FMR1 gene related symptoms and diseases

All the information presented here about the FMR1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FMR1 gene

Symptoms // Phenotype % Cases
Premature ovarian insufficiency Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Depressivity Uncommon - Between 30% and 50% cases
Neonatal hypotonia Uncommon - Between 30% and 50% cases
Obesity Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with FMR1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Muscular hypotonia
  • Generalized hypotonia
  • Seizures
  • High palate
  • Postural instability
  • Aggressive behavior
  • Anxiety
  • Autism

And 178 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FMR1 gene

Here you will find a list of rare diseases related to the FMR1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME


Alternate names

FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME Is also known as fxtas syndrome

Description

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.

Most common symptoms of FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


More info about FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME

SOURCES: MESH OMIM ORPHANET

PREMATURE OVARIAN FAILURE 1; POF1


Alternate names

PREMATURE OVARIAN FAILURE 1; POF1 Is also known as ovarian failure, premature, pof, primary ovarian insufficiency, fragile x-associated, pofx, hypergonadotropic ovarian failure, x-linked, premature ovarian failure, x-linked, fragile x premature ovarian failure

Description

Premature ovarian failure is clearly a heterogeneous disorder. The terms 'hypergonadotropic ovarian failure' and 'hypergonadotropic ovarian dysgenesis' (see ODG1, {233300}) have been used to indicate a group of disorders in which amenorrhea associated with elevated levels of serum gonadotropins occurs long before the age of 40 years (Coulam, 1982). Cytogenetic studies of X-chromosome aberrations have suggested that it is mainly the long arm of the X chromosome that is involved in defects of ovulation (Bione et al., 1998). ReviewsRossetti et al. (2017) reviewed the genetics of primary ovarian insufficiency, noting that the significance of this disorder was increasing because of the increasing number of women desiring conception beyond 30 years of age, at which point POF prevalence is more than 1%. Genetic Heterogeneity of Premature Ovarian FailureMutations in genes identified within a region defined as POF2 (Xq13.3-q21.1) have been found to cause other forms of POF: POF2A (OMIM ) by mutation in the DIAPH2 gene (OMIM ) and POF2B (OMIM ) by mutation in the POF1B gene (OMIM ). See also POF3 (OMIM ), caused by mutation in the FOXL2 gene (OMIM ) on chromosome 3q22; POF4 (see {300510}), caused by mutation in the BMP15 gene (OMIM ) on chromosome Xp11; POF5 (OMIM ), caused by mutation in the NOBOX gene (OMIM ) on chromosome 7q35; POF6 (OMIM ), caused by mutation in the FIGLA gene (OMIM ) on chromosome 2p13; POF7 (OMIM ), caused by mutation in the NR5A1 gene (OMIM ) on chromosome 9q33; POF8 (OMIM ), caused by mutation in the STAG3 gene (OMIM ) on chromosome 7q22; POF9 (OMIM ), caused by mutation in the HFM1 gene (OMIM ) on chromosome 1p22; POF10 (OMIM ), caused by mutation in the MCM8 gene (OMIM ) on chromosome 20p12; POF11 (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; POF12 (OMIM ), caused by mutation in the SYCE1 gene (OMIM ) on chromosome 10q26; POF13 (OMIM ), caused by mutation in the MSH5 gene (OMIM ) on chromosome 6p21; and POF14 (OMIM ), caused by mutation in the GDF9 gene (OMIM ) on chromosome 5q31.In 100 patients with primary or secondary amenorrhea before the age of 40 years, who also exhibited elevated FSH, Bouilly et al. (2016) screened for variants in 19 POF-associated or candidate genes. The authors noted that 8 of the 19 mutation-positive patients carried a genetic defect in more than 1 gene, and that patients with 2 or more variants tended to have a younger age of onset and were more likely have primary rather than secondary amenorrhea. Bouilly et al. (2016) suggested that digenicity and possibly oligogenicity may contribute to POF, noting that this might account for the phenotypic variability and incomplete penetrance that have been observed in patients with POF.

Most common symptoms of PREMATURE OVARIAN FAILURE 1; POF1

  • Intellectual disability
  • High palate
  • Abnormality of metabolism/homeostasis
  • Sparse hair
  • Autoimmunity


More info about PREMATURE OVARIAN FAILURE 1; POF1

SOURCES: ORPHANET OMIM

FRAGILE X SYNDROME


Alternate names

FRAGILE X SYNDROME Is also known as marker x syndrome, fraxa syndrome, martin-bell syndrome, mental retardation, x-linked, associated with marxq28, fragile x mental retardation syndrome, frax syndrome, fxs, x-linked mental retardation and macroorchidism

Description

Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

Most common symptoms of FRAGILE X SYNDROME

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Strabismus


More info about FRAGILE X SYNDROME

SOURCES: OMIM ORPHANET

XQ27.3Q28 DUPLICATION SYNDROME


Alternate names

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28, dup(x)(q27.3q28), xq27.3-q28 microduplication syndrome, trisomy xq27.3-q28

Description

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

Most common symptoms of XQ27.3Q28 DUPLICATION SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


More info about XQ27.3Q28 DUPLICATION SYNDROME

SOURCES: OMIM ORPHANET

SYMPTOMATIC FORM OF FRAGILE X SYNDROME IN FEMALE CARRIER



More info about SYMPTOMATIC FORM OF FRAGILE X SYNDROME IN FEMALE CARRIER

SOURCES: ORPHANET


Potential gene panels for FMR1 gene

FRX Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the FMR1 gene.

More info about this panel

FMR1 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the FMR1 gene.

More info about this panel

FMR1 Sequence Analysis (Familial Mutation/Variant Analysis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the FMR1 gene.

More info about this panel

FMR1 Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the FMR1 gene.

More info about this panel

GeneAware Complete Panel Version 2 (Female) Panel

United States.

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

More info about this panel

GeneAware Basic Panel Version 2 (Female) Panel

United States.

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

More info about this panel

GeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel

United States.

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

More info about this panel

GeneAware ACMG/ACOG Panel Version 2 (Female) Panel

United States.

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

More info about this panel

Syndromic Autism Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Syndromic Autism Panel that also includes the following genes: SCN1A SCN2A BRAF SLC2A1 SLC9A6 SMC1A KDM5C CDKL5 STXBP1 TBR1

More info about this panel

NGS XLID Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

Fragile X syndrome Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X syndrome Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X Syndrome and FMR1-Related Disorders Panel

United States.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X Panel

United States.

By Molecular Pathology Laboratory University of Pennsylvania Health System

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X-associated tremor/ataxia syndrome Panel

Argentina.

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

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X syndrome Panel

Argentina.

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

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X-associated premature ovarian insufficiency Panel

Argentina.

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

This panel specifically test the FMR1 gene.

More info about this panel

FMR1, CGG Repeats (includes Southern Blot if positive) Panel

United States.

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

This panel specifically test the FMR1 gene.

More info about this panel

FMR1, Del-Dup Targeted Exonic Microarray Panel

United States.

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

This panel specifically test the FMR1 gene.

More info about this panel

Test for FMR1-Related Disorders Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X syndrome Panel

Canada.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X - Related Disorders Panel

United States.

By Center for Genetics at Saint Francis Saint Francis Hospital

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X syndrome Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the FMR1 gene.

More info about this panel

FMR1-Related Disorders Test Panel

United States.

By Genetics Laboratory - Department of Pathology Rush University Medical Center

This panel specifically test the FMR1 gene.

More info about this panel

FMR1 Related Disorders Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the FMR1 gene.

More info about this panel

FMR1-Related Primary Ovarian Insufficiency (POI) Panel

United States.

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

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X Syndrome Panel

United States.

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

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) Panel

United States.

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

This panel specifically test the FMR1 gene.

More info about this panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

X-linked Intellectual Disabilities Sequencing Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-linked Intellectual Disabilities Sequencing that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

FMR1-related disorders Panel

United States.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X Syndrome, DNA Analysis, Prenatal With Southern Blot Analysis Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X Syndrome, PCR With Reflex to Southern Blot Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X, PCR and Southern blot Analysis Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the FMR1 gene.

More info about this panel

FRAGILE X (FMR1) Panel

United States.

By Molecular and Biochemical Genetics Laboratory Dayton Children's Hospital

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X Panel

United States.

By Genetics Laboratory Shodair Children's Hospital

This panel specifically test the FMR1 gene.

More info about this panel

FMR1-Related Disorders Panel

United States.

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

This panel specifically test the FMR1 gene.

More info about this panel

FMR1 CGG trinucleotide repeat testing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the FMR1 gene.

More info about this panel

FMR1 Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the FMR1 gene.

More info about this panel

Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1

More info about this panel

X-linked Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago X-linked Non-Specific Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS CDKL5 SYN1

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Fragile X Syndrome Panel

United States.

By Genetics Laboratory Shodair Children's Hospital

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X Tremor-Ataxia Syndrome Panel

United States.

By Genetics Laboratory Shodair Children's Hospital

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X Syndrome Panel

United States.

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

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X Panel

United States.

By Michigan State University Clinical Genetics Laboratory Michigan State University

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X syndrome Panel

United States.

By Molecular Genetics Columbia University

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X Syndrome Panel

New Zealand.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X syndrome Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X (FMR1) with Reflex to Methylation Analysis Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X (FMR1) with Reflex to Methylation Analysis, Fetal Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the FMR1 gene.

More info about this panel

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

United States.

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

More info about this panel

Fragile X Mutation Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta Fragile X Mutation that also includes the following genes: POF1B FMR1

More info about this panel

FMR1 - Related Disorders Panel

Brazil.

By GENE Núcleo de Genética Médica de Minas Gerais

This panel specifically test the FMR1 gene.

More info about this panel

Autism/Intellectual Disability/Multiple Anomalies Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Autism/Intellectual Disability/Multiple Anomalies that also includes the following genes: BDNF RPS6KA3 SCN1A BRAF SLC2A1 SLC6A4 SLC9A6 SMC1A KDM5C SOS1

More info about this panel

Fragile X Syndrome Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the FMR1 gene.

More info about this panel

FMR1-Related Disorders Panel

United Kingdom.

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

This panel specifically test the FMR1 gene.

More info about this panel

AutismNext Panel

United States.

By Ambry Genetics AutismNext that also includes the following genes: SCN2A SLC6A8 SLC9A6 SMC1A CDKL5 SYNGAP1 TBR1 TCF4 MED12 TSC1

More info about this panel

CustomNext: Neuro Panel

United States.

By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

Neurodevelopment-Expanded Panel

United States.

By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

IDNext Panel

United States.

By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2

More info about this panel

Fragile X Syndrome Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the FMR1 gene.

More info about this panel

FMR1. CGG expansion detection by PCR and TP-PCR if necessary Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FMR1 gene.

More info about this panel

FMR1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FMR1 gene.

More info about this panel

FMR1. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X Syndrome - FMR1 Asuragen-PCR Triplet Repeat Panel

United States.

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

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X repeat analysis Panel

Argentina.

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

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X syndrome (FMR1 gene, msTP-PCR) Panel

Portugal.

By CGC Genetics

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X tremor/ataxia syndrome (FRAXA, FMR1 gene, conventional PCR) Panel

Portugal.

By CGC Genetics

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X tremor/ataxia syndrome (FMR1 gene, msTP-PCR) Panel

Portugal.

By CGC Genetics

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X syndrome (sequence analysis of FMR1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FMR1 gene.

More info about this panel

X-linked mental retardation (deletion/duplication analysis, multiple genes) Panel

Portugal.

By CGC Genetics X-linked mental retardation (deletion/duplication analysis, multiple genes) that also includes the following genes: RPS6KA3 SLC6A8 TSPAN7 ARX DCX HUWE1 AGTR2 ACSL4 FMR1 AFF2

More info about this panel

Fragile X syndrome (FRAXA, FMR1 gene, conventional PCR) Panel

Portugal.

By CGC Genetics

This panel specifically test the FMR1 gene.

More info about this panel

Premature ovarian failure (FMR1 gene, conventional PCR) Panel

Portugal.

By CGC Genetics

This panel specifically test the FMR1 gene.

More info about this panel

Premature ovarian failure (FMR1 gene, msTP-PCR) Panel

Portugal.

By CGC Genetics

This panel specifically test the FMR1 gene.

More info about this panel

Mental retardation, X-linked (NGS panel for 89 genes) Panel

Portugal.

By CGC Genetics Mental retardation, X-linked (NGS panel for 89 genes) that also includes the following genes: RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

Periventricular nodular heterotopia (NGS panel of 8 genes) Panel

Portugal.

By CGC Genetics Periventricular nodular heterotopia (NGS panel of 8 genes) that also includes the following genes: DCHS1 ARFGEF2 ERMARD FAT4 FLNA FMR1 LRP2 NEDD4L

More info about this panel

Periventricular nodular heterotopia (NGS panel of 8 genes) Panel

Portugal.

