Fragile X Syndrome; Fxs

Description

Fragile X syndrome is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw. In most cases, the disorder is caused by the unstable expansion of a CGG repeat in the FMR1 gene and abnormal methylation, which results in suppression of FMR1 transcription and decreased protein levels in the brain (Devys et al., 1993). ReviewsFragile X syndrome accounts for about one-half of cases of X-linked mental retardation and is the second most common cause of mental impairment after trisomy 21 (OMIM ) (Rousseau et al., 1995).McCabe et al. (1999) summarized the proceedings of a workshop on the fragile X syndrome held in December 1998.Jacquemont et al. (2007) provided a review of fragile X syndrome, which they characterized as a neurodevelopmental disorder, and FXTAS, which they characterized as a neurodegenerative disorder.

Clinical Features

Top most frequent phenotypes and symptoms related to Fragile X Syndrome; Fxs

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Pica
  • Scoliosis
  • Strabismus
  • Muscular hypotonia
  • Cognitive impairment
  • Nevus
  • Feeding difficulties
And another 73 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available Fragile X Syndrome; Fxs have a estimated birth prevalence of 2.4 per 100k worldwide.


Mendelian

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Fragile X Syndrome; Fxs Recommended genes panels

Panel Name, Specifity and genes Tested/covered
FRX.

By Molecular Diagnostic Laboratory Kingston General Hospital in Canada.

FMR1
Specificity
100 %
Genes
100 %
FMR1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

FMR1
Specificity
100 %
Genes
100 %
FMR1 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

FMR1
Specificity
100 %
Genes
100 %
FMR1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

FMR1
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Basic Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, HBB, CFTR, DMD, SMN1, HBA1, HBA2
Specificity
15 %
Genes
100 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, ATP7B, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC, GBA , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
GeneAware ACMG/ACOG Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, HBB, SMPD1, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DMD, SMN1, HBA1, HBA2, MCOLN1
Specificity
7 %
Genes
100 %
Syndromic Autism Panel.

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

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

View the complete list with 63 more genes
Specificity
2 %
Genes
100 %
NGS XLID Panel.

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

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, ARX , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
100 %
Fragile X syndrome.

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

FMR1
Specificity
100 %
Genes
100 %
Fragile X syndrome.

By Center for Human Genetics, Inc in United States.

FMR1
Specificity
100 %
Genes
100 %
Fragile X Syndrome and FMR1-Related Disorders.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States.

FMR1
Specificity
100 %
Genes
100 %
Fragile X.

By Molecular Pathology Laboratory Ohio State University in United States.

FMR1
Specificity
100 %
Genes
100 %
Fragile X-associated tremor/ataxia syndrome.

By Molecular Genetics Laboratory North York General Hospital in Canada.

FMR1
Specificity
100 %
Genes
100 %
Fragile X syndrome.

By Molecular Genetics Laboratory North York General Hospital in Canada.

FMR1
Specificity
100 %
Genes
100 %
Fragile X-associated premature ovarian insufficiency.

By Molecular Genetics Laboratory North York General Hospital in Canada.

FMR1
Specificity
100 %
Genes
100 %
FMR1, CGG Repeats (includes Southern Blot if positive).

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

FMR1
Specificity
100 %
Genes
100 %
FMR1, Del-Dup Targeted Exonic Microarray.

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

FMR1
Specificity
100 %
Genes
100 %
Test for FMR1-Related Disorders.

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

FMR1
Specificity
100 %
Genes
100 %
Fragile X syndrome.

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

FMR1
Specificity
100 %
Genes
100 %
Fragile X - Related Disorders.

By Center for Genetics at Saint Francis Saint Francis Hospital in United States.

FMR1
Specificity
100 %
Genes
100 %
Fragile X syndrome.

By Molecular Diagnostic Laboratory Diagnostic Services of Manitoba, Health Sciences Centre site in Canada.

FMR1
Specificity
100 %
Genes
100 %
FMR1-Related Disorders Test.

By Genetics Laboratory - Department of Pathology Rush University Medical Center in United States.

FMR1
Specificity
100 %
Genes
100 %
FMR1 Related Disorders.

By Molecular Diagnostic Laboratory Barnes Jewish Hospital in United States.

FMR1
Specificity
100 %
Genes
100 %
FMR1-Related Primary Ovarian Insufficiency (POI).

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

FMR1
Specificity
100 %
Genes
100 %
Fragile X Syndrome.

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

FMR1
Specificity
100 %
Genes
100 %
Fragile X-Associated Tremor Ataxia Syndrome (FXTAS).

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

FMR1
Specificity
100 %
Genes
100 %
Autsim Panel.

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

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

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %
X-Linked Intellectual Disabilities Deletion/Duplication.

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

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
X-linked Intellectual Disabilities Sequencing.

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

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication.

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

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, SLC9A6, BCOR, NDUFA1, ARX, CDKL5, DMD , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
100 %
FMR1-related disorders.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.

FMR1
Specificity
100 %
Genes
100 %
Fragile X Syndrome, DNA Analysis, Prenatal With Southern Blot Analysis.

By Molecular Diagnostic Laboratory LabCorp in United States.

FMR1
Specificity
100 %
Genes
100 %
Fragile X Syndrome, PCR With Reflex to Southern Blot.

By Molecular Diagnostic Laboratory LabCorp in United States.

FMR1
Specificity
100 %
Genes
100 %
Fragile X, PCR and Southern blot Analysis.

By Molecular Diagnostic Laboratory LabCorp in United States.

FMR1
Specificity
100 %
Genes
100 %
FRAGILE X (FMR1).

By Molecular and Biochemical Genetics Laboratory Dayton Children's Hospital in United States.

FMR1
Specificity
100 %
Genes
100 %
Fragile X.

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

FMR1
Specificity
100 %
Genes
100 %
FMR1-Related Disorders.

By Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation in United States.

FMR1
Specificity
100 %
Genes
100 %
FMR1 CGG trinucleotide repeat testing.

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

FMR1
Specificity
100 %
Genes
100 %
FMR1 Deletion/duplication analysis.

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

FMR1
Specificity
100 %
Genes
100 %
Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, UBE3A, HSD17B10, OCRL, HPRT1, NHS, MECP2, IDH2, STXBP1, TUBA1A, TUSC3, ALG6, D2HGDH, PDHA1, MAOA, ACSL4, SLC9A6, BCOR, ALDH5A1, L2HGDH , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
X-linked Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, HSD17B10, OCRL, HPRT1, NHS, MECP2, PDHA1, MAOA, ACSL4, SLC9A6, BCOR, SLC6A8, ARX, CDKL5, PCDH19, PLP1, SMC1A, L1CAM, DCX, PQBP1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Fragile X Syndrome.

By Genetics Laboratory Shodair Children's Hospital in United States.

FMR1
Specificity
100 %
Genes
100 %
Fragile X Tremor-Ataxia Syndrome.

By Genetics Laboratory Shodair Children's Hospital in United States.

FMR1
Specificity
100 %
Genes
100 %
Fragile X Syndrome.

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

FMR1
Specificity
100 %
Genes
100 %
Fragile X.

By Michigan State University Clinical Genetics Laboratory Michigan State University in United States.

FMR1
Specificity
100 %
Genes
100 %
Fragile X syndrome.

By Molecular Genetics Rabin Medical Center in Israel.

FMR1
Specificity
100 %
Genes
100 %
Fragile X Syndrome.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

FMR1
Specificity
100 %
Genes
100 %
Fragile X syndrome.

By Human Genetics Ruhr University in Germany.

FMR1
Specificity
100 %
Genes
100 %
Fragile X (FMR1) with Reflex to Methylation Analysis.

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

FMR1
Specificity
100 %
Genes
100 %
Fragile X (FMR1) with Reflex to Methylation Analysis, Fetal.

