BLM

OMIMHGNC

Synonym(s): BS, RECQL3, RECQ2

Locus: 15q26.1

Protein: BLM protein

 

Disorders

Filter By:

Test Type
Molecular
Cytogenetic
Panel
Test Method
Genotyping (Microarray, Beads, etc.)
Sequencing, Next Gen
Sequencing, Capillary (Sanger)
Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)
Mutation Scanning of Entire Coding Region
Sister Chromatid Exchange
Prenatal/Carrier
Prenatal
Carrier
Lab Location
Canada
Estonia
Germany
Spain
United Kingdom
USA

Tests

Test
TAT: 4-6 weeks
price: contact lab
Ashkenazi Jewish Carrier Multi-Gene Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
TAT: 5-6 weeks
price: contact lab
Ashkenazi Jewish Carrier Screening Panel: DNA Only
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 7-10 days
price: contact lab
Ashkenazi Jewish Diseases (BLM, ASPA, IKBKAP, FANCC, GBA, MCOLN1, SMPD1, HEXA), Common Mutation Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
TAT: 4-6 weeks
price: contact lab
Ashkenazi Jewish Screening Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada
TAT: 3-4 weeks
price: contact lab
BLM Del/Dup
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
GeneDx - Gaithersburg, MD, USA
TAT: 4-5 weeks
price: contact lab
BLM deletion/duplication analysis
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 6-8 weeks
price: contact lab
BLM Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: 12-13 weeks
price: contact lab
BLM Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 2-3 weeks
price: $1,500.00
Bloom syndrome
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Next Gen 
Invitae - San Francisco, CA, USA
TAT: 4-5 weeks
price: contact lab
Bloom Syndrome
method(s): ◦ Sister Chromatid Exchange 
Bristol Genetics Laboratory, Southmead Hospital, North Bristol NHS Trust - Bristol, United Kingdom
TAT: 7-10 days
price: contact lab
Bloom Syndrome
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
TAT: 7-10 days
price: contact lab
Bloom Syndrome (BLM) 1 Mutation
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 7-10 days
price: contact lab
Bloom Syndrome (BLM) 1 Mutation, Fetal
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 4-6 weeks
price: contact lab
Bloom Syndrome (see Ashkenazi Jewish Screening Panel)
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada
TAT: 3-4 weeks
price: contact lab
Bloom Syndrome Ashkenazic
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Bloom Syndrome Mutation Analysis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
TAT: 3-4 weeks
price: $1,320.00
Bloom Syndrome via the BLM Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $990.00
Bloom Syndrome via the BLM Gene
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4-5 weeks
price: contact lab
Bloom Syndrome, BLM Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
Bloom Syndrome, BLM KFM Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
Bloom Syndrome, BLM Prenatal Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Bloom Syndrome, Sequencing BLM (RECQL3) Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 4-5 weeks
price: contact lab
Bloomand#39;s Syndrome: BLM Gene Deletion/Duplication
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-5 weeks
price: contact lab
Bloomand#39;s Syndrome: BLM Gene Sequencing
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-6 weeks
price: contact lab
Breast Ovarian Cancer NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-5 weeks
price: $3,790.00
Cancer Deletion/Duplication Panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 5-7 weeks
price: $3,890.00
Cancer NextGen Sequencing (NGS) Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 8-10 weeks
price: contact lab
Cancer: Familial/Multiple Cancer (Not Specified) Multi-Gene Panel
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 5-7 weeks
price: contact lab
Carrier Screening Panel: Ashkenazi Jewish
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 3-5 weeks
price: $1,790.00
Chromosomal Instability Syndromes Deletion/Duplication Panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 5-7 weeks
price: $2,490.00
Chromosomal Instability Syndromes NextGen Sequencing (NGS) Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 16-20 weeks
price: contact lab
Chromosome Breakage Disorders NGS Panel
method(s): ◦ Sequencing, Next Gen 
Bristol Genetics Laboratory, Southmead Hospital, North Bristol NHS Trust - Bristol, United Kingdom
TAT: 4-5 weeks
price: contact lab
Chromosome Breakage Syndrome Deletion/Duplication Panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 12-13 weeks
price: contact lab
Chromosome Breakage Syndrome Panel
method(s): ◦ Sequencing, Next Gen 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 3-5 weeks
price: $2,690.00
Gastrointestinal Cancer Deletion/Duplication Panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 5-7 weeks
price: $3,590.00
Gastrointestinal Cancer NextGen Sequencing (NGS) Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4-6 weeks
price: contact lab
Hereditary Cancer Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-3 weeks
price: contact lab
Hereditary Colorectal Cancer DNA Insight
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Pathway Genomics Corporation - San Diego, CA, USA
TAT: 7-8 weeks
price: contact lab
NGS and Sanger sequencing of the BLM gene
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of genes: BLM, GPC3, NBN, NSD1, RAD50, WT1.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
Primary Immunodeficiency Gene Panel
method(s): ◦ Sequencing, Next Gen 
All Children's Hospital, Histocompatibility and Immunogenetics Laboratory - St. Petersburg, FL, USA
TAT: 12-13 weeks
price: contact lab
Proportionate Short Stature/Small for Gestational Age: CytoScan SNP Array, Russell-Silver Panel, UPD14 Analysis, Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Proportionate Short Stature/Small for Gestational Age: CytoScan SNP Array, Sequencing, and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Proportionate Short Stature/Small for Gestational Age: Russell-Silver Panel, UPD14 Analysis, Sequencing, and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA