MRE11 gene related symptoms and diseases

All the information presented here about the MRE11 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MRE11 gene

Symptoms // Phenotype % Cases
Ataxia Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Chorea Uncommon - Between 30% and 50% cases
Telangiectasia Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with MRE11 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Gaze-evoked nystagmus
  • Dysdiadochokinesis
  • Oculomotor apraxia
  • Frequent falls
  • Cerebellar vermis hypoplasia
  • Neoplasm
  • Dysmetria
  • Dystonia

And 58 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to MRE11 gene

Here you will find a list of rare diseases related to the MRE11. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ATAXIA-TELANGIECTASIA-LIKE DISORDER


Alternate names

ATAXIA-TELANGIECTASIA-LIKE DISORDER Is also known as atld

Most common symptoms of ATAXIA-TELANGIECTASIA-LIKE DISORDER

  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Delayed speech and language development
  • Dysarthria


More info about ATAXIA-TELANGIECTASIA-LIKE DISORDER

SOURCES: ORPHANET

ATAXIA-OCULOMOTOR APRAXIA TYPE 1


Alternate names

ATAXIA-OCULOMOTOR APRAXIA TYPE 1 Is also known as aoa1, atld

Description

Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia (ARCA; see this term), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.

Most common symptoms of ATAXIA-OCULOMOTOR APRAXIA TYPE 1

  • Ataxia
  • Nystagmus
  • Neoplasm
  • Peripheral neuropathy
  • Dysarthria


More info about ATAXIA-OCULOMOTOR APRAXIA TYPE 1

SOURCES: OMIM ORPHANET

HEREDITARY BREAST AND OVARIAN CANCER SYNDROME


Description

Breast cancer (BC) is the most common cancer in women, accounting for 25% of all new cases of cancer. Most BC cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition.

Most common symptoms of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME

  • Neoplasm
  • Carcinoma
  • Melanoma
  • Breast carcinoma
  • Ovarian neoplasm


More info about HEREDITARY BREAST AND OVARIAN CANCER SYNDROME

SOURCES: OMIM ORPHANET

NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER


Alternate names

NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER Is also known as microcephaly and chromosomal instability without immunodeficiency, nbsld, microcephaly and spontaneous chromosome instability without immunodeficiency, nbs-like disorder, rad50 deficiency

Description

Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.

Most common symptoms of NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Ataxia
  • Spasticity


More info about NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER

SOURCES: MESH ORPHANET OMIM


Potential gene panels for MRE11 gene

Hereditary Brain, CNS, PNS Cancer Panel Panel

United States.

By Baylor Miraca Genetics Laboratories Hereditary Brain, CNS, PNS Cancer Panel that also includes the following genes: TP53 VHL SUFU PALB2 ALK APC MEN1 MLH1 MRE11 MSH2

More info about this panel

Hereditary Brain, CNS, PNS Cancer Panel Panel

United States.

By Baylor Miraca Genetics Laboratories Hereditary Brain, CNS, PNS Cancer Panel that also includes the following genes: TP53 VHL SUFU PALB2 ALK APC MEN1 MLH1 MRE11 MSH2

More info about this panel

Comprehensive Hereditary Cancer Panel Panel

United States.

By Baylor Miraca Genetics Laboratories Comprehensive Hereditary Cancer Panel that also includes the following genes: RUNX1 SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM

More info about this panel

Ataxia, Supplemental Recessive Evaluation Panel

United States.

By Athena Diagnostics Inc Ataxia, Supplemental Recessive Evaluation that also includes the following genes: SACS TTPA APTX COQ8A SYNE1 TDP1 SYT14 SIL1 FLVCR1 ANO10

More info about this panel

Ataxia, Complete Recessive Evaluation Panel

United States.

By Athena Diagnostics Inc Ataxia, Complete Recessive Evaluation that also includes the following genes: SACS TTPA APTX COQ8A SYNE1 TDP1 SYT14 SIL1 FLVCR1 ANO10

More info about this panel

Ataxia, Comprehensive Evaluation Panel

United States.

By Athena Diagnostics Inc Ataxia, Comprehensive Evaluation that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SLC1A3 SPTBN2 TBP TTPA

More info about this panel

Inherited Cancer Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Inherited Cancer Panel that also includes the following genes: BLM SDHB BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 TSC1 TSC2

More info about this panel

VisaSeq Breast and GYN Cancer Panel Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta VisaSeq Breast and GYN Cancer Panel that also includes the following genes: BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 BRIP1 ABRAXAS1 PALB2 FANCC

More info about this panel

VistaSeq Breast Cancer Panel Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta VistaSeq Breast Cancer Panel that also includes the following genes: BRCA1 BRCA2 STK11 TP53 CDH1 BRIP1 ABRAXAS1 PALB2 MRE11 MUTYH

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

MRE11A Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the MRE11 gene.

More info about this panel

Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication that also includes the following genes: SH2D1A BTK CD40 CD40LG UNG VAV1 AICDA BLNK CD19 CD79A

More info about this panel

Hereditary Cancer Panel - Breast/Ovarian/Uterine28 Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel - Breast/Ovarian/Uterine28 that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 XRCC2 DICER1 CDH1 BRIP1

More info about this panel

Hereditary Cancer Panel- Comprehensive63 Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel- Comprehensive63 that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 STK11

More info about this panel

BreastNext Panel

United States.

By Ambry Genetics BreastNext that also includes the following genes: BRCA1 BRCA2 TP53 CDH1 BRIP1 PALB2 MRE11 MUTYH NBN NF1

More info about this panel

CancerNext-Expanded Panel

United States.

By Ambry Genetics CancerNext-Expanded that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1

More info about this panel

CancerNext Panel

United States.

By Ambry Genetics CancerNext that also includes the following genes: BMPR1A BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 CDK4

More info about this panel

CustomNext: Cancer Panel

United States.

By Ambry Genetics CustomNext: Cancer that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1

More info about this panel

MRE11A gene sequence and deletion/duplication Panel

United States.

By Ambry Genetics

This panel specifically test the MRE11 gene.

More info about this panel

OvaNext Panel

United States.

By Ambry Genetics OvaNext that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 BRIP1 PALB2

More info about this panel

TumorNext-HRD+CancerNext Panel

United States.

By Ambry Genetics TumorNext-HRD+CancerNext that also includes the following genes: BMPR1A BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 CDK4

More info about this panel

TumorNext-Lynch+CancerNext Panel

United States.

By Ambry Genetics TumorNext-Lynch+CancerNext that also includes the following genes: BMPR1A BRAF BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1

More info about this panel

TumorNext-HRD+OvaNext Panel

United States.

By Ambry Genetics TumorNext-HRD+OvaNext that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 BRIP1 PALB2

More info about this panel

TumorNext-HRD Panel

United States.

By Ambry Genetics TumorNext-HRD that also includes the following genes: BRCA1 BRCA2 BRIP1 PALB2 MRE11 NBN ATM BARD1 RAD51C RAD51D

More info about this panel

TumorNext-Lynch+OvaNext Panel

United States.

By Ambry Genetics TumorNext-Lynch+OvaNext that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 BRIP1 PALB2

More info about this panel

Ataxia telangiectasia like disorder (sequence analysis of MRE11A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MRE11 gene.

More info about this panel

Hereditary ataxias (NGS panel for 44 genes) Panel

Portugal.

By CGC Genetics Hereditary ataxias (NGS panel for 44 genes) that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA VAMP1 VLDLR CACNA1A CACNB4 ELOVL4 ABHD12

More info about this panel

Hereditary Ovarian Cancer Panel

Poland.

By Laboratory of Genetics BioTe21 Adam Master Hereditary Ovarian Cancer that also includes the following genes: BRCA1 BRCA2 TP53 BRIP1 MRE11 NBN BARD1 RAD50 RAD51 RAD51C

More info about this panel

Cancer Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Hyper IgM Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hyper IgM Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A BTK CD40 CD40LG UNG AICDA MRE11 NBN NFKBIA ATM

More info about this panel

Breast Cancer - Comprehensive Risk Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Breast Cancer - Comprehensive Risk Sequencing Panel with CNV Detection that also includes the following genes: BRCA1 BRCA2 STK11 TP53 CDH1 BRIP1 PALB2 MRE11 MUTYH NBN

More info about this panel

Chromosomal Instability Syndromes Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Chromosomal Instability Syndromes Sequencing Panel with CNV Detection that also includes the following genes: BLM WRN ERCC6 ERCC8 MRE11 NBN ATM RECQL4

More info about this panel

Ataxia-Telangiectasia-Like Disorder via MRE11/MRE11A Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MRE11 gene.

More info about this panel

Hereditary Ovarian Cancer Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Ovarian Cancer Sequencing Panel with CNV Detection that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 DICER1 CDH1 BRIP1 PALB2

More info about this panel

Hereditary Breast and Ovarian Cancer - Expanded and Lynch Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Breast and Ovarian Cancer - Expanded and Lynch Syndrome Sequencing Panel with CNV Detection that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 XRCC2 DICER1 CDH1 BRIP1

More info about this panel

Microcephaly and Dwarfism Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Microcephaly and Dwarfism that also includes the following genes: BRAT1 NHEJ1 MRE11

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Microcephaly MRE11A related Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MRE11 gene.

More info about this panel

Microcephaly MRE11A related Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MRE11 gene.

More info about this panel

Ataxia telangiectasia like disorder Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MRE11 gene.

More info about this panel

Breast ovarian cancer panel Panel

Germany.

By Centogene AG - the Rare Disease Company Breast ovarian cancer panel that also includes the following genes: STK11 TP53 CDH1 BRIP1 PALB2 MRE11 MSH6 NBN ATM BARD1

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

Breast and Ovarian Cancer - extended Diagnostic Panel Panel

Germany.

By CeGaT GmbH Breast and Ovarian Cancer - extended Diagnostic Panel that also includes the following genes: SDHB SDHC SDHD BRCA1 BRCA2 STK11 EPCAM TP53 XRCC2 CDH1

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

More info about this panel

Single gene testing MRE11 Panel

Germany.

By CeGaT GmbH

This panel specifically test the MRE11 gene.

More info about this panel

Bone marrow failure syndromes Panel Panel

Germany.

By CeGaT GmbH Bone marrow failure syndromes Panel that also includes the following genes: BRCA2 SRP72 STX11 STXBP2 TERC TERT TINF2 WAS XRCC2 NHP2

More info about this panel

Syndromes with immunodeficiency Panel Panel

Germany.

By CeGaT GmbH Syndromes with immunodeficiency Panel that also includes the following genes: RMRP RUNX2 BLM SMARCAL1 STAT3 TBX1 TERC TERT TINF2 TREX1

More info about this panel

Ataxia, autosomal recessive and X-linked Panel Panel

Germany.

By CeGaT GmbH Ataxia, autosomal recessive and X-linked Panel that also includes the following genes: SACS SLC9A1 SPG7 SPTBN2 STUB1 TTPA WWOX ATP8A2 CA8 SNX14

More info about this panel

Breast and Ovarian Cancer Panel

Estonia.

By Asper Biogene Asper Biogene LLC Breast and Ovarian Cancer that also includes the following genes: BRCA1 BRCA2 STK11 TP53 XRCC2 CHD1 BRIP1 PALB2 MEN1 MLH1

More info about this panel

Cancer Predisposition Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel

Inherited Cancer Screen Panel

United States.

By Counsyl Inherited Cancer Screen that also includes the following genes: SDHA SDHB SDHC BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL

More info about this panel

qCancer Risk Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCancer Risk that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDK4 CDKN2A BRIP1

More info about this panel

qCancer Risk Expanded Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCancer Risk Expanded that also includes the following genes: SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 TSC1

More info about this panel

qCancer Gine Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCancer Gine that also includes the following genes: BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 BRIP1 PALB2 MLH1 MRE11

More info about this panel

Invitae Joubert and Meckel-Gruber Syndromes Panel Panel

United States.

By Invitae Invitae Joubert and Meckel-Gruber Syndromes Panel that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216

More info about this panel

Invitae Ciliopathies Panel Panel

United States.

By Invitae Invitae Ciliopathies Panel that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 IFT122 TMEM237

More info about this panel

COLON, BREAST AND OVARIAN CANCER Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases COLON, BREAST AND OVARIAN CANCER that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 XRCC2 CDH1 BRIP1 PALB2

More info about this panel

Ataxia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Ataxia that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA CACNA1A CACNB4 APTX TGM6 COQ8A SYNE1

More info about this panel

Hereditary Neuropathies: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

More info about this panel

Hereditary Cancer Syndrome: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11

More info about this panel

Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 XRCC2 CDH1 BRIP1 PALB2

More info about this panel

Hereditary Cancer Syndrome: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B

More info about this panel

Hereditary Neuropathies: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

More info about this panel

Hereditary Cancer NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel

Microcephaly NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Microcephaly NGS Panel that also includes the following genes: MSMO1 STIL BUB1B VRK1 SLC25A19 CASK TSEN34 PCNT CENPJ NDE1

More info about this panel

Chromosomal Instability Syndromes NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Chromosomal Instability Syndromes NGS Panel that also includes the following genes: BLM WRN ERCC6 ERCC8 MRE11 NBN ATM

More info about this panel

MRE11A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MRE11 gene.

More info about this panel

Focus Cancer Panel - 40 Genes Panel

United States.

By Fulgent Genetics Fulgent Genetics Focus Cancer Panel - 40 Genes that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL CDH1 CDK4 CDKN2A

More info about this panel

Breast Cancer Focus Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Breast Cancer Focus Panel that also includes the following genes: BRCA1 BRCA2 STK11 TP53 CDH1 BRIP1 PALB2 MRE11 NBN ATM

More info about this panel

Ovarian Cancer Focus Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Ovarian Cancer Focus Panel that also includes the following genes: BRCA1 BRCA2 STK11 EPCAM TP53 BRIP1 MLH1 MRE11 MSH2 MSH6

More info about this panel

Comprehensive Cancer Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel

Breast Cancer Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Breast Cancer Comprehensive Panel that also includes the following genes: BRCA1 BRCA2 STK11 TP53 XRCC2 CDH1 BRIP1 PALB2 MRE11 NBN

More info about this panel

Ovarian Cancer Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Ovarian Cancer Comprehensive Panel that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 BRIP1 MLH1 MRE11 MSH2

More info about this panel

Microcephaly and Pontocerebellar Hypoplasia Panel Panel

Finland.

By Blueprint Genetics Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL PLK4 VRK1 XRCC4 GFM1 CASK PCNT TUBGCP4 STAMBP CENPJ

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

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

Comprehensive Hereditary Cancer Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel

Hereditary Breast and Gynecological Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Breast and Gynecological Cancer Panel that also includes the following genes: BLM BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 XRCC2 DICER1 CDH1

More info about this panel

FoundationOne® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel

Hereditary Breast and Ovarian Cancer 26 Gene Panel Panel

United States.

By Veritas Genetics Veritas Genetics Hereditary Breast and Ovarian Cancer 26 Gene Panel that also includes the following genes: BRCA1 BRCA2 STK11 EPCAM TP53 XRCC2 CDH1 BRIP1 ABRAXAS1 PALB2

More info about this panel

Hereditary Cancer Comprehensive Panel Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Hereditary Cancer Comprehensive Panel that also includes the following genes: RUNX1 SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TERC

More info about this panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel

Otogenetics Hereditary Cancers Panel

United States.

By Otogenetics Otogenetics Hereditary Cancers that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL ELAC2 PALLD CDH1

More info about this panel

BREAST AND OVARIAN CANCER NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL BREAST AND OVARIAN CANCER NGS PANEL that also includes the following genes: BLM BRCA1 BRCA2 STK11 EPCAM TP53 WRN CDH1 PSMC3IP TNFRSF13B

More info about this panel

SPINOCEREBELLAR ATAXIA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SPINOCEREBELLAR ATAXIA NGS PANEL that also includes the following genes: SPTBN2 STUB1 TWNK TTPA WWOX CA8 CACNA1A CACNA1G ELOVL4 APTX

More info about this panel

ATAXIA TELANGIECTASIA- LIKE Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the MRE11 gene.

More info about this panel

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel

Ataxia Telangiectasia-Like Disorder , Sequencing MRE11A Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MRE11 gene.

More info about this panel

Chromosome Breakage Related Disorders , Panel Massive Sequencing (NGS) 8 Genes Panel

Spain.

By Reference Laboratory Genetics Chromosome Breakage Related Disorders , Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: BLM WRN ERCC6 ERCC8 MRE11 NBN ATM RECQL4

More info about this panel

Ataxia-Telangiectasia, Panel Massive Sequencing (NGS) ATM, ATR, MRE11A Genes Panel

Spain.

By Reference Laboratory Genetics Ataxia-Telangiectasia, Panel Massive Sequencing (NGS) ATM, ATR, MRE11A Genes that also includes the following genes: MRE11 ATM ATR

More info about this panel

152 Integrated Advantage NGS Solid Tumor Panel Panel

United States.

By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC

More info about this panel

Tempus xT assay Panel

United States.

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

More info about this panel

Tempus xO assay Panel

United States.

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

More info about this panel

Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel that also includes the following genes: BRCA1 BRCA2 SMARCA4 STK11 EPCAM TP53 XRCC2 CDH1 BRIP1 PALB2

More info about this panel

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel

Hereditary Cancer Syndrome: Gene Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11

More info about this panel

Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like LAMA5 CACNA1G TIA1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more