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

FMR1
Specificity
100 %
Genes
100 %
Fragile X Mutation.

By Molecular Diagnostic Laboratory Nebraska Medicine in United States.

FMR1, POF1B
Specificity
50 %
Genes
100 %
FMR1 - Related Disorders.

By GENE Núcleo de Genética Médica de Minas Gerais in Brazil.

FMR1
Specificity
100 %
Genes
100 %
Autism/Intellectual Disability/Multiple Anomalies.

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

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

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Fragile X Syndrome.

By Molecular Diagnostic Laboratory University of Alberta in Canada.

FMR1
Specificity
100 %
Genes
100 %
FMR1-Related Disorders.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

FMR1
Specificity
100 %
Genes
100 %
AutismNext.

By Ambry Genetics in United States.

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

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
CustomNext: Neuro.

By Ambry Genetics in United States.

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

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
Neurodevelopment-Expanded.

By Ambry Genetics in United States.

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

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
IDNext.

By Ambry Genetics in United States.

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

View the complete list with 120 more genes
Specificity
1 %
Genes
100 %
Fragile X Syndrome.

By Human Genetics University Hospital Bern in Switzerland.

FMR1
Specificity
100 %
Genes
100 %
FMR1. CGG expansion detection by PCR and TP-PCR if necessary.

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

FMR1
Specificity
100 %
Genes
100 %
FMR1. Complete sequencing.

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

FMR1
Specificity
100 %
Genes
100 %
FMR1. MLPA testing.

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

FMR1
Specificity
100 %
Genes
100 %
Fragile X Syndrome - FMR1 Asuragen-PCR Triplet Repeat.

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

FMR1
Specificity
100 %
Genes
100 %
Fragile X repeat analysis.

By Molecular Genetics Laboratory Children's Mercy Hospital and Clinics in United States.

FMR1
Specificity
100 %
Genes
100 %
Fragile X syndrome (FMR1 gene, msTP-PCR).

By CGC Genetics in Portugal.

FMR1
Specificity
100 %
Genes
100 %
Fragile X tremor/ataxia syndrome (FRAXA, FMR1 gene, conventional PCR).

By CGC Genetics in Portugal.

FMR1
Specificity
100 %
Genes
100 %
Fragile X tremor/ataxia syndrome (FMR1 gene, msTP-PCR).

By CGC Genetics in Portugal.

FMR1
Specificity
100 %
Genes
100 %
Fragile X syndrome (sequence analysis of FMR1 gene).

By CGC Genetics in Portugal.

FMR1
Specificity
100 %
Genes
100 %
X-linked mental retardation (deletion/duplication analysis, multiple genes).

By CGC Genetics in Portugal.

FMR1, ACSL4, SLC6A8, ARX, DCX, PQBP1, PAK3, OPHN1, HUWE1, AGTR2, AFF2, TSPAN7, GDI1, RPS6KA3, ARHGEF6, IL1RAPL1
Specificity
7 %
Genes
100 %
Fragile X syndrome (FRAXA, FMR1 gene, conventional PCR).

By CGC Genetics in Portugal.

FMR1
Specificity
100 %
Genes
100 %
Premature ovarian failure (FMR1 gene, conventional PCR).

By CGC Genetics in Portugal.

FMR1
Specificity
100 %
Genes
100 %
Premature ovarian failure (FMR1 gene, msTP-PCR).

By CGC Genetics in Portugal.

FMR1
Specificity
100 %
Genes
100 %
Mental retardation, X-linked (NGS panel for 89 genes).

By CGC Genetics in Portugal.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, SLC6A8 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Periventricular nodular heterotopia (NGS panel of 8 genes).

By CGC Genetics in Portugal.

FMR1, ARFGEF2, FLNA, FAT4, NEDD4L, ERMARD, LRP2, DCHS1
Specificity
13 %
Genes
100 %
Periventricular nodular heterotopia (NGS panel of 8 genes).

By CGC Genetics in Portugal.

FMR1, ARFGEF2, FLNA, FAT4, NEDD4L, ERMARD, LRP2, DCHS1
Specificity
13 %
Genes
100 %
FRAGILEX A SYNDROME.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

FMR1
Specificity
100 %
Genes
100 %
FMR1-Related Disorders.

By University of Iowa Diagnostic Laboratories University of Iowa Hospitals and Clinics in United States.

FMR1
Specificity
100 %
Genes
100 %
Fragile X Syndrome via FMR1 CGG Repeat Expansion.

By PreventionGenetics PreventionGenetics in United States.

FMR1
Specificity
100 %
Genes
100 %
X-Linked Intellectual Disability Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FMR1, HSD17B10, NDP, HPRT1, NHS, MECP2, OTC, PDHA1, GK, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, TMLHE, SLC6A8, ARX, CDKL5, IDS , (...)

View the complete list with 108 more genes
Specificity
1 %
Genes
100 %
Autism Spectrum Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

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

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
FMR1-Related Disorders.

By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada.

FMR1
Specificity
100 %
Genes
100 %
FMR1-Related Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1
Specificity
100 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

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

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

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

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
X-Linked Mental Retardation.

By MGZ Medical Genetics Center in Germany.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, SLC6A8 , (...)

View the complete list with 93 more genes
Specificity
1 %
Genes
100 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

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

View the complete list with 246 more genes
Specificity
1 %
Genes
100 %
FMR1-Related Disorders.

By Bioscientia GmbH Center for Human Genetics in Germany.

FMR1
Specificity
100 %
Genes
100 %
Fragile X syndrome.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

FMR1, AFF2
Specificity
50 %
Genes
100 %
fragile-X.

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

FMR1
Specificity
100 %
Genes
100 %
Fragile X.

By GeneTech ATS GeneTech Private Limited in India.

FMR1
Specificity
100 %
Genes
100 %
Fragile X tremor/ataxia syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FMR1
Specificity
100 %
Genes
100 %
Premature ovarian failure type 1.

By Centogene AG - the Rare Disease Company in Germany.

FMR1
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

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

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Fragile X syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FMR1
Specificity
100 %
Genes
100 %
fragile X DNA analysis.

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

FMR1
Specificity
100 %
Genes
100 %
Fragile X Molecular Analysis.

By UW Cytogenetic Services University of Wisconsin - Madison / WSLH in United States.

FMR1
Specificity
100 %
Genes
100 %
Parkinson all Panel.

By CeGaT GmbH in Germany.

FMR1, PTEN, COMT, POLG, PANK2, SPR, HTRA2, GRN, PARK7, PINK1, PRKN, GBA, TH, PLA2G6, ZFYVE26, SPG11, MAPT, ATXN2, ATXN3, GCH1 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Atypical Parkinson syndrome Panel.

By CeGaT GmbH in Germany.

FMR1, COMT, POLG, GRN, TH, PLA2G6, ZFYVE26, SPG11, MAPT, C9orf72, ATXN2, ATXN3, GCH1, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, RAB39B, FTL , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Fragile-X Syndrome.

By Molecular Diagnostics Division Centre for Cellular and Molecular Biology in India.

FMR1
Specificity
100 %
Genes
100 %
Test for FMR1-Related Disorders.

By All Wales Genetics Laboratory Institute of Medical Genetics in United Kingdom.

FMR1
Specificity
100 %
Genes
100 %
FMR1-Related Disorders.

By Medical Genetics Unit Sistemas Genómicos in Spain.

FMR1
Specificity
100 %
Genes
100 %
Fragile X Syndrome.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

FMR1
Specificity
100 %
Genes
100 %
FMR1-Related Disorders.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

FMR1
Specificity
100 %
Genes
100 %
Fragile X Syndrome, FMR1.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

FMR1
Specificity
100 %
Genes
100 %
Male Factor Infertility.

By Asper Biogene Asper Biogene LLC in Estonia.

