Pronto Diagnostics has established, with the support of MRC, a globally relevant central MLPA testing laboratory, MLPALab, which accepts orders for MLPA-based tests from all around the world. The laboratory can undertake any number of MLPA tests of any gene, while offering an excellent price and shortest turnaround time. This obviates the necessity for genetic testing laboratories to purchase an entire kit (100 samples) when they do not have the necessity to utilize all the tests. 
   

Pronto Diagnostic’s clinical molecular diagnostic service laboratory, ProntoLab^TM, sequences any gene requested at an unprecedented price.   
 

ProntoLab^TM has announced that it has managed to reduce the price for a number of tests it currently offers, including sequencing of the BRCA1&2 genes, sequencing of CFTR and all MLPA tests.  
 

Pronto Diagnostics has announced that it is offering a revolutionary new blood test for the early detection of colorectal cancer. The Septin9 blood test of Epigenomics permits simple and reliable early detection of the biomarker ^mSEPT9, which is specific for colorectal cancer, in blood plasma and is approved as a CE-marked test in Europe. The test has a very high rate of both specificity and sensitivity (90%).
The Israeli population is offered two main options for the early diagnosis of colorectal cancer through the different medical funds: stool tests and colonoscopy. In spite of this, the target population (people over the age of 50) prefers not to undergo the current screening tests as a result of the nature of the tests. The main advantage of the Septin9 blood test is the fact that it is a simple test for the patient to undergo. As a result of its high accuracy, it can replace the stool test and can be used by doctors to decide whether a colonoscopy is essential or not. 
 

Among the tests offered by Pronto is the high accuracy Pathwork® Tissue of Origin (TOO) for metastatic and difficult to diagnose cancers. This is the only FDA-cleared molecular diagnostic gene expression-based test that uses a tumor's own genomic information to aid in identifying challenging tumors, including metastatic, poorly differentiated and undifferentiated tumors. With the innovative use of microarrays, the Tissue of Origin Test measures the expression pattern, comprising more than 2,000 genes, in a challenging tumor and compares it to expression patterns of a panel of 15 known tissue types, representing 90% of all solid tumors, in order to identify the primary type.  The test provides objective data previously unavailable to physicians for tissue of origin identification and resolves equivocal diagnoses when the cancer is found in an unexpected area, or multiple locations, indicating metastatic disease, or when tumor cells are poorly differentiated or undifferentiated, making them difficult to interpret. Recently, Pathwork® has published that the TOO test works also with body fluid specimens to identify metastatic cancers.Knowing the primary tissue type with greater certainty assists physicians to prescribe the most appropriate targeted therapyand saves the patient from the need of repeated testing, examinations and imaging or biopsy procedures. 
 

Pronto was granted exclusive distributor status for Israel and the Palestinian territories by Vermillion, Inc., for OVA1. This is the first protein-based in vitro diagnostic multi-variate index assay (IVDMIA), a new class of state of the art software-based diagnostics, cleared by the FDA. The test utilizes five well-established biomarkers -- Transthyretin (TT or prealbumin), Apolipoprotein A-1 (Apo A-1), Beta2-Microglobulin (Beta2M), Transferrin (Tfr) and Cancer Antigen 125 (CA 125 II) -- and proprietary software to determine the likelihood of malignancy in women with an ovarian mass for whom surgery is planned.It is used in conjunction with standard pre-surgical evaluation prior to a planned surgery.
A paper published in the June 2011 issue of Obstetrics & Gynecology demonstrated that adding OVA1 to a physician's preoperative assessment of a woman's ovarian mass would identify more ovarian cancers than a physician's preoperative assessment alone. Furthermore, the OVA1 was clearly found to improve Ovarian Cancer detection over CA 125 blood test and clinical assessment.  
 

 Pronto Diagnostics is the Israeli distributor for Protrans, which offers DNA-based typing systems in SSP and SBT techniques, including a Celiac Disease kit with which is possible to determine Celiac Disease association. The combination of specific alleles in HLA DQB1, DQA1 and DRB1 are associated with Celiac Disease, and a high prevalence rate of approx. 10% among first degree relatives of CD patients indicates a strong genetic influence on susceptibility to develop this disease.  If a sibling of CD patients does not have these HLA markers, it is extremely unlikely (95%) that he/she will ever develop the disorder.  HLA-DQ typing may be performed in CD relatives as a pre-screening test to restrict the number of subjects who must undergo further investigations and is less expensive and distressing to the patient than repeated small bowel biopsies. Furthermore, this test allows detecting homozygosity for HLA-DQ2 which is associated with RCD II and EATL - severe complications of Celiac Disease. Early identification of HLA-DQ2 homozygous CD patients may help to recognize CD patients at risk for developing these complications.
 

