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.
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
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).
Most common symptoms of PREMATURE OVARIAN FAILURE 1; POF1
- Intellectual disability
- High palate
- Abnormality of metabolism/homeostasis
- Sparse hair
- Autoimmunity
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
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
SYMPTOMATIC FORM OF FRAGILE X SYNDROME IN FEMALE CARRIER
Search interest in FMR1
Potential gene panels for FMR1 gene
FRX Panel
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the FMR1 gene.
More info about this panelFMR1 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the FMR1 gene.
More info about this panelFMR1 Sequence Analysis (Familial Mutation/Variant Analysis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the FMR1 gene.
More info about this panelFMR1 Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the FMR1 gene.
More info about this panelGeneAware Complete Panel Version 2 (Female) Panel
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 panelGeneAware Basic Panel Version 2 (Female) Panel
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 panelGeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel
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 panelGeneAware ACMG/ACOG Panel Version 2 (Female) Panel
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 panelSyndromic Autism Panel Panel
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 panelNGS XLID Panel Panel
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 panelFragile X syndrome Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the FMR1 gene.
More info about this panelFragile X syndrome Panel
By Center for Human Genetics, Inc
This panel specifically test the FMR1 gene.
More info about this panelFragile X Syndrome and FMR1-Related Disorders Panel
By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
This panel specifically test the FMR1 gene.
More info about this panelFragile X Panel
By Molecular Pathology Laboratory University of Pennsylvania Health System
This panel specifically test the FMR1 gene.
More info about this panelFragile X-associated tremor/ataxia syndrome Panel
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the FMR1 gene.
More info about this panelFragile X syndrome Panel
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the FMR1 gene.
More info about this panelFragile X-associated premature ovarian insufficiency Panel
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the FMR1 gene.
More info about this panelFMR1, CGG Repeats (includes Southern Blot if positive) Panel
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the FMR1 gene.
More info about this panelFMR1, Del-Dup Targeted Exonic Microarray Panel
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the FMR1 gene.
More info about this panelTest for FMR1-Related Disorders Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the FMR1 gene.
More info about this panelFragile X syndrome Panel
By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario
This panel specifically test the FMR1 gene.
More info about this panelFragile X - Related Disorders Panel
By Center for Genetics at Saint Francis Saint Francis Hospital
This panel specifically test the FMR1 gene.
More info about this panelFragile X syndrome Panel
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the FMR1 gene.
More info about this panelFMR1-Related Disorders Test Panel
By Genetics Laboratory - Department of Pathology Rush University Medical Center
This panel specifically test the FMR1 gene.
More info about this panelFMR1 Related Disorders Panel
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the FMR1 gene.
More info about this panelFMR1-Related Primary Ovarian Insufficiency (POI) Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
This panel specifically test the FMR1 gene.
More info about this panelFragile X Syndrome Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
This panel specifically test the FMR1 gene.
More info about this panelFragile X-Associated Tremor Ataxia Syndrome (FXTAS) Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
This panel specifically test the FMR1 gene.
More info about this panelX-Linked Intellectual Disabilities Deletion/Duplication Panel
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 panelX-linked Intellectual Disabilities Sequencing Panel
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 panelX-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel
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 panelFMR1-related disorders Panel
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories
This panel specifically test the FMR1 gene.
More info about this panelFragile X Syndrome, DNA Analysis, Prenatal With Southern Blot Analysis Panel
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the FMR1 gene.
More info about this panelFragile X Syndrome, PCR With Reflex to Southern Blot Panel
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the FMR1 gene.
More info about this panelFragile X, PCR and Southern blot Analysis Panel
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the FMR1 gene.
More info about this panelFRAGILE X (FMR1) Panel
By Molecular and Biochemical Genetics Laboratory Dayton Children's Hospital
This panel specifically test the FMR1 gene.
More info about this panelFragile X Panel
By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the FMR1 gene.
More info about this panelFMR1-Related Disorders Panel
By Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
This panel specifically test the FMR1 gene.
More info about this panelFMR1 CGG trinucleotide repeat testing Panel
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 panelFMR1 Deletion/duplication analysis Panel
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 panelNon-Specific Intellectual Disability Panel Panel
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 panelX-linked Non-Specific Intellectual Disability Panel Panel
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 panelAtaxia Exome Panel Panel
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 panelFragile X Syndrome Panel
By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the FMR1 gene.
More info about this panelFragile X Tremor-Ataxia Syndrome Panel
By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the FMR1 gene.
More info about this panelFragile X Syndrome Panel
By United States Air Force Molecular Diagnostic Laboratory United States Air Force
This panel specifically test the FMR1 gene.
More info about this panelFragile X Panel
By Michigan State University Clinical Genetics Laboratory Michigan State University
This panel specifically test the FMR1 gene.
More info about this panelFragile X syndrome Panel
By Molecular Genetics Columbia University
This panel specifically test the FMR1 gene.
More info about this panelFragile X Syndrome Panel
By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital
This panel specifically test the FMR1 gene.
More info about this panelFragile X syndrome Panel
By Human Genetics University Hospital Bern
This panel specifically test the FMR1 gene.
More info about this panelFragile X (FMR1) with Reflex to Methylation Analysis Panel
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the FMR1 gene.
More info about this panelFragile X (FMR1) with Reflex to Methylation Analysis, Fetal Panel
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the FMR1 gene.
More info about this panelGenetic Carrier Screen, (CF, FXS, and SMA) with Reflex to Methylation Panel
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 panelFragile X Mutation Panel
By Molecular Diagnostic Laboratory University of Alberta Fragile X Mutation that also includes the following genes: POF1B FMR1
More info about this panelFMR1 - Related Disorders Panel
By GENE Núcleo de Genética Médica de Minas Gerais
This panel specifically test the FMR1 gene.
More info about this panelAutism/Intellectual Disability/Multiple Anomalies Panel
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 panelFragile X Syndrome Panel
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the FMR1 gene.
More info about this panelFMR1-Related Disorders Panel
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the FMR1 gene.
More info about this panelAutismNext Panel
By Ambry Genetics AutismNext that also includes the following genes: SCN2A SLC6A8 SLC9A6 SMC1A CDKL5 SYNGAP1 TBR1 TCF4 MED12 TSC1
More info about this panelCustomNext: Neuro Panel
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 panelNeurodevelopment-Expanded Panel
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 panelIDNext Panel
By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2
More info about this panelFragile X Syndrome Panel
By Human Genetics University Hospital Bern
This panel specifically test the FMR1 gene.
More info about this panelFMR1. CGG expansion detection by PCR and TP-PCR if necessary Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FMR1 gene.
More info about this panelFMR1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FMR1 gene.
More info about this panelFMR1. MLPA testing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FMR1 gene.
More info about this panelFragile X Syndrome - FMR1 Asuragen-PCR Triplet Repeat Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the FMR1 gene.
More info about this panelFragile X repeat analysis Panel
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the FMR1 gene.
More info about this panelFragile X syndrome (FMR1 gene, msTP-PCR) Panel
By CGC Genetics
This panel specifically test the FMR1 gene.
More info about this panelFragile X tremor/ataxia syndrome (FRAXA, FMR1 gene, conventional PCR) Panel
By CGC Genetics
This panel specifically test the FMR1 gene.
More info about this panelFragile X tremor/ataxia syndrome (FMR1 gene, msTP-PCR) Panel
By CGC Genetics
This panel specifically test the FMR1 gene.
More info about this panelFragile X syndrome (sequence analysis of FMR1 gene) Panel
By CGC Genetics
This panel specifically test the FMR1 gene.
More info about this panelX-linked mental retardation (deletion/duplication analysis, multiple genes) Panel
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 panelFragile X syndrome (FRAXA, FMR1 gene, conventional PCR) Panel
By CGC Genetics
This panel specifically test the FMR1 gene.
More info about this panelPremature ovarian failure (FMR1 gene, conventional PCR) Panel
By CGC Genetics
This panel specifically test the FMR1 gene.
More info about this panelPremature ovarian failure (FMR1 gene, msTP-PCR) Panel
By CGC Genetics
This panel specifically test the FMR1 gene.
More info about this panelMental retardation, X-linked (NGS panel for 89 genes) Panel
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 panelPeriventricular nodular heterotopia (NGS panel of 8 genes) Panel
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 panelPeriventricular nodular heterotopia (NGS panel of 8 genes) Panel
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 panelFRAGILEX A SYNDROME Panel
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the FMR1 gene.
More info about this panelFMR1-Related Disorders Panel
By University of Iowa Diagnostic Laboratories University of Iowa Hospitals and Clinics
This panel specifically test the FMR1 gene.