FMR1, CFTR, GNRHR, DNAH11, DNAH5, DNAI1, FSHB, INSL3, UTP14C, USP26, TEKT2, RBMXL2, PRM3, PRM2, PRM1, PRDM9, NLRP14, ESR2, DDX25, XIST , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Fragile X Syndrome.

By Asper Biogene Asper Biogene LLC in Estonia.

FMR1
Specificity
100 %
Genes
100 %
Fragile X syndrome(FRAXA), FMR1 Southern.

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

FMR1
Specificity
100 %
Genes
100 %
FMR1-Related Disorders.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

FMR1
Specificity
100 %
Genes
100 %
Xpansion Interpreter.

By Asuragen Clinical Laboratory Asuragen, Inc in United States.

FMR1
Specificity
100 %
Genes
100 %
Fragile X syndrome A.

By Praxis fuer Humangenetik Wien in Austria.

FMR1
Specificity
100 %
Genes
100 %
Fragile X Syndrome.

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

FMR1
Specificity
100 %
Genes
100 %
Fragile X by MS-PCR.

By Molecular Diagnosis Centre National University Hospital in Singapore.

FMR1
Specificity
100 %
Genes
100 %
Family Prep Screen.

By Counsyl in United States.

F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

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

View the complete list with 106 more genes
Specificity
1 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
Fragile X syndrome A.

By MedGene in Slovakia.

FMR1
Specificity
100 %
Genes
100 %
Fragile X syndrome: FMR1 gene screening.

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

FMR1
Specificity
100 %
Genes
100 %
Fragile X: FMR1 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1
Specificity
100 %
Genes
100 %
Fragile X: FMR1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1
Specificity
100 %
Genes
100 %
Fragile X: CGG Repeat Analysis.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1
Specificity
100 %
Genes
100 %
Premature Ovarian Failure: FMR1 CGG Repeat Analysis.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1
Specificity
100 %
Genes
100 %
Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): CGG Repeat Analysis.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1
Specificity
100 %
Genes
100 %
Infertility Panel: Female (Chromosomes, FMR1-related POF).

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1
Specificity
100 %
Genes
100 %
Autism Spectrum Panel: Complete Tier 1.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1
Specificity
100 %
Genes
100 %
Autism Spectrum Disorders: Tier 1 Cytogenetic and Molecular Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1
Specificity
100 %
Genes
100 %
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, ARX, CDKL5 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
100 %
Autism Spectrum Disorders: Tier 2 Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

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

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
100 %
Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, BCKDHB, CLRN1, PCDH15, DLD, SMPD1, G6PC, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, FKTN, NEB, MCOLN1, ABCC8, TMEM216
Specificity
5 %
Genes
100 %
Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, BCKDHB, CLRN1, PCDH15, DLD, SMPD1, G6PC, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, FKTN, NEB, MCOLN1, ABCC8, TMEM216
Specificity
5 %
Genes
100 %
Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

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

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Inheritest NGS, Society Guided Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, HBB, SMPD1, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, MCOLN1
Specificity
9 %
Genes
100 %
Inheritest NGS, Ashkenazi Jewish Ancestry Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ATP7B, BCKDHA, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Fragile X Analysis, PCR and Southern Blot (symptomatic/fam hx).

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1
Specificity
100 %
Genes
100 %
Fragile X Analysis, PCR with Reflex Southern Blot (no fam hx).

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1
Specificity
100 %
Genes
100 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ACADM, AGL, ACADVL, ACAT1, ALDOB, ALPL, HLCS, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPS1, CPT2, GNPTAB , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
100 %
Autism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 80 more genes
Specificity
1 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
XLID NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %
Fragile X Tremor/Ataxia Syndrome.

By Fulgent Genetics Fulgent Genetics in United States.

FMR1
Specificity
100 %
Genes
100 %
FMR1.

By Fulgent Genetics Fulgent Genetics in United States.

