PRF1

OMIMHGNC

Synonym(s): PFP, P1, HPLH2

Locus: 10q22.1

Protein: Perforin 1

 

Disorders

Tests

Test Type
Molecular (47)
Multi-Gene Panel (35)
Multi-Method Panel (12)
Test Method
Del/Dup (CNV) (15)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (11)
Sequencing, Next Gen (34)
Prenatal/Carrier
Prenatal (16)
Carrier (26)
Lab Location
USA(14)
Spain(4)
Portugal(5)
Germany(9)
Turkey(2)
Poland(4)
Estonia(1)
Finland(7)
Austria(1)
 
TAT: 4 weeks
price: contact lab
PRF1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 3-4 weeks
price: contact lab
Perforin Gene Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
Primary Immunodeficiency Gene Panel
method(s): ◦ Sequencing, Next Gen 
All Children's Hospital, Histocompatibility and Immunogenetics Laboratory - St. Petersburg, FL, 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: 4 weeks
price: contact lab
PRF1 Deletion/duplication analysis
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
Familial Hemophagocytic Lymphohistiocytosis Type 2 , Sequencing PRF1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
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
Hereditary Cancer Panel 170 PLUS
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Inherited Disease Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Hereditary Cancer Panel 'For Him'
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Hereditary Cancer Panel 'For Her'
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Hemophagocytic lymphohistiocytosis, familial (sequence analysis of PRF1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 94 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Hemophagocytic Lymphohistiocytosis
method(s): ◦ Sequencing, Next Gen 
All Children's Hospital, Histocompatibility and Immunogenetics Laboratory - St. Petersburg, FL, USA
TAT: 4-6 weeks
price: contact lab
Tier 2: Hereditary Lymphoma Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Familial Hemophagocytic Lymphohistiocytosis Type 2 Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Burc Molecular Genetics Laboratory - Istanbul, Turkey
Familial Hemophagocytic Lymphohistiocytosis, Panel Massive Sequencing (NGS) 16 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3-5 weeks
price: contact lab
Hereditary Cancer Syndromes, Comprehensive Diagnostics
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks
price: contact lab
Leukodystrophy / Leukencephalopathy and Differential Diagnoses Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Somatic Tumor Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Hemophagocytic lymphohistiocytosis and reticuloendotheliosis with eosinophilia, familial (NGS panel for 7 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
Single gene testing PRF1
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
TAT: 8-9 weeks
price: contact lab
OncoRisk Plus (NGS panel for 89 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 8-10 weeks
price: contact lab
Epilepsy Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4-6 weeks
price: contact lab
Bone Marrow Failure Syndromes Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Immune Dysregulation Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: contact lab
price: $1,201.00
Cancer Predisposition
method(s): ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
TAT: 4-6 Weeks
price: contact lab
Familial Hemophagocytic Lymphohistiocytosis NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
PRF1
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
Idiopathic Aplastic Anemia, Panel Massive Sequencing (NGS) 6 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
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
Amyotrophic Lateral Sclerosis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Hereditary Pediatric Cancer 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
Comprehensive Hereditary Cancer Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Hemophagocytic Lymphohistiocytosis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Primary Immunodeficiency Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: $690.00
Familial Hemophagocytic Lymphohistiocytosis-Type 2 (FHL2) via the PRF1 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $840.00
Familial Hemophagocytic Lymphohistiocytosis (FHL) Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $590.00
Familial Hemophagocytic Lymphohistiocytosis-Type 2 (FHL2) via the PRF1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,440.00
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Hemophagocytic Lymphohistiocytosis (Hämophagozytische Lymphohistiozytose)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: ~2 weeks
price: contact lab
Aplastic anemia
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 11-12 weeks
price: contact lab
Hemophagocytic syndrome NGS panel
method(s): ◦ Sequencing, Next Gen 
IBMC-Institute for Cell and Molecular Biology, CGPP - Center for Predictive and Preventive Genetics - Porto, Portugal
TAT: ~2 weeks
price: contact lab
Hemophagocytic lymphohistiocytosis type 2
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 7-8 weeks
price: contact lab
Bone marrow failure panel
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany