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 announces a major improvement in the protocol of MLPA kits from MRC, all of which now have a new PCR primer mix and one-tube MLPA protocol. By changing the contents of the PCR primer mix, the formation of primer dimers in the MLPA PCR reaction is now almost completely prevented. In addition, the improved PCR primer mix makes it possible to use the complete ligation reaction for the PCR resulting in a simpler procedure using fewer reagents. The new PCR primer mix is therefore accompanied by the introduction of a new MLPA one-tube protocol.
Pronto is offering a new MLPA kit for the simultaneous detection of the SMA and Connexin related genes in one reaction. This kit combines testing for SMA carriers with the testing of several point mutations and copy number changes in the GJB2 and GJB6 genes that are a cause of deafness. Several genetic centers in Israel are currently evaluating this cost-effective kit.
A new PRONTO® Joubert kit has been launched in Israel for the detection of the c.35G>T mutation in the TMEM216 gene.
Patients with Joubert syndrome 2 (JBTS2) suffer from a neurological disease manifested by psychomotor retardation, hypotonia, ataxia, nystagmus, and oculomotor apraxia and variably associated with dysmorphism, as well as retinal and renal involvement. Joubert syndrome typically has an autosomal recessive pattern of inheritance. A single mutation in the TMEM216 gene, c.35G>T, which is predicted to result in the substitution of arginine at codon 12 by leucine (R12L) was found to cause JBTS2. In Ashkenazi Jews, the carrier rate of this mutation was found to be 1:92.
Y-Chromosome Microdeletion Detection System - New F-PCR single run multiplex assay for the detection of 25 regions associated with Azoospermia Factor.
The identification and analysis of Y chromosome deletions is an important research tool for studying male infertility. Deletions in four regions, AZFa, AZFb, AZFc and proximal AZFc (AZFd), are associated with male infertility. The kit amplifies nonpolymorphic short DNA segments of the Y chromosome by using polymerase chain reactions (PCR) and covers the maximum number of possible Y chromosome deletions.
New PRONTO® Pharmacogenetic kits launched in Israel, for screening of polymorphisms which cause poor response to drugs and ADRs. These include:
* PRONTO® ClopidoRiskTM - Clopidogrel metabolism.
For the detection of the following variant alleles:
CYP2C19 (*2,*3,*4,*5), ABCB1 (3435C>T)
* PRONTO® MorphiRiskTM - Morphine dosage.
For the detection of the following variant alleles:
OPRM1 (118A>G), COMT (472G>A)
* PRONTO® WarfaRiskTM - Warfarin dosage.
For the detection of the following variant alleles:
CYP2C9 (*2 [430C>T], *3 [1075A>C]), VKORC1(-1639G>A)
* PRONTO® WarfaRisk+TM - Warfarin dosage.
For the detection of the following variant alleles:
CYP2C9 (*2 [430C>T], *3 [1075A>C]), VKORC1(-1639G>A, 5417G>T)
Now available from Pronto - new "Hot Start" taq polymerase - ProntoTaq™.
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 announces a major improvement in the protocol of MLPA kits from MRC, all of which now have a new PCR primer mix and one-tube MLPA protocol. By changing the contents of the PCR primer mix, the formation of primer dimers in the MLPA PCR reaction is now almost completely prevented. In addition, the improved PCR primer mix makes it possible to use the complete ligation reaction for the PCR resulting in a simpler procedure using fewer reagents. The new PCR primer mix is therefore accompanied by the introduction of a new MLPA one-tube protocol.
Pronto is offering a new MLPA kit for the simultaneous detection of the SMA and Connexin related genes in one reaction. This kit combines testing for SMA carriers with the testing of several point mutations and copy number changes in the GJB2 and GJB6 genes that are a cause of deafness. Several genetic centers in Israel are currently evaluating this cost-effective kit.
A new PRONTO® Joubert kit has been launched in Israel for the detection of the c.35G>T mutation in the TMEM216 gene.
Patients with Joubert syndrome 2 (JBTS2) suffer from a neurological disease manifested by psychomotor retardation, hypotonia, ataxia, nystagmus, and oculomotor apraxia and variably associated with dysmorphism, as well as retinal and renal involvement. Joubert syndrome typically has an autosomal recessive pattern of inheritance. A single mutation in the TMEM216 gene, c.35G>T, which is predicted to result in the substitution of arginine at codon 12 by leucine (R12L) was found to cause JBTS2. In Ashkenazi Jews, the carrier rate of this mutation was found to be 1:92.
Y-Chromosome Microdeletion Detection System - New F-PCR single run multiplex assay for the detection of 25 regions associated with Azoospermia Factor.
The identification and analysis of Y chromosome deletions is an important research tool for studying male infertility. Deletions in four regions, AZFa, AZFb, AZFc and proximal AZFc (AZFd), are associated with male infertility. The kit amplifies nonpolymorphic short DNA segments of the Y chromosome by using polymerase chain reactions (PCR) and covers the maximum number of possible Y chromosome deletions.
New PRONTO® Pharmacogenetic kits launched in Israel, for screening of polymorphisms which cause poor response to drugs and ADRs. These include:
* PRONTO® ClopidoRiskTM - Clopidogrel metabolism.
For the detection of the following variant alleles:
CYP2C19 (*2,*3,*4,*5), ABCB1 (3435C>T)
* PRONTO® MorphiRiskTM - Morphine dosage.
For the detection of the following variant alleles:
OPRM1 (118A>G), COMT (472G>A)
* PRONTO® WarfaRiskTM - Warfarin dosage.
For the detection of the following variant alleles:
CYP2C9 (*2 [430C>T], *3 [1075A>C]), VKORC1(-1639G>A)
* PRONTO® WarfaRisk+TM - Warfarin dosage.
For the detection of the following variant alleles:
CYP2C9 (*2 [430C>T], *3 [1075A>C]), VKORC1(-1639G>A, 5417G>T)
Now available from Pronto - new "Hot Start" taq polymerase - ProntoTaq™.