BLOC1S6

OMIMHGNC

Synonym(s): HPS9, PA, PLDN

Locus: 15q21.1

Protein: Biogenesis of lysosome-related organelles complex 1 subunit 6

 

Disorders

Tests

Test Type
Molecular (43)
Multi-Gene Panel (38)
Multi-Method Panel (17)
Test Method
Del/Dup (CNV) (21)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (12)
Sequencing, Next Gen (31)
Prenatal/Carrier
Prenatal (21)
Carrier (30)
Lab Location
USA(20)
Estonia(1)
Spain(3)
Poland(3)
Germany(2)
Canada(5)
Portugal(1)
Finland(6)
Austria(2)
 
TAT: 12-13 weeks
price: contact lab
Pulmonary Disease: Comprehensive Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 6-7 weeks
price: contact lab
Hemophagocytic Lymphohistiocytosis Panel
method(s): ◦ Sequencing, Next Gen 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 11-12 weeks
price: contact lab
BLOC1S6 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4 weeks
price: contact lab
BLOC1S6 Deletion/duplication analysis
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: contact lab
price: $1,201.00
Albinism
method(s): ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
TAT: 4 weeks
price: contact lab
Hemophagocytic Lymphohistocytosis Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
Eye Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Skin Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: 6-8 weeks
price: contact lab
Albinism Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 6-8 weeks
price: contact lab
PulmoGene Panel (64 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - Cambridge, MA, USA
TAT: 6-8 weeks
price: contact lab
Pulmonary Fibrosis-Hermansky-Pudlak Panel (21 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - Cambridge, MA, USA
TAT: 6-8 weeks
price: contact lab
Hermansky-Pudlak Syndrome Panel (9 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - Cambridge, MA, USA
TAT: 4-6 weeks
price: contact lab
Albinism Deletion/Duplication panel
method(s): ◦ Del/Dup (CNV) 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Familial Hemophagocytic Lymphohistiocytosis, Panel Massive Sequencing (NGS) 16 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-6 weeks
price: contact lab
Hermansky-Pudlak Syndrome Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 3 weeks
price: contact lab
aCGH Deletion/Duplication Analysis
method(s): ◦ Del/Dup (CNV) 
Diagnostic Labs at BloodCenter of Wisconsin - Milwaukee, WI, USA
Pulmonary Disease: Comprehensive Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Pulmonary Disease: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Albinism panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Pulmonary Disease: Comprehensive Sequencing Extended Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Hermansky-Pudlak Syndrome, Panel Massive Sequencing (NGS) 9 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-5 Weeks
price: contact lab
BLOC1S6
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Hermansky-Pudlak Syndrome NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Lung Disorders NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Diseases of immune dysregulation – hemophagocytic lymphohistiocystosis (NGS panel of 10 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 2-3 weeks
price: $1,500.00
Platelet bleeding disorders NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $2,100.00
Platelet bleeding disorders NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $3,450.00
Platelet bleeding disorders NGS panel Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-4 weeks
price: contact lab
Comprehensive Hematology Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Platelet Function Disorder Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Bone Marrow Failure Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Hermansky-Pudlak Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Bleeding Disorder/Coagulopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Albinism Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 2-3 weeks
price: $610.00
Hermansky-Pudlak Syndrome Type 9 (HPS9) via the BLOC1S6/PLDN Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,490.00
Hermansky-Pudlak Syndrome (HPS) Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Hermansky-Pudlak Syndrome Type 9, Sequencing BLOC1S6 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Hermansky-Pudlak Syndrome (Hermansky Pudlak Syndrom)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Hermansky-Pudlak Syndrome (Hermansky-Pudlak Syndrom)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 4-5 weeks
price: contact lab
Albinism panel
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany