing Panel that also includes the following genes: TAC3 TACR3 WDR11 PROKR2 IL17RD PROK2 CHD7 FEZF1 NSMF FGF17

More info about this panel

Holoprosencephaly Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Holoprosencephaly Panel, Sequencing and Deletion/Duplication that also includes the following genes: SHH SIX3 TGIF1 ZIC2 DISP1 FGF8 FOXH1 GLI2 NODAL PTCH1

More info about this panel

Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal that also includes the following genes: SHH SIX3 TGIF1 ZIC2 DISP1 FGF8 FOXH1 GLI2 NODAL PTCH1

More info about this panel

FGF8. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FGF8 gene.

More info about this panel

Hypogonadotropic hypogonadism 6 with or without anosmia (sequence analysis of FGF8 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FGF8 gene.

More info about this panel

Holoprosencephaly (NGS panel for 9 genes) Panel

Portugal.

By CGC Genetics Holoprosencephaly (NGS panel for 9 genes) that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON FGF8 GLI2 GLI3 PTCH1

More info about this panel

Hypogonadism hypogonadotropic (NGS panel of 26 genes) Panel

Portugal.

By CGC Genetics Hypogonadism hypogonadotropic (NGS panel of 26 genes) that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 SPRY4 PROKR2 IL17RD PROK2 CHD7 FEZF1

More info about this panel

Septooptic dysplasia (NGS panel for 17 genes) Panel

Portugal.

By CGC Genetics Septooptic dysplasia (NGS panel for 17 genes) that also includes the following genes: SLC12A6 SOX2 SOX3 LHX4 EPG5 TAX1BP3 FGF8 FGFR2 GH1 GLI2

More info about this panel

Hypogonadism hypogonadotropic (NGS panel of 26 genes) Panel

Portugal.

By CGC Genetics Hypogonadism hypogonadotropic (NGS panel of 26 genes) that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 SPRY4 PROKR2 IL17RD PROK2 CHD7 FEZF1

More info about this panel

Septooptic dysplasia (NGS panel for 17 genes) Panel

Portugal.

By CGC Genetics Septooptic dysplasia (NGS panel for 17 genes) that also includes the following genes: SLC12A6 SOX2 SOX3 LHX4 EPG5 TAX1BP3 FGF8 FGFR2 GH1 GLI2

More info about this panel

Hypospadias Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4

More info about this panel

Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel with CNV Detection that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DISP1 DLL1 FGF8 FOXH1 GAS1

More info about this panel

Kallmann Syndrome (KS) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Kallmann Syndrome (KS) Sequencing Panel with CNV Detection that also includes the following genes: SOX10 TACR3 PROKR2 IL17RD PROK2 CHD7 FGF8 FGFR1 GNRHR ANOS1

More info about this panel

Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E SOX10 SOX2 SOX3 TAC3 TACR3 WDR11 SPRY4 PROKR2

More info about this panel

Female Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel

Male Infertility Sequencing Panel with CNV Detection Panel

United States.

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

More info about this panel

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

United States.

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

More info about this panel

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

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2

More info about this panel

Brain Malformations / Neuronal Migration Disorders Panel

Germany.

By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2

More info about this panel

Holoprosencephaly Panel

Germany.

By MGZ Medical Genetics Center Holoprosencephaly that also includes the following genes: CDON DISP1 FGF8 FOXH1 GLI2 NODAL PTCH1

More info about this panel

Holoprosencephaly panel Panel

Germany.

By Centogene AG - the Rare Disease Company Holoprosencephaly panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON FGF8 GLI2 GLI3 PTCH1

More info about this panel

Kallmann syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FGF8 gene.

More info about this panel

Kallmann syndrome Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum Kallmann syndrome that also includes the following genes: PROKR2 PROK2 CHD7 FGF8 FGFR1 ANOS1

More info about this panel

Single gene testing FGF8 Panel

Germany.

By CeGaT GmbH

This panel specifically test the FGF8 gene.

More info about this panel

Kallmann syndrome 6 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the FGF8 gene.

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel

Kallmann syndrome 6 Panel

Slovakia.

By MedGene

This panel specifically test the FGF8 gene.