More info about this panelFragile X Syndrome via FMR1 CGG Repeat Expansion Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the FMR1 gene.
More info about this panelX-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel
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 panelAutism Spectrum Disorders Sequencing Panel with CNV Detection Panel
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 panelMental retardation - different panels Panel
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 panelFMR1-Related Disorders Panel
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the FMR1 gene.
More info about this panelFMR1-Related Disorders Panel
By MGZ Medical Genetics Center
This panel specifically test the FMR1 gene.
More info about this panelMental Retardation and Dysmorphology - panels Panel
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 panelSyndromal Diseases - panels Panel
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 panelX-Linked Mental Retardation Panel
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 panelBrain Malformations / Neuronal Migration Disorders Panel
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 panelFMR1-Related Disorders Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the FMR1 gene.
More info about this panelFragile X syndrome Panel
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 panelfragile-X Panel
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 panelFragile X Panel
By GeneTech ATS GeneTech Private Limited
This panel specifically test the FMR1 gene.
More info about this panelFragile X tremor/ataxia syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the FMR1 gene.
More info about this panelPremature ovarian failure type 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the FMR1 gene.
More info about this panelAllNeuro panel Panel
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 panelFragile X syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the FMR1 gene.
More info about this panelfragile X DNA analysis Panel
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 panelFragile X Molecular Analysis Panel
By UW Cytogenetic Services University of Wisconsin - Madison / WSLH
This panel specifically test the FMR1 gene.
More info about this panelParkinson all Panel Panel
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 panelAtaxia and differential diagnoses Panel Panel
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
More info about this panelAtypical Parkinson syndrome Panel Panel
By CeGaT GmbH Atypical Parkinson syndrome Panel that also includes the following genes: ATXN2 SPG11 SYNJ1 TH FBXO7 DNAJC6 RAB39B ATP6AP2 ZFYVE26 SLC30A10
More info about this panelFragile-X Syndrome Panel
By Molecular Diagnostics Division Centre for Cellular and Molecular Biology
This panel specifically test the FMR1 gene.
More info about this panelTest for FMR1-Related Disorders Panel
By All Wales Genetics Laboratory Institute of Medical Genetics
This panel specifically test the FMR1 gene.
More info about this panelFMR1-Related Disorders Panel
By Medical Genetics Unit Sistemas Genómicos
This panel specifically test the FMR1 gene.
More info about this panelFragile X Syndrome Panel
By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the FMR1 gene.
More info about this panelFMR1-Related Disorders Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the FMR1 gene.
More info about this panelFragile X Syndrome, FMR1 Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the FMR1 gene.
More info about this panelMale Factor Infertility Panel
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
More info about this panelFragile X Syndrome Panel
By Asper Biogene Asper Biogene LLC
This panel specifically test the FMR1 gene.
More info about this panelFragile X syndrome(FRAXA), FMR1 Southern Panel
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the FMR1 gene.
More info about this panelFMR1-Related Disorders Panel
By Clinical Genomics Maastricht University Medical Centre
This panel specifically test the FMR1 gene.
More info about this panelXpansion Interpreter Panel
By Asuragen Clinical Laboratory Asuragen, Inc
This panel specifically test the FMR1 gene.
More info about this panelFragile X syndrome A Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the FMR1 gene.
More info about this panelFragile X Syndrome Panel
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the FMR1 gene.
More info about this panelFragile X by MS-PCR Panel
By Molecular Diagnosis Centre National University Hospital
This panel specifically test the FMR1 gene.
More info about this panelFamily Prep Screen Panel
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panelqChip Panel
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 panelqCarrier Plus Panel
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 panelFragile X syndrome A Panel
By MedGene
This panel specifically test the FMR1 gene.
More info about this panelFragile X syndrome: FMR1 gene screening Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the FMR1 gene.
More info about this panelFragile X: FMR1 Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the FMR1 gene.
More info about this panelFragile X: FMR1 Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the FMR1 gene.
More info about this panelFragile X: CGG Repeat Analysis Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the FMR1 gene.
More info about this panelPremature Ovarian Failure: FMR1 CGG Repeat Analysis Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the FMR1 gene.
More info about this panelFragile X-associated Tremor/Ataxia Syndrome (FXTAS): CGG Repeat Analysis Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the FMR1 gene.
