OrigoGEN
OrigoGEN The company | Our skills | Why OrigoGEN?
DIAGNOSIS Social benefits | Diseases | Genes | Prices | DNA Submission | Payment
CONTACT Contact us
The company
OrigoGEN applies rigorous scientific knowledge to the genetic diagnoses of ocular diseases. Modern society demands accurate molecular diagnosis, which helps ophthalmologists to identify a particular inherited disorder, establish a prognosis and prescribe appropriate treatment.
The main asset of OrigoGEN is human capital. The scientists behind the company have devoted more than 20 years to basic research at the Universitat de Barcelona (UB), attempting to elucidate the molecular bases of human genetic diseases. We pride ourselves on keeping pace with the latest technological innovations. The sequencing of the human genome is a tremendous leap in scientific knowledge, which has led to the development of multidisciplinary approaches and high-throughput methodologies. We have risen to the challenge of applying these new technical advances to the field of the genetic diagnosis.
The main aim
of OrigoGEN is to make the results of high-quality scientific research available
to doctors and patients.
We offer the following:
personalized diagnosis by qualified professionals
responsible, coordinated, efficient service
guaranteed confidentiality for patients and their families
constant innovation through collaboration with basic scientific research at university, which leads to the incorporation of new techniques and novel gene targets as soon as they are reported
Our skills
OrigoGEN was born out of the coalescence of ideas, necessity, and innovation.
The idea: A group of university scientists and teachers realized that their collective research knowledge on the molecular basis of genetic diseases, such as Retinitis Pigmentosa or glaucoma, would allow them to provide precise molecular diagnoses for patients and their families.
The necessity: Many families have one or more members that are affected by genetic diseases. In many cases they were diagnosed on the basis of clinical symptoms alone. The molecular diagnosis of genetic diseases is a powerful tool for the clinician, as it confirms the clinical diagnosis, and helps to classify patients. This, in turn, offers a more accurate prognosis and helps the doctor to prescribe the most appropriate treatment.
The innovation: The public release of the human genome sequence, together with the development of a host of accompanying high-throughput technologies, has opened new avenues for molecular diagnoses, and consequently, novel perspectives for therapy.
The team
Roser Gonzàlez PhD. Professor in Genetics. Universitat de Barcelona.
20 years experience in the study of the molecular and genetic basis of retinal
dystrophies.
Gemma Marfany PhD. Associate Professor in Genetics. Universitat de Barcelona. 10 years experience in the study of the molecular and genetic basis of retinal dystrophies.
Esther Pomares. Researcher.
Universitat de Barcelona. 5 years experience in the study of the molecular and
genetic basis of retinal dystrophies.
Why OrigoGEN?
The number of companies offering molecular diagnosis is large and growing steadily, following the demands of social pressure. In theory, many companies offer appropriate, albeit globally designed, molecular diagnosis. In some diseases, such as RP, the methodologies available allow only the analysis of the most prevalent genes or the detection of previously reported mutations. In contrast, OrigoGEN uses a high-throughput strategy that allows rapid and cost-effective analysis of all the known RP genes, thus offering a specific and client-centered diagnosis for each family.
This is OrigoGEN’s
priority and commitment:
An individualized, rigorous and accessible genetic diagnosis.
Social benefits
The molecular diagnosis of many genetic diseases was unfeasible until recently.
Most families with affected members suffer the anxiety of uncertainty in the assignment of carriers, with no reliable prenatal diagnosis or even adequate genetic counselling. OrigoGEN was generated to fill this void and we use the current advances in human genetics to offer specific molecular diagnosis for some of the most prevalent genetic eye diseases.
This service is offered to the patients and their families as well as to ophthalmologists specialized in hereditary retinal distrophies and glaucoma, as a means to confirm and complement the clinical diagnosis.
It is worth
noting that preventive treatments derived from precise molecular diagnosis,
as in the case of glaucoma, have a direct effect on two relevant social issues:
to prevent the disease or halt its progression in the patient, and to reduce
costs onto the national health budget. In diseases where no effective treatment
is yet available, such as in Retinitis Pigmentosa, new therapeutic strategies
are being developed every year, mainly designed to minimize the pathogenic effect
of the genetic mutation in the cases where the molecular basis of the disease
is known. These emerging therapies require now, and will require in the future,
an accurate genetic diagnosis, which OrigoGEN can deliver.
Diseases
Goldmann-Favre disease (Enhanced S-cone syndrome)
Leber Congenital Amaurosis - adLCA, arLCA
Pattern macular dystrophies (adult-onset vitelliform dystrophy and butterfly-shaped dystrophy)
Retinitis Pigmentosa: autosomal forms
Sorsby’s pseudoinflammatory dystrophy
This autosomal dominant disease is caused by mutations in the BEST1 gene (also responsible for adult-onset vitelliform macular dystrophies).
OrigoGEN offers
the complete sequencing of the BEST1 coding regions.
This low-prevalence disease is characterized by non-progressive night blindness and, it is caused by mutations in RDH5, a gene expressed in the retinal pigment epithelium.
OrigoGEN offers
the complete sequencing of the RDH5 coding regions.
This is one of the retinal pathologies caused by mutations in ABCA4, a gene also responsible for some forms of the Stargardt’s disease, Retinitis Pigmentosa or cone-rod dystrophy. ABCA4 is a paradigm of allelic heterogeneity, as different mutations cause retinal pathologies showing a range of severity and progression. Fundus Flavimaculatus is similar to the Stargardt’s disease, although with a later age-onset.
ABCA4 is a very long gene and sequencing all he coding regions demands considerable time-cost efforts. Around 500 reported mutations cover approximately 60% of the pathogenic alleles (depending on the population) and there are microarray-based techniques that allow the detection of specific mutant alleles. Current estimations consider that around 2% of the population carry recessive mutations in this gene.
OrigoGEN offers
the analysis and detection of the reported ABCA4 mutations.
Glaucoma is a severe and incapacitating eye disease that affects around 2 to 5% of the population over 50 years. Although complex in ethiology, it is becoming increasingly evident that the genetic component is relevant to the disease, particularly to the primary congenital and the open-angle glaucoma.
Up to now, several loci have been reported to cause glaucoma, but very few causative genes have been identified. Early genetic detection of presymptomatic carriers is crucial to prevent the pathology as the disease is amenable to effective therapy before the optic nerve is irreversibly damaged.
OrigoGEN has designed a molecular diagnostic approach to identify the pathogenic mutations in the main glaucoma-causing genes.
Depending on
the clinical diagnosis, OrigoGEN offers the complete sequencing of the coding
regions of the most relevant candidate genes (MYOC, OPTN, CYP1B1, WDR36).
Goldmann-Favre disease (Enhanced S cone syndrome)
This autosomal recessive pathology is characterized by early-onset night blindness and hypersensitivity to blue light. These traits are due to an increased number of S cones -usually the more unfrequent type of photoreceptors-, which confer sensitivity to blue light at the expense of the other cone subpopulations. Mutations in the NR2E3 gene are responsible for this disease.
OrigoGEN offers
the complete sequencing of the NR2E3 coding regions.
Leber Congenital Amaurosis - adLCA, arLCA
Leber Congenital Amaurosis (LCA), the most prevalent form of retinal dystrophy
in infants, is a monogenic disease that shows an autosomal dominant or autosomal
recessive pattern of inheritance. Thirteen LCA genes have been reported up to
now, but others remain to be identified. As in other retinal dystrophies, the
mode of inheritance of LCA genes depends more on the mutation than the gene
per se. Moreover, some LCA genes are also responsible for other retinal dystrophies,
such as Retinitis Pigmentosa.
OrigoGEN has designed a high-throughput strategy to analyze all the reported LCA and RP genes. Our DNAchip is based on SNP (single nucleotide polymorphisms) genotyping of all the candidate genes. This indirect diagnosis requires the genetic analysis of several family members and only in excepcional cases a single patient can be diagnosed.
The many advantages
of a family study is that it allows the identification of:
i) the pathogenic gene in the patient;
ii) asymptomatic carriers of the same genetic defect, who may pass it on their
descendants;
iii) the healthy family members who are not carriers of the identified genetic
defect.
The complete service includes the genetic diagnosis of all the family members
who submit their sample at the begining of the analysis.
Prior to the formal request for this type of genetic diagnosis, OrigoGEN will study the pedigree of the family and advise on the more adequate analysis, provide instructions for sample preparation, and inform about the total costs and the estimated time to complete the service.
List of the genes responsible for autosomal dominant and recessive LCA (adLCA and arLCA) included in the OrigoGEN service (13 genes)
AIPL1, CEP290,
CRB1, CRX, GUCY2D, IMPDH1, LCA5, LRAT, RD3, RDH12, RPE65, RPGRIP1, TULP1
This low-prelavent disease is caused by mutations in the NDP gene, which is located in the X chromosome. Around 50% of the male patients bearing mutations in NDP also show mental retardation. Notably, some females carrying mutations in NDP in heterozygosis show the clinical symptoms of the disease.
OrigoGEN offers
the complete sequencing of the NDP coding regions.
Pattern macular dystrophies (adult-onset vitelliform dystrophy and butterfly-shaped dystrophy)
Periferin (RDS) is the major causative gene for both adult-onset vitelliform and butterfly-shaped macular dystrophies. There is a second locus involved in the butterfly-shaped dystrophy for which no pathogenic gene has been identified. Besides, there are some vitelliform dystrophies caused by point mutations in the BEST1 gene.
OrigoGEN offers
the complete sequencing of the RDS coding regions.
Retinitis Pigmentosa: autosomal forms
One of the most relevant contributions of OrigoGEN is the family diagnosis of Retinitis Pigmentosa, the most prevalent cause of blindness in adults (1:3000). Our knowledge on the molecular bases of this disease has allowed us to design an original strategy for the indirect genetic diagnosis based on high-throughput techonologies.
The autosomal Retinitis Pigmentosa (RP) forms can be inherited as a dominant or recessive trait, as it is also the case with Leber Congenital Amaurosis (LCA), a more aggressive but similar retinal dystrophy. RP is a monogenic disorder highly heterogeneous at the clinical and genetic level. Up to now, more than 36 RP genes have been reported but, probably, as many remain to be identiffied. As in other retinal dystrophies, different mutations in a particular gene can be inherited following a dominant or recessive pattern. Moreover, several RP genes are also known to cause other retinal pathologies, such as LCA.
OrigoGEN has designed a DNAchip to genotype a set of SNPs (single nucleotide polymorphisms) for all the RP and LCA candidate genes. This indirect diagnosis requires the genetic analysis of several family members and only in excepcional cases a single patient can be diagnosed.
The many advantages
of a family study is that it allows the identification of:
i) the pathogenic gene in the patient;
ii) asymptomatic carriers of the same genetic defect, who may pass it on their
descendants;
iii) the healthy family members who are not carriers of the mutant allele.
The complete service includes the genetic diagnosis of all the family members
who submit their sample at the begining of the analysis.
Prior to the formal request for this type of genetic diagnosis, OrigoGEN will study the pedigree of the family and advise on the more adequate analysis, provide instructions for sample preparation, and inform about the total costs and the estimated time to complete the service.
List of the
genes responsible for autosomal RP in included in the OrigoGEN DNAchip
RP autosomal dominant – adRP (16 genes)
CA4, CRX, FSCN2, GUCA1B, IMPDH1, NR2E3, NRL, PRPF3, PRPF8, PRPF31, RDS, RHO,
ROM1, RP1, RP9, SEMA4A
RP autosomal
recessive – arRP (20 genes)
ABCA4, CERKL, CNGA1, CNGB1, CRB1, LRAT, MERTK, NR2E3, NRL, PDE6A, PDE6B, PRCD,
RGR, RHO, RLBP1, RP1, RPE65, SAG, TULP1, USH2A
This low-prevalence type of retinitis is mainly caused by mutations in the RLBP1 gene.
OrigoGEN offers
the complete sequencing of the RLBP1 coding regions.
Sorsby’s pseudoinflammatory dystrophy
This autosomal dominant retinal dystrophy is mainly caused by mutations in the TIMP3 gene. Although relatively unfrequent it shares many clinical traits with Age-Related Macular Dystrophy (ARMD), the most prevalent disease causing blindness in the elderly.
OrigoGEN offers
the complete sequencing of the TIMP3 coding regions.
Most cases of the Stargardt’s disease are due to mutations in the ABCA4 gene, although there have been few reports of patients bearing mutations in either CNGB3 o ELOVL4. Besides, some ABCA4 mutations cause another retinal dystrophy, similar to the Stargardt’s disease, called Fundus Flavimaculatus. The main difference between these two pathologies is the onset age, while the Stargardt’s disease appears mostly during the first two decades of life, Fundus Flavimaculatus shows a later age of onset.
ABCA4 is a very long gene and sequencing of all the coding regions demands considerable time-cost efforts. Around 500 mutations cover approximately 60% of the pathogenic alleles (depending on the population) and there are microarray-based approaches that allow the detection of reported mutant alleles.
OrigoGEN offers
the analysis and detection of the reported ABCA4 mutations.
Around 15-20% of the Retinitis Pigmentosa cases show X-linked inheritance (XLRP). Up to now, only two RP genes have been identified on chromosome X: RP2 and RPGR. RP2 accounts for approximately 10-20% of all the X-linked RP cases, while RPGR, which contains a mutational hot-spot named ORF15, is responsible for around 70% of the cases (amounting to a 11% of all RP patients). Around 10-20% of XLRP cases (depending on the population) are still unassigned.
Current estimations
suggest that 50% of the male patients are sporadic XLRP cases. Besides, differently
from other X-linked pathologies, some heterozygous carrier women can show the
clinical RP symptoms, although the severity and progression of the pathology
is more variable than in males.
OrigoGEN offers the complete sequencing of all the coding regions of the RP2
and RPGR genes, including exon ORF15.
Prior to the
formal request for this type of genetic diagnosis, OrigoGEN will study the pedigree
of the family and advise on the more adequate analysis, provide instructions
for sample preparation, inform about the total costs and the time needed to
complete the service.
This pathology affects mainly patients of the male gender and its prevalence is estimated around 1:15.000- a 1:30.000. It is caused by mutations in the RS1 gene, which is located in the X chromosome.
OrigoGEN offers
the complete sequencing of the RS1 coding regions.
Genes
ABCA4 | AIPL1 | BEST1 | CA4 | CEP290 | CERKL| CNGA1 | CNGB1 | CRB1 | CRX | CYP1B1 | FSCN2 | GUCA1B | GUCY2D | IMPDH1 | LCA5 | LRAT | MERTK | MYOC | NDP | NR2E3 | NRL | OPTN | PDE6A | PDE6B | PRCD | PRPF3 | PRPF8 | PRPF31 | RD3 | RDH5 | RDH12 | RDS | RGR | RHO | RLBP1 | ROM1 | RP1 | RP2| RP9 | RPE65 | RPGR | RPGRIP1 | RS1 | SAG | SEMA4A | TIMP3 | TULP1 | USH2A | WDR36
ABCA4
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
Moreover, OrigoGEN offers the analysis and detection of the ABCA4 reported mutations (496 mutations).
Stargardt’s disease, Fundus Flavimaculatus
AIPL1
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Leber
Congenital Amaurosis.
Dominant and recessive Leber Congenital Amaurosis
BEST1
Gene responsible for the Best’s disease. OrigoGEN offers the complete
sequencing of all the coding region sequences.
CA4
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
CEP290
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and recessive Leber Congenital
Amaurosis.
Dominant and recessive Leber Congenital Amaurosis
CERKL
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
CNGA1
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
CNGB1
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
CRB1
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa, as well as dominant and recessive Leber Congenital Amaurosis.
Autosomal
dominant and recessive Retinitis Pigmentosa,
Dominant and recessive Leber Congenital Amaurosis
CRX
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa, as well as dominant and recessive Leber Congenital Amaurosis.
Autosomal
dominant and recessive Retinitis Pigmentosa,
Dominant and recessive Leber Congenital Amaurosis
CYP1B1
Gene involved in primary congenital glaucoma. OrigoGEN offers the complete sequencing
of all the coding regions.
FSCN2
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
GUCA1B
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
GUCY2D
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Leber
Congenital Amaurosis.
Dominant and recessive Leber Congenital Amaurosis
IMPDH1
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa, as well as dominant and recessive Leber Congenital Amaurosis
Autosomal
dominant and recessive Retinitis Pigmentosa,
Dominant and recessive Leber Congenital Amaurosis
LCA5
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Leber
Congenital Amaurosis.
Dominant and recessive Leber Congenital Amaurosis
LRAT
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa, as well as dominant and recessive Leber Congenital Amaurosis.
Autosomal
dominant and recessive Retinitis Pigmentosa,
Dominant and recessive Leber Congenital Amaurosis
MERTK
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
MYOC
Gene responsible for the juvenile and adult-onset open-angle glaucoma. OrigoGEN
offers the complete sequencing of all the coding regions.
NDP
Gene responsible for the Norrie’s disease. OrigoGEN offers the complete
sequencing of all the coding regions.
NR2E3
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa, as well as dominant and recessive Leber Congenital Amaurosis.
Autosomal
dominant and recessive Retinitis Pigmentosa,
Dominant and recessive Leber Congenital Amaurosis
Moreover, this gene is also responsible for the Goldmann-Favre’s disease or enhanced S-cone syndrome. OrigoGEN offers the complete sequencing of all the coding regions.
Goldmann-Favre’s disease (Enhanced S-cone syndrome)
NRL
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
OPTN
Gene involved in some cases of the open-angle glaucoma. OrigoGEN offers the
complete sequencing of all the coding regions.
PDE6A
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
PDE6B
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
PRCD
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
PRPF3
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
PRPF8
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
PRPF31
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
RD3
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Leber
Congenital Amaurosis.
Dominant and recessive Leber Congenital Amaurosis
RDH5
Gene responsible for Fundus albipunctatus. OrigoGEN offers the complete sequencing
of all the coding regions.
RDH12
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Leber
Congenital Amaurosis.
Dominant and recessive Leber Congenital Amaurosis
RDS
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
Gene responsible for most pattern macular dystrophies. OrigoGEN offers the complete sequencing of all the coding regions.
Pattern macular dystrophies (adult-onset vitelliform dystrophy and butterfly-shaped dystrophy)
RGR
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
RHO
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
RLBP1
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
Moreover, mutations in the RLBP1 gene cause Retinitis Punctata Albescens. OrigoGEN offers the complete sequencing of all the coding regions.
ROM1
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
RP1
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
RP2
Causative gene of around 10-20% of the X-linked Retinitis Pigmentosa (XLRP).
OrigoGEN offers the complete sequencing of all the coding regions.
RP9
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
RPE65
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa, as well as dominant and recessive Leber Congenital Amaurosis.
Autosomal
dominant and recessive Retinitis Pigmentosa,
Dominant and recessive Leber Congenital Amaurosis
RPGR
Gene responsible for 70-80% of the X-linked Retinitis Pigmentosa (XLRP). OrigoGEN
offers the complete sequencing of all the coding regions, including exon ORF15,
where the majority of the mutations are located.
RPGRIP1
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Leber
Congenital Amaurosis.
Dominant and recessive Leber Congenital Amaurosis
RS1
Gene responsible for the X-linked Retinoschisis. OrigoGEN offers the complete
sequencing of all the coding regions.
SAG
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
SEMA4A
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
TIMP3
Gene responsible for the Sorsby’s pseudoinflammatory dystrophy. OrigoGEN
offers the complete sequencing of all the coding regions.
Sorsby’s
pseudoinflammatory dystrophy
TULP1
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa, as well as dominant and recessive Leber Congenital Amaurosis.
Autosomal
dominant and recessive Retinitis Pigmentosa,
Dominant and recessive Leber Congenital Amaurosis
USH2A
Gene included in the DNAchip of SNPs for the family genetic study (cosegregation
and haplotype analysis) of the autosomal dominant and autosomal recessive Retinitis
Pigmentosa.
Autosomal dominant and recessive Retinitis Pigmentosa
WDR36
Gene involved in some cases of the open-angle glaucoma. OrigoGEN offers the
complete sequencing of all the coding regions.
Prices
VAT not included
• Autosomal
Retinitis Pigmentosa (family analysis)
1st phase: DNAchip cosegregation analysis
1.835 €
2nd phase: designed upon demand
• Best’s disease
800 €
• Fundus Albipunctatus
600 €
• Fundus Flavimaculatus
500 €
• Goldmann-Favre disease
(Enhanced S-cone syndrome)
600 €
• Leber Congenital Amaurosis (family analysis)
1st phase: DNAchip cosegregation analysis
1.835€
2nd phase: designed upon demand
• Norrie’s disease
600 €
• Open-angle glaucoma
1.400 €
• Pattern macular dystrophies
(adult-onset vitelliform and butterfly-shaped)
600 €
• Primary congenital
glaucoma
920 €
• Sorsby’s pseudoinflammatory
dystrophy
600 €
• Stargardt’s disease
500 €
• X-linked Retinitis Pigmentosa
1.135 €
• Retinitis Punctata
Albescens
600 €
• X-linked retinoschisis
600 €
ADDITIONAL SAMPLES 200 €
(non-applicable to the family analyses with the DNAchip)
DNA submission
Type
of samples
The type of samples required is purified DNA (minimum quantity, 10 ug), at
a concentration of 100-250 ng/ul. DNA should be resuspended in pure sterile
water. DNA in aqueous solution within sterile tubes, protected with parafilm
or any similar material to avoid evaporation, is stable in the fridge indefinitely.