Pronto Participating in the EUROTRAPS (EU FP7 Project).
Pronto develops high throughput, complete genotyping of the TNFRSF1A gene.
The TNF Receptor Associated Periodic Syndrome (TRAPS) is a rare autosomal dominant multi-systematic auto-inflammatory disorder, caused by sporadic mutations in the TNF super family Receptor 1A gene (TNFRSF1A). Genetic diagnosis of TRAPS consists usually of sequencing of exons 2-4 of TNFRSF1A gene. As mutations which cause TRAPS have been also found outside these exons, Pronto has developed the ProntoSEQ™ TRAPS kit, based on sequencing procedure, which is the most commonly used approach for both mutation scanning and mutation testing and is widely regarded as the gold standard. This kit was designed and developed so that it will allow screening and detection of both known and novel point mutations (substitutions and small indels), in all ten exons as well as part of introns in the TNFRSF1A gene.
 

Pronto develops a differential genetic diagnostic test for HRF syndromes.
Hereditary Recurrent Fevers (HRF) syndromes are rare and distinct heritable disorders. Several periodic fever diseases have been well characterized over the last few years, and considerable recent progress has been made in identifying causative genes and developing treatment options. Since all syndromes are characterized by very similar symptoms, and the mode of inheritance is not always clear, we decided to develop a differential genetic diagnostic test for HRF syndromes. The Differential HRF sequencing kit was designed to cover most common point mutations in the four main HRF genes using a sequencing procedure, as detailed in the following table:

Although not yet a commercial product, Pronto can now offer, as a service, the complete screening of the TNFRSF1A gene as well as the Differential HRF diagnostic test using sequencing technique.
This project is supported through Coordination Theme 1 (Health) of the European Community's FP7.

Pronto Diagnostics has established, with the support of MRC, a globally relevant central MLPA testing laboratory, MLPALab, which accepts orders for MLPA-based tests from all around the world. The laboratory can undertake any number of MLPA tests of any gene, while offering an excellent price and shortest turnaround time. This obviates the necessity for genetic testing laboratories to purchase an entire kit (100 samples) when they do not have the necessity to utilize all the tests. 
   

Pronto Diagnostic’s clinical molecular diagnostic service laboratory, ProntoLab^TM, sequences any gene requested at an unprecedented price.   
 

ProntoLab^TM has announced that it has managed to reduce the price for a number of tests it currently offers, including sequencing of the BRCA1&2 genes, sequencing of CFTR and all MLPA tests.  
 

Pronto Diagnostics has announced that it is offering a revolutionary new blood test for the early detection of colorectal cancer. The Septin9 blood test of Epigenomics permits simple and reliable early detection of the biomarker ^mSEPT9, which is specific for colorectal cancer, in blood plasma and is approved as a CE-marked test in Europe. The test has a very high rate of both specificity and sensitivity (90%).
The Israeli population is offered two main options for the early diagnosis of colorectal cancer through the different medical funds: stool tests and colonoscopy. In spite of this, the target population (people over the age of 50) prefers not to undergo the current screening tests as a result of the nature of the tests. The main advantage of the Septin9 blood test is the fact that it is a simple test for the patient to undergo. As a result of its high accuracy, it can replace the stool test and can be used by doctors to decide whether a colonoscopy is essential or not. 
 

Among the tests offered by Pronto is the high accuracy Pathwork® Tissue of Origin (TOO) for metastatic and difficult to diagnose cancers. This is the only FDA-cleared molecular diagnostic gene expression-based test that uses a tumor's own genomic information to aid in identifying challenging tumors, including metastatic, poorly differentiated and undifferentiated tumors. With the innovative use of microarrays, the Tissue of Origin Test measures the expression pattern, comprising more than 2,000 genes, in a challenging tumor and compares it to expression patterns of a panel of 15 known tissue types, representing 90% of all solid tumors, in order to identify the primary type.  The test provides objective data previously unavailable to physicians for tissue of origin identification and resolves equivocal diagnoses when the cancer is found in an unexpected area, or multiple locations, indicating metastatic disease, or when tumor cells are poorly differentiated or undifferentiated, making them difficult to interpret. Recently, Pathwork® has published that the TOO test works also with body fluid specimens to identify metastatic cancers.Knowing the primary tissue type with greater certainty assists physicians to prescribe the most appropriate targeted therapyand saves the patient from the need of repeated testing, examinations and imaging or biopsy procedures. 
 

