BLM gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to BLM gene

Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
Sacral dimple Very Common - Between 80% and 100% cases
Telangiectasia of the skin Very Common - Between 80% and 100% cases
Pulmonary fibrosis Very Common - Between 80% and 100% cases
High pitched voice Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with BLM gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Squamous cell carcinoma
  • Hand polydactyly
  • Reduced number of teeth
  • Hypopigmented skin patches
  • Azoospermia
  • Acute myeloid leukemia
  • Narrow face
  • Sinusitis

And 67 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

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Rare diseases associated to BLM gene

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


BLOOM SYNDROME


Alternate names

BLOOM SYNDROME Is also known as bls, microcephaly, growth restriction, and increased sister chromatid exchange 1, bs, bsyn, mgrisce1

Description

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

Most common symptoms of BLOOM SYNDROME

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


More info about BLOOM SYNDROME

SOURCES: ORPHANET OMIM MESH


Potential gene panels for BLM gene

BLM Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the BLM gene.

More info about this panel

BLM Sequence Analysis (Familial Mutation/Variant Analysis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the BLM gene.

More info about this panel

BLM Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the BLM gene.

More info about this panel

Bloom Syndrome Ashkenazic Mutation Panel Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the BLM gene.

More info about this panel

GeneAware Complete Panel Version 2 (Female) Panel

United States.

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

More info about this panel

GeneAware Complete Panel Version 2 (Male) Panel

United States.

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

More info about this panel

GeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel

United States.

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

More info about this panel

GeneAware ACMG/ACOG Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware ACMG/ACOG Panel Version 2 (Male) that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HBA1 HBA2 HBB

More info about this panel

GeneAware Ashkenazi Jewish Panel Version 2 (Male) Panel

United States.

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

More info about this panel

GeneAware ACMG/ACOG Panel Version 2 (Female) Panel

United States.

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

More info about this panel

Bloom Syndrome Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the BLM gene.

More info about this panel

Ashkenazi Jewish Carrier Screening Panel Panel

United States.

By Center for Human Genetics, Inc Ashkenazi Jewish Carrier Screening Panel that also includes the following genes: BLM SMPD1 CLRN1 MCOLN1 PCDH15 TMEM216 DLD F11 FANCC FKTN

More info about this panel

Test for Bloom's Syndrome Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the BLM gene.

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

Bloom Syndrome, DNA Analysis Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the BLM gene.

More info about this panel

VistaSeq Colorectal Cancer Panel Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta VistaSeq Colorectal Cancer Panel that also includes the following genes: BLM BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDKN2A APC

More info about this panel

Chromosome Breakage Disorders Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Chromosome Breakage Disorders Panel by next-generation sequencing (NGS) that also includes the following genes: BLM NHEJ1 LIG4 NBN ATM

More info about this panel

BLM Sequencing Panel

United States.

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

This panel specifically test the BLM gene.

More info about this panel

Chromosome Breakage Disorders Deletion/Duplication Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Chromosome Breakage Disorders Deletion/Duplication Panel that also includes the following genes: BLM NHEJ1 LIG4 NBN ATM

More info about this panel

BLM Deletion/duplication analysis Panel

United States.

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

This panel specifically test the BLM gene.

More info about this panel

Tier 2: Hereditary Lymphoma and Immunodeficiency Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Tier 2: Hereditary Lymphoma and Immunodeficiency Panel that also includes the following genes: BLM SH2D1A BRCA1 BRCA2 STXBP2 FAS CD27 FASLG WAS IKZF1

More info about this panel

Tier 2: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL) Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Tier 2: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL) Panel that also includes the following genes: BLM BRCA1 BRCA2 TP53 CBL MLH1 MSH2 MSH6 NF1 ATM

More info about this panel

Comprehensive Hereditary Cancer Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Hereditary Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SRP72

More info about this panel

Hereditary Leukemia and Breast Cancer Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Leukemia and Breast Cancer Panel that also includes the following genes: RUNX1 BLM BRCA1 BRCA2 SRP72 TERC TERT TP53 IKZF1 SAMD9

More info about this panel

Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

More info about this panel

Bloom Syndrome Panel

United States.

By Molecular Genetics Columbia University

This panel specifically test the BLM gene.

More info about this panel

BLM Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the BLM gene.

More info about this panel

Ashkenazi Jewish Diseases, 16 Genes Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Ashkenazi Jewish Diseases, 16 Genes that also includes the following genes: BLM SMPD1 CLRN1 MCOLN1 PCDH15 TMEM216 DLD FANCC G6PC HEXA

More info about this panel

Bloom Syndrome (BLM), 1 Variant Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the BLM gene.

More info about this panel

BLM Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the BLM gene.

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

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

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

RECQL3. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the BLM gene.

More info about this panel

CHOP Comprehensive Hereditary Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13

More info about this panel

Bloom syndrome (sequence analysis of BLM gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the BLM gene.

More info about this panel

OncoRisk Plus (NGS panel for 89 genes) Panel

Portugal.

By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Progeroid syndromes (NGS panel for 12 genes) Panel

Portugal.

By CGC Genetics Progeroid syndromes (NGS panel for 12 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BANF1 SPRTN ERCC6 ERCC8 FBN1 KCNJ6

More info about this panel

Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel

Portugal.

By CGC Genetics Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BSCL2 BANF1 TBC1D4 CIDEC SPRTN AGPAT2

More info about this panel

Progeroid syndromes (NGS panel for 12 genes) Panel

Portugal.

By CGC Genetics Progeroid syndromes (NGS panel for 12 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BANF1 SPRTN ERCC6 ERCC8 FBN1 KCNJ6

More info about this panel

Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel

Portugal.

By CGC Genetics Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BSCL2 BANF1 TBC1D4 CIDEC SPRTN AGPAT2

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

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

Bloom's Syndrome via BLM Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the BLM gene.

More info about this panel

Mental retardation - different panels Panel

Germany.

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

More info about this panel

Hereditary Cancer Syndromes - panels Panel

Germany.

By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Breast Cancer Panel

Germany.

By MGZ Medical Genetics Center Breast Cancer that also includes the following genes: BLM SDHB SDHC SDHD BRCA1 BRCA2 STK11 BUB1B TP53 CDH1

More info about this panel

Ashkenazi panel (basic) Panel

Germany.

By Centogene AG - the Rare Disease Company Ashkenazi panel (basic) that also includes the following genes: BLM MCOLN1 FANCC HEXA ELP1 ASPA

More info about this panel

Ashkenazi panel (advanced) Panel

Germany.

By Centogene AG - the Rare Disease Company Ashkenazi panel (advanced) that also includes the following genes: BLM CLRN1 MCOLN1 PCDH15 CFTR DLD FANCC G6PC GBA HEXA

More info about this panel

CentoCancer panel Panel

Germany.

By Centogene AG - the Rare Disease Company CentoCancer panel that also includes the following genes: BLM BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDK4 CDKN2A

More info about this panel

Bloom syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the BLM gene.

More info about this panel

Disorders associated with malignancy Panel Panel

Germany.

By CeGaT GmbH Disorders associated with malignancy Panel that also includes the following genes: BLM SDHB SDHD STK11 TERC TERT TINF2 TSC1 TSC2 XPA

More info about this panel

Familial Tumor Syndromes Panel Panel

Germany.

By CeGaT GmbH Familial Tumor Syndromes Panel that also includes the following genes: BLM SDHB SDHC SDHD SMARCA4 SMARCB1 SMARCE1 TP53 TSC1 TSC2

More info about this panel

Genetic disorders with abnormal pigmentation Panel Panel

Germany.

By CeGaT GmbH Genetic disorders with abnormal pigmentation Panel that also includes the following genes: BLM SLC40A1 SNAI2 SOX10 STK11 TFR2 POFUT1 HAMP ADAM10 LYST

More info about this panel

Progeria syndromes Panel Panel

Germany.

By CeGaT GmbH Progeria syndromes Panel that also includes the following genes: BLM WRN ZMPSTE24 BANF1 GTF2H5 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6

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

Ashkenazi Jewish diseases Panel

Estonia.

By Asper Biogene Asper Biogene LLC Ashkenazi Jewish diseases that also includes the following genes: BLM BRCA1 BRCA2 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 LRRK2 CFTR

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

BLM single gene seq Panel

United States.

By Molecular Vision Laboratory

This panel specifically test the BLM gene.

More info about this panel

Family Prep Screen Panel

United States.

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

More info about this panel

Invitae Sarcoma Panel Panel

United States.

By Invitae Invitae Sarcoma Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD EPCAM TP53 WRN SUFU DICER1

More info about this panel

Invitae Multi-Cancer Panel Panel

United States.

By Invitae Invitae Multi-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Invitae Pediatric Hematologic Malignancies Panel Panel

United States.

By Invitae Invitae Pediatric Hematologic Malignancies Panel that also includes the following genes: RUNX1 BLM EPCAM TERC TERT TP53 CEBPA GATA2 HRAS MLH1

More info about this panel

Invitae Myelodysplastic Syndrome/Leukemia Panel Panel

United States.

By Invitae Invitae Myelodysplastic Syndrome/Leukemia Panel that also includes the following genes: RUNX1 BLM EPCAM TERC TERT TP53 CEBPA GATA2 HRAS MLH1

More info about this panel

Invitae Pediatric Solid Tumors Panel Panel

United States.

By Invitae Invitae Pediatric Solid Tumors Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A SMARCA4 SMARCB1 SMARCE1 STK11

More info about this panel

Invitae Bloom Syndrome Test Panel

United States.

By Invitae

This panel specifically test the BLM gene.

More info about this panel

ONCOLOGY, PANEL Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ONCOLOGY, PANEL that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRAF BRCA1 BRCA2 SMARCA4

More info about this panel

Bloom Syndrome: BLM Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the BLM gene.

More info about this panel

Bloom Syndrome: BLM Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the BLM gene.

More info about this panel

Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel that also includes the following genes: ROR2 RPS6KA3 BLM SHOX SHOX2 SMARCAL1 SMC1A SOS1 SOX2 SOX3

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

High Risk Colorectal Cancer: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics High Risk Colorectal Cancer: Sequencing Panel that also includes the following genes: BLM BMPR1A STK11 TP53 CDH1 APC SMAD4 MLH1 MSH2 MSH6

More info about this panel

Gastrointestinal and Colorectal Cancer: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Gastrointestinal and Colorectal Cancer: Sequencing Panel that also includes the following genes: BLM BMPR1A BRCA1 BRCA2 STK11 TP53 CDH1 CDKN2A APC SMAD4

More info about this panel

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

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

More info about this panel

Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel Panel

United States.

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

More info about this panel

ACOG/ACMG Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics ACOG/ACMG Carrier Screen: Gene Sequencing Panel that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HEXA ELP1 ASPA

More info about this panel

ACOG/ACMG Carrier Screen: Targeted Mutation Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics ACOG/ACMG Carrier Screen: Targeted Mutation Panel that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HEXA ELP1 ASPA

More info about this panel

Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel Panel

United States.

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

More info about this panel

Gastrointestinal and Colorectal Cancer: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Gastrointestinal and Colorectal Cancer: Deletion/Duplication Panel that also includes the following genes: BLM BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDKN2A APC

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

High Risk Colorectal Cancer: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics High Risk Colorectal Cancer: Deletion/Duplication Panel that also includes the following genes: BLM BMPR1A STK11 EPCAM TP53 CDH1 APC SMAD4 MLH1 MSH2

More info about this panel

Inheritest NGS, Society Guided Panel Panel

United States.

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

More info about this panel

Inheritest NGS, Ashkenazi Jewish Ancestry Panel Panel

United States.

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

More info about this panel

Bloom Syndrome Panel

United States.

By Integrated Genetics Westborough Integrated Genetics

This panel specifically test the BLM gene.

More info about this panel

Ashkenazi Jewish Carrier Testing Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Ashkenazi Jewish Carrier Testing that also includes the following genes: BLM SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC FKTN

More info about this panel

Inheritest NGS, Comprehensive Panel

United States.

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

More info about this panel

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

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

BLM Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BLM gene.

More info about this panel

Hematologic Malignancy Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hematologic Malignancy Comprehensive Panel that also includes the following genes: RUNX1 BLM EPCAM TERC TERT TP53 CEBPA GATA2 HRAS MLH1

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

Sarcoma Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Sarcoma Comprehensive Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD EPCAM TP53 WRN SUFU DICER1

More info about this panel

Bloom Syndrome DNA Mutation Analysis Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the BLM gene.

More info about this panel

Bloom Syndrome DNA Mutation Analysis (NY) Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the BLM gene.

More info about this panel

Hemato-oncology chromosomal microarray Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hemato-oncology chromosomal microarray that also includes the following genes: BLM BRAF BRCA1 BRCA2 SMARCB1 KDM5C SMO ABI1 SSX1 SSX2

More info about this panel

Fanconi Anemia Panel Panel

Finland.

By Blueprint Genetics Fanconi Anemia Panel that also includes the following genes: BLM BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 FANCI CXCR4 PALB2

More info about this panel

Progeria and Progeroid Syndromes Panel Panel

Finland.