Sample
submission
For rapid and secure delivery, international courier services, such as DHL,
UPS, MRW and FedEx, are strongly recommended.
Address for submissions:
Dra. Roser
González
Departament de Genètica
Facultat de Biologia (edifici annex, planta 2)
Universitat de Barcelona
Avda. Diagonal 645
E-08028 Barcelona
SPAIN
Once the information and data required for the analysis has been gathered from the client and/or family (among them, name, phone number, postal and electronic addresses), our geneticists will propose the more adequate molecular diagnosis approach for the case and issue a formal offer, comprising prices and a timeframe. This offer should be signed by the client and sent back in acceptance of the conditions prior to sending any sample. This signed offer will be considered a commitment from both parts: OrigoGEN, to provide the diagnosis within the proposed timeframe and total costs, together with the inherent genetic counselling; and the client, to pay the invoice for this service.
The invoice
will be issued once the results have been obtained but before the informative
meeting to deliver the molecular diagnosis and perform any genetic counselling.
The payment should be made effective by bank transfer to an account number
provided in the invoice.
FAQ
1) I have been diagnosed of one type of retinal dystrophy but I am the only case in my family. May I be diagnosed in OrigoGEN?
Yes, we can
offer the diagnosis of single cases for the following diseases: patterned macular
dystrophy (vitelliform and butterfly-shaped), Sorsby’s pseudoinflammatory
dystrophy, Best disease, Goldmann-Favre disease, Norrie disease, Stargardt macular
dystrophy, Fundus Albipunctatus, Fundus Flavimaculatus, Glaucoma, Retinosis
Punctata Albescens, and X-linked Retinoschisis.
2) I have been diagnosed of Retinitis Pigmentosa. Which are the minimal requirements to be diagnosed in OrigoGEN?
X-linked
Retinitis Pigmentosa diagnosis: We can offer molecular diagnosis for
X-linked RP, even when only a single patient is available. Nonetheless, a more
ample familiar study is recommended in order to detect putative carriers or
asymptomatic family members (sisters, brothers... ).
Autosomal recessive Retinitis Pigmentosa diagnosis: In most
cases, Retinitis Pigmentosa molecular diagnosis requires a family study and
cannot be performed on single patients. A minimum requisite
would be the analysis of two patients in addition to both parents, or two patients
with two non-affected direct siblings. The more samples are available for the
study, the more precise the analysis will be.
In families where the parents are consanguineous, we might exceptionally consider the diagnosis of single patients after analysis of the family pedigree.
The price of the diagnoses INCLUDES the analysis of all the family members whose samples have been sent prior the beginning of the analysis.
Autosomal dominant Retinitis Pigmentosa diagnosis: Again this molecular diagnosis requires a family study and cannot be performed on single patients. A minimum requisite would be the analysis of at least two affected patients from the same family, together with more than one non-affected direct sibling. Nonetheless, the more affected samples are available for this study, the more precise the analysis will be.
The price of
the diagnoses INCLUDES the analysis of all the family members whose samples
have been sent prior the beginning of the analysis.
3) I have been diagnosed of Leber Congenital Amaurosis. Which are the minimal requirements to be diagnosed in OrigoGEN?
The molecular diagnosis of either dominant or recessive Leber Congenital Amaurosis requires a family study and cannot be performed on single patients. A minimum requisite would be the analysis of two patients with the parents, or two patients with two non-affected direct siblings. However, the more samples from affected members are available for this study, the more precise the analysis will be.
In a family where the parents are consanguineous, we might exceptionally consider the diagnosis of single patients after analysis of the family pedigree.
The price of the diagnoses INCLUDES the analysis of all the family members whose samples have been sent prior the beginning of the analysis.
For any other question and doubt concerning OrigoGEN molecular diagnostics,
you can contact our geneticists at,
info@origogen.com
Links
Fundaluce
Fundación lucha contra
la ceguera
http://www.retinosis.org
Universitat de Barcelona, UB
http://www.ub.edu
CONTACT
EMAIL:
info@origogen.com PHONE NUMBER: + 34 616 75
00 32 FAX: +34 93 403 44 20 Dra. Roser Gonzalez
NAME AND ADDRESS:
Departament de Genètica
Edifici annex, 2ª planta
Facultat de Biologia
Universitat de Barcelona
Avda. Diagonal, 645
08028-Barcelona
Spain