More info about this panelInfertility Panel: Female (Chromosomes, FMR1-related POF) Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the FMR1 gene.
More info about this panelAutism Spectrum Panel: Complete Tier 1 Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the FMR1 gene.
More info about this panelAutism Spectrum Disorders: Tier 1 Cytogenetic and Molecular Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the FMR1 gene.
More info about this panelX-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel
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 panelAutism Spectrum Disorders: Tier 2 Panel Panel
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
More info about this panelPan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
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
More info about this panelAshkenazi Jewish Carrier Screen: Gene Sequencing Panel Panel
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
More info about this panelAshkenazi Jewish Carrier Screen: Targeted Mutation Panel Panel
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 panelAutism Spectrum Disorders: Tier 2 Deletion/Duplication Panel Panel
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 panelInheritest NGS, Society Guided Panel Panel
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
More info about this panelInheritest NGS, Ashkenazi Jewish Ancestry Panel Panel
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 panelFragile X Analysis, PCR and Southern Blot (symptomatic/fam hx) Panel
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the FMR1 gene.
More info about this panelFragile X Analysis, PCR with Reflex Southern Blot (no fam hx) Panel
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the FMR1 gene.
More info about this panelInheritest NGS, Comprehensive Panel
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 panelAutism NGS Panel Panel
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 panelIntellectual Disability NGS Panel Panel
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 panelXLID NGS Panel Panel
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 panelFragile X Tremor/Ataxia Syndrome Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FMR1 gene.
More info about this panelFMR1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FMR1 gene.
More info about this panelXSense(R), Fragile X with Reflex Panel
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the FMR1 gene.
More info about this panelXSense(R), Fragile X with Reflex (NY) Panel
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the FMR1 gene.
More info about this panelAtaxia Panel Panel
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 panelX-linked Intellectual Disability Panel Panel
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 panelFragile X syndrome analysis Panel
By Insight Medical Genetics
This panel specifically test the FMR1 gene.
More info about this panelFragile X syndrome Panel
By Bioarray
This panel specifically test the FMR1 gene.
More info about this panelFragile X syndrome Panel
By Bioarray
This panel specifically test the FMR1 gene.
More info about this panelFragile X syndrome Panel
By Bioarray
This panel specifically test the FMR1 gene.
More info about this panelFragile X syndrome and associated disorders Panel
By Genomic Engenharia Molecular
This panel specifically test the FMR1 gene.
More info about this panelFragile X Syndrome Panel
By Tulane Hayward Genetics Center Molecular Diagnostics Lab Tulane University
This panel specifically test the FMR1 gene.
More info about this panelExome Panel
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 panelRapid microarray (CGH and SNP) Panel
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 panelHigh-Resolution Rapid Microarray (CGH and SNP) Panel
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 panelFragile X mutation analysis by PCR Panel
By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics
This panel specifically test the FMR1 gene.
More info about this panelFRAGILE X SYNDROME (FRAX) Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the FMR1 gene.
More info about this panelFragile X Syndrome, Sequencing FMR1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the FMR1 gene.
More info about this panelAutism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel
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 panelFragile X syndrome Panel
By Labor Dr. Wisplinghoff
This panel specifically test the FMR1 gene.
More info about this panelPremature ovarian failure 1 Panel
By Labor Dr. Wisplinghoff
This panel specifically test the FMR1 gene.
More info about this panelFragile X tremor/ataxia syndrome Panel
By Labor Dr. Wisplinghoff
This panel specifically test the FMR1 gene.
More info about this panelFragile X Syndrome: FMR1 analysis for FRAXA locus (CGG repeats) Panel
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 panelplanTrue Extended Panel
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 panelPhosphorus Female Infertility Panel Panel
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 panelPremature Ovarian Failure: FMR1 CGG Repeat Analysis Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the FMR1 gene.
More info about this panelFemale infertility genetic testing Panel
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 panelPremature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis Panel
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 panelFragile X syndrome Panel
By Genomic Laboratory Semmelweis University
This panel specifically test the FMR1 gene.
More info about this panelFragile X syndrome Panel
By Tehran Medical Genetics Laboratory
This panel specifically test the FMR1 gene.
More info about this panelFragile X syndrome Panel
By Genetic Services Unit National Institute of Biomedical Genomics
This panel specifically test the FMR1 gene.
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