By Blueprint Genetics Progeria and Progeroid Syndromes Panel that also includes the following genes: BLM WRN ZMPSTE24 BSCL2 COL3A1 GORAB AGPAT2 ERCC2 ERCC4 ERCC5

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

Severe Combined Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4

More info about this panel

Hereditary Leukemia Panel Panel

Finland.

By Blueprint Genetics Hereditary Leukemia Panel that also includes the following genes: RIT1 RUNX1 BLM BRAF BRCA1 BRCA2 SOS1 SRP72 EPCAM TERC

More info about this panel

Hereditary Pediatric Cancer Panel Panel

Finland.

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

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 Colorectal Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Colorectal Cancer Panel that also includes the following genes: BLM BMPR1A STK11 EPCAM TP53 GREM1 APC SMAD4 MLH1 MSH2

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Bloom Syndrome Panel Panel

Finland.

By Blueprint Genetics

This panel specifically test the BLM gene.

More info about this panel

Bone Marrow Failure Syndrome Panel Panel

Finland.

By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Hereditary Gastrointestinal Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Gastrointestinal Cancer Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B

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

Anemia Panel Panel

Finland.

By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Bloom syndrome Panel

Spain.

By Bioarray

This panel specifically test the BLM gene.

More info about this panel

Baby Genes Targeted Panel Panel

United States.

By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

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

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

BLOOM SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the BLM gene.

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

Bloom Syndrome, Sequencing BLM (RECQL3) Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the BLM gene.

More info about this panel

Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel

Spain.

By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

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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

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Hereditary Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes Panel

Spain.

By Reference Laboratory Genetics Hereditary Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes that also includes the following genes: BLM SDHB SDHC SDHD EPCAM TP53 WRN SUFU DICER1 CDKN1C

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planTrue Extended Panel

United States.

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

More info about this panel

planTrue ACOG & ACMG Screen Panel

United States.

By True Health Diagnostics planTrue ACOG & ACMG Screen that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HBA1 HBA2 HBB

More info about this panel

planTrue Standard Panel

United States.

By True Health Diagnostics planTrue Standard that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC

More info about this panel

planTrue Jewish Screen Panel

United States.

By True Health Diagnostics planTrue Jewish Screen that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC

More info about this panel

Phosphorus Leukemia including Fanconi Anemia Genes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Leukemia including Fanconi Anemia Genes Panel that also includes the following genes: RUNX1 BLM BRCA2 EPCAM TERC TERT TINF2 TP53 XRCC2 CEBPA

More info about this panel

Phosphorus Leukemia Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Leukemia Panel that also includes the following genes: RUNX1 BLM EPCAM TERC TERT TINF2 TP53 CEBPA DKC1 GATA2

More info about this panel

Phosphorus Pan-Cancer Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Phosphorus Pediatric Cancers Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pediatric Cancers Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SMARCB1 STK11 EPCAM

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

CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2

More info about this panel

CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

More info about this panel

Bloom Syndrome: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the BLM gene.

More info about this panel

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

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

Bloom Syndrome: BLM Gene Sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the BLM gene.

More info about this panel

Gastrointestinal and Colorectal Cancer: gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Gastrointestinal and Colorectal Cancer: gene sequencing Panel that also includes the following genes: BLM BMPR1A BRCA1 BRCA2 STK11 TP53 CDH1 CDKN2A APC SMAD4

More info about this panel

Gastrointestinal and Colorectal Cancer: Gene Deletion/Duplication Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Gastrointestinal and Colorectal Cancer: Gene Deletion/Duplication Panel that also includes the following genes: BLM BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDKN2A APC

More info about this panel

High Risk Colorectal Cancer: Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics High Risk Colorectal Cancer: Sequencing Panel that also includes the following genes: BLM BMPR1A STK11 TP53 CDH1 APC SMAD4 MLH1 MSH2 MSH6

More info about this panel

High Risk Colorectal Cancer: Gene Deletion/Duplication Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics High Risk Colorectal Cancer: Gene Deletion/Duplication Panel that also includes the following genes: BLM BMPR1A STK11 EPCAM TP53 CDH1 APC SMAD4 MLH1 MSH2

More info about this panel

Bloom Syndrome: BLM Gene Deletion/Duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the BLM gene.

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

PrimBio Colorectal Cancer Panel Panel

United States.

By PrimBio Research Institute PrimBio Research Institute PrimBio Colorectal Cancer Panel that also includes the following genes: BLM BMPR1A SCG5 BRAF BRCA1 STK11 BUB1B EPCAM TCF7L2 TGFBR2

More info about this panel


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