More info about this panel

HOLOPROSENCEPHALY Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases HOLOPROSENCEPHALY that also includes the following genes: SIX3 TGIF1 ZIC2 CDON DLL1 FGF8 FOXH1 GAS1 GLI2 NODAL

More info about this panel

KALLMANN SYNDROME AND RELATED DISORDERS Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases KALLMANN SYNDROME AND RELATED DISORDERS that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 PROKR2 PROK2 CHD7 NSMF FGF8 FGFR1

More info about this panel

Septooptic dysplasia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Septooptic dysplasia that also includes the following genes: SOX2 SOX3 LHX4 FGF8 GLI2 HESX1 LHX3 OTX2 PAX6

More info about this panel

Endocrine Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Sequencing Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24

More info about this panel

Neurology: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3

More info about this panel

Endocrine Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Deletion/Duplication Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24

More info about this panel

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel

Kallmann Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Kallmann Syndrome NGS Panel that also includes the following genes: SEMA3A TAC3 TACR3 PROKR2 CHD7 NSMF FGF8 FGFR1 GNRH1 GNRHR

More info about this panel

Hypogonadotropic Hypogonadism (HH) and Related Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hypogonadotropic Hypogonadism (HH) and Related Disorders NGS Panel that also includes the following genes: TAC3 TACR3 PROKR2 CHD7 NSMF FGF8 FGFR1 GNRH1 GNRHR KISS1R

More info about this panel

FGF8 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FGF8 gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

Holoprosencephaly Panel Panel

Finland.

By Blueprint Genetics Holoprosencephaly Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON FGF8 FGFR1 FOXH1 GLI2 GLI3

More info about this panel

Kallmann Syndrome Panel Panel

Finland.

By Blueprint Genetics Kallmann Syndrome Panel that also includes the following genes: TACR3 PROKR2 PROK2 CHD7 FGF8 FGFR1 GNRHR KISS1R ANOS1

More info about this panel

Abnormal Genitalia/ Disorders of Sex Development Panel Panel

Finland.

By Blueprint Genetics Abnormal Genitalia/ Disorders of Sex Development Panel that also includes the following genes: SOX9 SRD5A2 SRY STAR TACR3 CEP41 WT1 PROKR2 ZFPM2 FIG4

More info about this panel

Holoprosencephaly type 8 Panel

Spain.

By Bioarray

This panel specifically test the FGF8 gene.

More info about this panel

Kallmann Syndrome NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Kallmann Syndrome NGS and Deletion/Duplication Panel that also includes the following genes: PROKR2 PROK2 CHD7 FGF8 FGFR1 GNRHR ANOS1

More info about this panel

FGF8 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the FGF8 gene.

More info about this panel

KALLMANN SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL KALLMANN SYNDROME that also includes the following genes: PROKR2 PROK2 CHD7 FGF8 FGFR1 ANOS1

More info about this panel

KALLLMAN SYNDROME (HYPOGONADOTROPIC HYPOGONADISM) Panel

Spain.

By Laboratorio de Genetica Clinica SL KALLLMAN SYNDROME (HYPOGONADOTROPIC HYPOGONADISM) that also includes the following genes: PROKR2 PROK2 CHD7 FGF8 FGFR1 ANOS1

More info about this panel

HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA (KALLLMAN SYNDROME) NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA (KALLLMAN SYNDROME) NGS PANEL that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 SPRY4 PROKR2 IL17RD PROK2 CHD7 FEZF1

More info about this panel

HOLOPROSENCEPHALY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL HOLOPROSENCEPHALY NGS PANEL that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DLL1 FGF8 FGFR1 FOXH1 GAS1

More info about this panel

Kallmann syndrome/gonadotropin-releasing hormone deficiency panel Panel

Canada.

By LifeLabs Genetics Kallmann syndrome/gonadotropin-releasing hormone deficiency panel that also includes the following genes: SEMA3A TAC3 TACR3 PROKR2 PROK2 CHD7 FGF8 FGFR1 GNRH1 GNRHR

More info about this panel

Kallmann Syndrome Type 6 , Sequencing FGF8 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FGF8 gene.

More info about this panel

Holoprosencephaly, Panel Massive Sequencing (NGS) 8 Genes Panel

Spain.

By Reference Laboratory Genetics Holoprosencephaly, Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: SIX3 TGIF1 ZIC2 CDON FGF8 GLI2 NODAL PTCH1

More info about this panel

Kallmann Syndrome , Panel Massive Sequencing (NGS) 20 Genes Panel

Spain.

By Reference Laboratory Genetics Kallmann Syndrome , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 PROKR2 PROK2 CHD7 NSMF POLR3B FGF8

More info about this panel

Septo-Optic Dysplasia , Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

By Reference Laboratory Genetics Septo-Optic Dysplasia , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: SOX2 SOX3 LHX4 FGF8 GLI2 HESX1 LHX3 OTX2 PAX6

More info about this panel

Tempus xT assay Panel

United States.

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

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel

Holoprosencephaly: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Holoprosencephaly: gene sequencing panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DISP1 DLL1 FGF8 FOXH1 GAS1

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CNNM2 CCDC103 RP1L1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more