FMR1
Specificity
100 %
Genes
100 %
XSense(R), Fragile X with Reflex.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

FMR1
Specificity
100 %
Genes
100 %
XSense(R), Fragile X with Reflex (NY).

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

FMR1
Specificity
100 %
Genes
100 %
Ataxia Panel.

By Blueprint Genetics in Finland.

FMR1, ABHD12, TWNK, PRKCG, PAX6, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, POLG, NDUFS4, AFG3L2 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
X-linked Intellectual Disability Panel.

By Blueprint Genetics in Finland.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, SLC6A8 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
100 %
Fragile X syndrome analysis.

By Insight Medical Genetics in United States.

FMR1
Specificity
100 %
Genes
100 %
Fragile X syndrome.

By Bioarray in Spain.

FMR1
Specificity
100 %
Genes
100 %
Fragile X syndrome.

By Bioarray in Spain.

FMR1
Specificity
100 %
Genes
100 %
Fragile X syndrome.

By Bioarray in Spain.

FMR1
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
Fragile X syndrome and associated disorders.

By Genomic Engenharia Molecular in Brazil.

FMR1
Specificity
100 %
Genes
100 %
Fragile X Syndrome.

By Tulane Hayward Genetics Center Molecular Diagnostics Lab Tulane University in United States.

FMR1
Specificity
100 %
Genes
100 %
Exome.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil.

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

View the complete list with 46 more genes
Specificity
2 %
Genes
100 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

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

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

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

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
Fragile X mutation analysis by PCR.

By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics in India.

FMR1
Specificity
100 %
Genes
100 %
Fragile X Syndrome, Sequencing FMR1 Gene.

By Reference Laboratory Genetics in Spain.

FMR1
Specificity
100 %
Genes
100 %
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes.

By Reference Laboratory Genetics in Spain.

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

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Fragile X syndrome.

By Labor Dr. Wisplinghoff in Germany.

FMR1
Specificity
100 %
Genes
100 %
Premature ovarian failure 1.

By Labor Dr. Wisplinghoff in Germany.

FMR1
Specificity
100 %
Genes
100 %
Fragile X tremor/ataxia syndrome.

By Labor Dr. Wisplinghoff in Germany.

FMR1
Specificity
100 %
Genes
100 %
Fragile X Syndrome: FMR1 analysis for FRAXA locus (CGG repeats).

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India.

FMR1
Specificity
100 %
Genes
100 %
planTrue Extended.

By True Health Diagnostics in United States.

FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1 , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
100 %
Phosphorus Female Infertility Panel.

By Phosphorus Diagnostics LLC in United States.

F2, F5, FMR1, FOXL2, CYP11A1, GALT, CYP17A1, LHCGR, KISS1R, GNRHR, NR5A1, GNAS, PROS1, PROC, CYP19A1, NOBOX, BMP15, FSHR, FSHB, SERPINC1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Premature Ovarian Failure: FMR1 CGG Repeat Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

FMR1
Specificity
100 %
Genes
100 %
Female infertility genetic testing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

FMR1, LHCGR, BMP15, FSHR, LHB, ZP1
Specificity
17 %
Genes
100 %
Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

FMR1, FOXL2, GALT, CYP17A1, EIF2B5, LMNA, EIF2B3, EIF2B2, LHCGR, POR, NR5A1, CYP19A1, HFM1, PSMC3IP, FIGLA, NOBOX, BMP15, FSHR, POF1B, GDF9 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Fragile X syndrome.

By Genomic Laboratory Semmelweis University in Hungary.

FMR1
Specificity
100 %
Genes
100 %
Fragile X syndrome.

By Tehran Medical Genetics Laboratory in Iran.

FMR1
Specificity
100 %
Genes
100 %

Alternate names

Fragile X Syndrome; Fxs Is also known as fragile x mental retardation syndrome, mental retardation, x-linked, associated with marxq28, x-linked mental retardation and macroorchidism, marker x syndrome, martin-bell syndrome;fraxa syndrome; fxs; frax syndrome; martin-bell syndrome.



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