Pronto was granted exclusive distributor status for Israel and the Palestinian territories by Vermillion, Inc., for OVA1. This is the first protein-based in vitro diagnostic multi-variate index assay (IVDMIA), a new class of state of the art software-based diagnostics, cleared by the FDA. The test utilizes five well-established biomarkers -- Transthyretin (TT or prealbumin), Apolipoprotein A-1 (Apo A-1), Beta2-Microglobulin (Beta2M), Transferrin (Tfr) and Cancer Antigen 125 (CA 125 II) -- and proprietary software to determine the likelihood of malignancy in women with an ovarian mass for whom surgery is planned.It is used in conjunction with standard pre-surgical evaluation prior to a planned surgery.
A paper published in the June 2011 issue of Obstetrics & Gynecology demonstrated that adding OVA1 to a physician's preoperative assessment of a woman's ovarian mass would identify more ovarian cancers than a physician's preoperative assessment alone. Furthermore, the OVA1 was clearly found to improve Ovarian Cancer detection over CA 125 blood test and clinical assessment.  
 

 Pronto Diagnostics is the Israeli distributor for Protrans, which offers DNA-based typing systems in SSP and SBT techniques, including a Celiac Disease kit with which is possible to determine Celiac Disease association. The combination of specific alleles in HLA DQB1, DQA1 and DRB1 are associated with Celiac Disease, and a high prevalence rate of approx. 10% among first degree relatives of CD patients indicates a strong genetic influence on susceptibility to develop this disease.  If a sibling of CD patients does not have these HLA markers, it is extremely unlikely (95%) that he/she will ever develop the disorder.  HLA-DQ typing may be performed in CD relatives as a pre-screening test to restrict the number of subjects who must undergo further investigations and is less expensive and distressing to the patient than repeated small bowel biopsies. Furthermore, this test allows detecting homozygosity for HLA-DQ2 which is associated with RCD II and EATL - severe complications of Celiac Disease. Early identification of HLA-DQ2 homozygous CD patients may help to recognize CD patients at risk for developing these complications.
 

Pronto Participating in the EUROTRAPS (EU FP7 Project).
Pronto develops high throughput, complete genotyping of the TNFRSF1A gene.
The TNF Receptor Associated Periodic Syndrome (TRAPS) is a rare autosomal dominant multi-systematic auto-inflammatory disorder, caused by sporadic mutations in the TNF super family Receptor 1A gene (TNFRSF1A). Genetic diagnosis of TRAPS consists usually of sequencing of exons 2-4 of TNFRSF1A gene. As mutations which cause TRAPS have been also found outside these exons, Pronto has developed the ProntoSEQ™ TRAPS kit, based on sequencing procedure, which is the most commonly used approach for both mutation scanning and mutation testing and is widely regarded as the gold standard. This kit was designed and developed so that it will allow screening and detection of both known and novel point mutations (substitutions and small indels), in all ten exons as well as part of introns in the TNFRSF1A gene.
 

Pronto develops a differential genetic diagnostic test for HRF syndromes.
Hereditary Recurrent Fevers (HRF) syndromes are rare and distinct heritable disorders. Several periodic fever diseases have been well characterized over the last few years, and considerable recent progress has been made in identifying causative genes and developing treatment options. Since all syndromes are characterized by very similar symptoms, and the mode of inheritance is not always clear, we decided to develop a differential genetic diagnostic test for HRF syndromes. The Differential HRF sequencing kit was designed to cover most common point mutations in the four main HRF genes using a sequencing procedure, as detailed in the following table:

Although not yet a commercial product, Pronto can now offer, as a service, the complete screening of the TNFRSF1A gene as well as the Differential HRF diagnostic test using sequencing technique.
This project is supported through Coordination Theme 1 (Health) of the European Community's FP7.