Centro de Genética Preditiva e Preventiva do IBMC

Name

Centro de Genética Preditiva e Preventiva do IBMC

Legal name

CGPP-IBMC – Centro de Genética Preditiva e Preventiva do Instituto de Biologia Molecular e Celular

Website

https://cgpp.pt

Company type

Private

Founded year

1999

Operating status

Operating

Headcount range

11–50 employees

Ownership category

akta.pro rank

Product category

Clinical Genetic Testing Services

NAICS

Medical Laboratories (621511), Medical and Diagnostic Laboratories (62151), Medical and Diagnostic Laboratories (6215)

SIC

Services-Medical Laboratories (8071), Services-Health Services (8000)

akta.pro primary industry

Molecular & Genetic Testing (PCR/NGS/qPCR) (HLAGADAF)

akta.pro secondary industries

Molecular Diagnostics & Genomics Laboratories (HLAFAMAE), Prenatal, Newborn & Reproductive Diagnostics (NIPT, IVF/PGT, newborn screening) (HLAAALAJ), Population Genomics & Preventive Precision Health Programs (HLAAANAL), Genetic, Cytogenetic & Prenatal Screening IVD (HLAHAAAI)

Keywords

• Clinical genetic testing
• Molecular diagnostics
• Genetic counseling
• Whole exome sequencing
• Hereditary disease screening

Headquarters

HQ city

Porto

HQ country

Portugal

HQ region

Europe

Offices1 record

Markets served

GTM type

B2B and B2C

Offering type

Services

Cost components

Personnel, Technology or R&D, Operations, Infrastructure

Revenue model

1. Genetic Testing Services: Laboratory genetic testing services including whole exome sequencing, clinical exome (Mendelioma), multi-gene panels, Sanger/MLPA, and specialized tests like PreConcecional+. Revenue generated through clinical laboratory services billed to healthcare systems or patients.
2. Clinical Consultations: Medical consultations in specialties including Medical Genetics, Neurology, Neuropediatrics, Hematology, Clinical Psychology, and Genetic Counseling. Available as in-person or video consultations.

Go-to-market motion1 record

Distribution channels3 records

Marketing channels6 records

Core offering

CGPP-IBMC provides laboratory molecular genetic testing (WES, clinical exome Mendelioma, trio exome TRIOGen, multi-gene panels, long-read WGS, Sanger/MLPA, preconception carrier screening) combined with specialized clinical consultations in medical genetics, neurology, neuropediatrics, hematology, clinical psychology and genetic counseling. The center delivers predictive, preventive and diagnostic genetic services for patients with suspected hereditary diseases, couples planning pregnancy, and families requiring cascade testing, supported by an in-house bioinformatics reanalysis pipeline and a Portuguese-population reference exome database.

Product overview

CGPP-IBMC offers a comprehensive portfolio of genetic testing services and specialized medical consultations. The core offering centers on advanced molecular genetic diagnostics including Whole Exome Sequencing (WES), Clinical Exome (Mendelioma), Trio Exome Sequencing (TRIOGen), Long-Read Whole Genome Sequencing (LR-WGS), and targeted MultiGene Panels. Supporting services include Sanger sequencing, MLPA, bioinformatics reanalysis of previously sequenced exomes, and specialized LR-Seq for movement disorders. The center provides clinical consultations across Medical Genetics, Neurology, Neuropediatrics, Clinical Psychology, Genetic Counseling, and Hematology. The PreConcecional+ preconception carrier screening test extends the portfolio into preventive genetic health. Services are available as in-person consultations or video consultations. The product architecture operates as a unified laboratory-plus-clinic model where diagnostic testing services and clinical consultations are integrated to provide comprehensive genetic care from diagnosis through genetic counseling.

Differentiator

Problem solved

Functional benefit

Brands

• PreConcecional+: Pre-conception genetic carrier screening test for recessive diseases
• Mendelioma
• TRIOGen
• Neuroexoma

Products and services

• Genetic Testing Services (Testes Genéticos) Comprehensive molecular genetic testing laboratory services for hereditary diseases, supporting patients and family members at risk across multiple specialties.
• Sanger and MLPA Testing Targeted genetic analysis using Sanger sequencing and MLPA (Multiplex Ligation-dependent Probe Amplification) for specific gene mutations.
• Whole Exome Sequencing (WES) Whole Exome Sequencing service analyzing all protein-coding regions of the genome to identify disease-causing variants for diagnostic workup.
• MultiGene Panels (Painéis MultiGene) Targeted gene panels built on WES technology that analyze multiple genes associated with specific disease categories for focused diagnostic testing.
• Mendelioma | Clinical Exome Flagship clinical exome test analyzing 9,232 nuclear genome genes (SNV and CNV) and 37 mitochondrial genome genes for diagnosis of rare diseases.
• PreConcecional+ Preconception Carrier Screening Preconception carrier screening test analyzing hundreds of genes associated with recessive diseases for individuals or couples planning pregnancy.
• TRIOGen (Trio Exome Sequencing) Trio Whole Exome Sequencing service analyzing genetic variants in parent-child trios for improved identification of de novo mutations and inheritance patterns.
• Neuroexoma Targeted exome sequencing focused on genes associated with neurological disorders for diagnosis of neurogenetic diseases.
• Long-Read Whole Genome Sequencing (LR-WGS) Long-Read Whole Genome Sequencing service using Oxford Nanopore technology for more complete and precise variant detection in complex regions and structural rearrangements.
• Exome Bioinformatics Reanalysis Bioinformatics reanalysis of previously sequenced exomes using updated pipelines and newly discovered gene-disease associations to generate new diagnostic findings.
• LR-Seq Doenças do Movimento (Movement Disorders Long-Read Sequencing) Long-read sequencing service for genetic diagnosis of movement disorders, providing comprehensive analysis of the mutational spectrum with greater precision.
• Specialized Clinical Consultations Specialized medical consultations in Medical Genetics, Neurology, Neuropediatrics, Clinical Psychology, Genetic Counseling, and Hematology, available in-person or by video consultation.

Quantifiable outcome

• 9% molecular diagnosis rate for hereditary dystonia in cohort of 271 patients
• +1 more outcomes

Named customers8 records

Segments4 records

Ideal customer profiles4 records

Technology focussed Yes

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Feature5 records

Partnerships

Nine partnerships are on record, tiered minor and core.

• SPGP - Sociedade Portuguesa de Gastroenterologia, Hepatologia e Nutrição PediátricasminorStrategic or Co-development Partner · 1 January 2024Collaboration on development of genetic testing request form for hepatic steatosis, working with the Hepatology section of SPGP.
• Gen-Equip (Genetic Education for Primary Care)minorStrategic or Co-development Partner · 1 January 2017CGPP is a partner in the Gen-Equip project, which provides free online genetics courses for primary healthcare professionals. The project offers 8 online modules accessible to all healthcare workers.
• IBMC - Instituto de Biologia Molecular e CelularcoreStrategic or Co-development Partner · 1 January 1999CGPP is an integral part of IBMC (Instituto de Biologia Molecular e Celular) at the University of Porto. This institutional relationship provides access to research infrastructure, academic collaboration, and integration within the Portuguese scientific ecosystem.
• i3S - Instituto de Investigação e Inovação em SaúdecoreStrategic or Co-development PartnerCGPP is co-located within i3S, the Institute for Research and Innovation in Health at University of Porto. Joint activities include training courses, scientific events, and research collaborations.
• EuroBloodNetminorStrategic or Co-development PartnerCGPP follows EuroBloodNet guidelines for molecular genetic diagnosis of hereditary hemochromatosis and rare iron metabolism disorders. Adaptation of referral forms based on EuroBloodNet standards.
• reproSCREEN consortiumminorStrategic or Co-development PartnerNational project developed with other centers to provide a national program for preconception screening of recessive diseases for Portuguese couples.
• Hospital Dona Estefânia (ULS São José)coreStrategic or Co-development PartnerAnnual Neurogenetics meetings organized in collaboration with Pediatric Neurology and Medical Genetics services. Long-standing partnership for case discussion and clinical collaboration.
• GenomePT consortiumminorStrategic or Co-development PartnerParticipation in GenomePT, a national consortium for genomics research and services in Portugal.
• Patient Associations NetworkminorStrategic or Co-development PartnerPartnership with various patient associations including APFADA, AAAMJD, APAHE, APDH, APDPk, APELA, APP for awareness events, documentaries, and rare disease advocacy.

Scale indicators7 records

Recent moves6 records

Expansion highlights5 records

Regional players

• Reference Genetics (CGPP-referenced hospital genetics services): Portuguese hospital-based genetics services (e.g., Centro Hospitalar Universitário de São João) compete with CGPP for clinical genetics referrals in Portugal, providing comparable local genetic testing and consultation services within the same geographic market.

Direct peers

• PreventionGenetics: PreventionGenetics is a clinical genetic testing laboratory offering comprehensive NGS-based testing including whole exome sequencing and carrier screening, with overlapping offerings to CGPP's clinical exome and preconception screening services.
• GeneDx: GeneDx is a clinical genetic testing laboratory offering whole exome sequencing, trio exome analysis, and rare disease diagnostics, directly comparable to CGPP's Mendelioma, TRIOGen, and multi-gene panel offerings.
• Centogene: Centogene is a clinical genomics company specializing in rare disease diagnostics using exome and genome sequencing, with a comparable focus on neurogenetics and hereditary disease testing similar to CGPP's clinical exome and neurogenetics services.
• Blueprint Genetics: Blueprint Genetics (a Quest Diagnostics company) provides clinical genetic testing for hereditary diseases using NGS-based panels and exomes, with a comparable specialty in rare disease diagnostics and overlap with CGPP's clinical exome services.

Broad incumbents

• Natera: Natera is a genetic testing company with significant focus on reproductive and hereditary disease testing, comparable to CGPP's PreConcecional+ carrier screening and trio exome services.
• Invitae: Invitae (now part of Labcorp) is a large-scale genetic testing company offering comprehensive panels, exomes, and proactive screening, with overlapping services to CGPP's clinical exome and carrier screening products.
• Eurofins Genomics: Eurofins Genomics is a major European genomics services provider offering Sanger sequencing, NGS, and other molecular biology services, comparable to CGPP's Sanger/MLPA and NGS-based testing capabilities but at significantly greater scale.
• Synlab: Synlab is one of Europe's largest medical diagnostic service providers operating clinical laboratories across multiple countries, including Portugal, providing comparable clinical laboratory services at a much larger scale than CGPP.
• Myriad Genetics: Myriad Genetics is an established genetic testing company with broad hereditary disease and reproductive health offerings, comparable to CGPP's genetic testing portfolio but operating at vastly larger commercial scale.

Market position

Strengths5 records

Weaknesses4 records

Competitive moat6 records

Key risks5 records

Key highlights7 records

Customer concentration

• Facebookfacebook.com/CGPP.IBMC
• LinkedInlinkedin.com/company/cgpp-ibmc

Compliance1 record

Revenue estimate

Valuation estimate

Number of profiles

Profiles5 records

Funding overview

Funding rounds

Investors

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M&A

Investments

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Frequently asked questions about Centro de Genética Preditiva e Preventiva do IBMC