By CGC Genetics Periventricular nodular heterotopia (NGS panel of 8 genes) that also includes the following genes: DCHS1 ARFGEF2 ERMARD FAT4 FLNA FMR1 LRP2 NEDD4L

More info about this panel

FRAGILEX A SYNDROME Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the FMR1 gene.

More info about this panel

FMR1-Related Disorders Panel

United States.

By University of Iowa Diagnostic Laboratories University of Iowa Hospitals and Clinics

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X Syndrome via FMR1 CGG Repeat Expansion Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FMR1 gene.

More info about this panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS

More info about this panel

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

FMR1-Related Disorders Panel

Argentina.

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

This panel specifically test the FMR1 gene.

More info about this panel

FMR1-Related Disorders Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the FMR1 gene.

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

X-Linked Mental Retardation Panel

Germany.

By MGZ Medical Genetics Center X-Linked Mental Retardation that also includes the following genes: RPL10 RPS6KA3 SLC12A6 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3

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

FMR1-Related Disorders Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X syndrome Panel

Germany.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München Fragile X syndrome that also includes the following genes: FMR1 AFF2

More info about this panel

fragile-X Panel

Canada.

By Laboratoire de Diagnostic Moleculaire Hopital Saint-Francois d'Assise du CHU de Québec

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X Panel

India.

By GeneTech ATS GeneTech Private Limited

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X tremor/ataxia syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FMR1 gene.

More info about this panel

Premature ovarian failure type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FMR1 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Fragile X syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FMR1 gene.

More info about this panel

fragile X DNA analysis Panel

United States.

By Fragile X Laboratory/IBR Specialty Clinical Laboratories New York State Institute for Basic Research in Developmental Disabilities

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X Molecular Analysis Panel

United States.

By UW Cytogenetic Services University of Wisconsin - Madison / WSLH

This panel specifically test the FMR1 gene.

More info about this panel

Parkinson all Panel Panel

Germany.

By CeGaT GmbH Parkinson all Panel that also includes the following genes: ATXN2 SLC6A3 SNCA SPG11 SPR SYNJ1 TAF1 TH VPS35 FBXO7

More info about this panel

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

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Atypical Parkinson syndrome Panel Panel

Germany.

By CeGaT GmbH Atypical Parkinson syndrome Panel that also includes the following genes: ATXN2 SPG11 SYNJ1 TH FBXO7 DNAJC6 RAB39B ATP6AP2 ZFYVE26 SLC30A10

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Fragile-X Syndrome Panel

India.

By Molecular Diagnostics Division Centre for Cellular and Molecular Biology

This panel specifically test the FMR1 gene.

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Test for FMR1-Related Disorders Panel

United Kingdom.

By All Wales Genetics Laboratory Institute of Medical Genetics

This panel specifically test the FMR1 gene.

More info about this panel

FMR1-Related Disorders Panel

Spain.

By Medical Genetics Unit Sistemas Genómicos

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X Syndrome Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center

This panel specifically test the FMR1 gene.

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FMR1-Related Disorders Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X Syndrome, FMR1 Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the FMR1 gene.

More info about this panel

Male Factor Infertility Panel

Estonia.

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

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Fragile X Syndrome Panel

Estonia.

By Asper Biogene Asper Biogene LLC

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X syndrome(FRAXA), FMR1 Southern Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the FMR1 gene.

More info about this panel

FMR1-Related Disorders Panel

Netherlands.

By Clinical Genomics Maastricht University Medical Centre

This panel specifically test the FMR1 gene.

More info about this panel

Xpansion Interpreter Panel

United States.

By Asuragen Clinical Laboratory Asuragen, Inc

This panel specifically test the FMR1 gene.

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Fragile X syndrome A Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X Syndrome Panel

Colombia.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X by MS-PCR Panel

Singapore.

By Molecular Diagnosis Centre National University Hospital

This panel specifically test the FMR1 gene.

More info about this panel

Family Prep Screen Panel

United States.

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

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qChip Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1

More info about this panel

qCarrier Plus Panel

Spain.

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

More info about this panel

Fragile X syndrome A Panel

Slovakia.

By MedGene

This panel specifically test the FMR1 gene.

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Fragile X syndrome: FMR1 gene screening Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X: FMR1 Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X: FMR1 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X: CGG Repeat Analysis Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the FMR1 gene.

More info about this panel

Premature Ovarian Failure: FMR1 CGG Repeat Analysis Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): CGG Repeat Analysis Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the FMR1 gene.

More info about this panel

Infertility Panel: Female (Chromosomes, FMR1-related POF) Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the FMR1 gene.

More info about this panel

Autism Spectrum Panel: Complete Tier 1 Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the FMR1 gene.

More info about this panel

Autism Spectrum Disorders: Tier 1 Cytogenetic and Molecular Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the FMR1 gene.

More info about this panel

X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

Autism Spectrum Disorders: Tier 2 Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Autism Spectrum Disorders: Tier 2 Panel that also includes the following genes: SCN1A BRAF SLC2A1 SLC9A6 SMARCB1 SMC1A KDM5C CDKL5 TCF4 MED12

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Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

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

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Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel Panel

United States.

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

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Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel Panel

United States.

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

More info about this panel

Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel that also includes the following genes: SCN1A BRAF SLC2A1 SLC9A6 SMARCB1 SMC1A KDM5C CDKL5 TCF4 MED12

More info about this panel

Inheritest NGS, Society Guided Panel Panel

United States.

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

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Inheritest NGS, Ashkenazi Jewish Ancestry Panel Panel

United States.

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

More info about this panel

Fragile X Analysis, PCR and Southern Blot (symptomatic/fam hx) Panel

United States.

By Integrated Genetics Westborough Integrated Genetics

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X Analysis, PCR with Reflex Southern Blot (no fam hx) Panel

United States.

By Integrated Genetics Westborough Integrated Genetics

This panel specifically test the FMR1 gene.

More info about this panel

Inheritest NGS, Comprehensive Panel

United States.

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

More info about this panel

Autism NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Autism NGS Panel that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

XLID NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

Fragile X Tremor/Ataxia Syndrome Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FMR1 gene.

More info about this panel

FMR1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FMR1 gene.

More info about this panel

XSense(R), Fragile X with Reflex Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the FMR1 gene.

More info about this panel

XSense(R), Fragile X with Reflex (NY) Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the FMR1 gene.

More info about this panel

Ataxia Panel Panel

Finland.

By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2

More info about this panel

X-linked Intellectual Disability Panel Panel

Finland.

By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5

More info about this panel

Fragile X syndrome analysis Panel

United States.

By Insight Medical Genetics

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X syndrome Panel

Spain.

By Bioarray

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X syndrome Panel

Spain.

By Bioarray

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X syndrome Panel

Spain.

By Bioarray

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X syndrome and associated disorders Panel

Brazil.

By Genomic Engenharia Molecular

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X Syndrome Panel

United States.

By Tulane Hayward Genetics Center Molecular Diagnostics Lab Tulane University

This panel specifically test the FMR1 gene.

More info about this panel

Exome Panel

Brazil.

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

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

Fragile X mutation analysis by PCR Panel

India.

By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics

This panel specifically test the FMR1 gene.

More info about this panel

FRAGILE X SYNDROME (FRAX) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X Syndrome, Sequencing FMR1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FMR1 gene.

More info about this panel

Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel

Spain.

By Reference Laboratory Genetics Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

More info about this panel

Fragile X syndrome Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the FMR1 gene.

More info about this panel

Premature ovarian failure 1 Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X tremor/ataxia syndrome Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X Syndrome: FMR1 analysis for FRAXA locus (CGG repeats) Panel

India.

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

This panel specifically test the FMR1 gene.

More info about this panel

planTrue Extended Panel

United States.

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

More info about this panel

Phosphorus Female Infertility Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Female Infertility Panel that also includes the following genes: BMP15 FOXL2 STAG3 ZP1 CAPN10 THADA NOBOX CYP11A1 CYP17A1 CYP19A1

More info about this panel

Premature Ovarian Failure: FMR1 CGG Repeat Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the FMR1 gene.

More info about this panel

Female infertility genetic testing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Female infertility genetic testing that also includes the following genes: BMP15 ZP1 FMR1 FSHR LHB LHCGR

More info about this panel

Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis that also includes the following genes: BMP15 FOXL2 POF1B PSMC3IP HFM1 NOBOX FIGLA CYP17A1 CYP19A1 DIAPH2

More info about this panel

Fragile X syndrome Panel

Hungary.

By Genomic Laboratory Semmelweis University

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X syndrome Panel

Iran.

By Tehran Medical Genetics Laboratory

This panel specifically test the FMR1 gene.

More info about this panel

Fragile X syndrome Panel

India.

By Genetic Services Unit National Institute of Biomedical Genomics

This panel specifically test the FMR1 gene.

More info about this panel


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