Genotyping

What Genotyping does

Genotyping Diagnósticos Genéticos is a Brazilian clinical genetics laboratory founded in 2008 in Botucatu, São Paulo, as a spin-out from the UNESP Botucatu technology incubator by founder and CEO Débora Colombi. The company operates a single laboratory equipped with Illumina MiSeq and NextSeq platforms for Next Generation Sequencing, Thermo Fisher Ion S5 for NGS, ABI3500 for Sanger sequencing, plus MLPA and CGH-array/SNP-array capabilities, and offers a comprehensive menu of human-genome molecular analyses covering hereditary cancer (BRCA1/2 and a 16-gene expanded panel), hereditary cardiology, whole-exome sequencing, prenatal screening via its flagship GenoNIPT (non-invasive prenatal test, >99.9% trisomy 21 accuracy), and testing for Duchenne muscular dystrophy, cystic fibrosis, Fragile X, osteogenesis imperfecta, thrombophilia, retinoblastoma (RB1), and spinal muscular atrophy (SMN1/SMN2).

The business model is essentially a fee-for-service clinical laboratory reimbursed predominantly through accredited health-plan operators (convênio) under the Brazilian ANS regulatory framework, which mandates in-country testing for coverage of items such as BRCA1/2 sequencing/MLPA (110.7) and the hereditary-cancer panel (110.26). Patients without insurance can pay out-of-pocket with installment options. All tests require physician prescription, and the go-to-market motion is physician-referral: oncologists, mastologists, cardiologists, neurologists, pediatricians, obstetricians, and geneticists identify clinically eligible patients and refer them, supported by a dedicated physician communication channel (Canal do Médico) for test selection and results interpretation. Nationwide distribution is enabled via mailed saliva, blood, and filter-paper sample-collection kits.

The Genotyping Group also holds sister company BPI – Biotecnologia Pesquisa e Inovação, which provides industrial and academic genomic services (e.g., the LeveID yeast-identification marker used by 30 sugar/ethanol mills across five Brazilian states, plus metagenomics and research support). Genotyping is certified annually by the European Molecular Genetics Quality Network (EMQN), supports physician education through a dedicated blog and Pint of Science sponsorship in Botucatu, and operates with a lean headcount of approximately 10 employees (half with advanced degrees) after receiving a 2015 investment from the Fundo de Inovação Paulista managed by SP Ventures.

Name

Genotyping

Legal name

Genotyping Diagnósticos Genéticos

Website

https://genotyping.com.br

Company type

Private

Founded year

2008

Operating status

Operating

Headcount range

1–10 employees

Short description

Genotyping Diagnósticos Genéticos is a Brazilian clinical genetics laboratory in Botucatu founded in 2008, performing NGS, Sanger, MLPA, and CGH-array-based molecular diagnostic tests for hereditary cancer, cardiology, prenatal, exome, and rare-disease panels, reimbursed primarily through accredited Brazilian health-plan operators and ordered via physician referral.

Ownership category

akta.pro rank

Product category

Clinical Genetic Diagnostics

NAICS

Medical Laboratories (621511)

SIC

Services-Medical Laboratories (8071)

akta.pro primary industry

Molecular Diagnostics & Genomics Laboratories (HLAFAMAE)

akta.pro secondary industries

Genetic & Prenatal Testing Laboratories (HLAFAMAH), Genetic & Genomic Testing (germline, somatic, carrier, pharmacogenomics) (HLAAALAD), Genomic & Multi-Omic Biomarkers (NGS panels, transcriptomics, proteomics, metabolomics) (HLAAAMAJ), Genetic, Cytogenetic & Prenatal Screening IVD (HLAHAAAI)

Keywords

• Genetic diagnostic testing
• Next generation sequencing
• Hereditary cancer testing
• Non-invasive prenatal testing
• Molecular pathology services

Headquarters

HQ city

Botucatu

HQ country

Brazil

HQ region

Latin America

Offices1 record

Markets served

GTM type

B2B

Offering type

Services

Cost components

Personnel, Technology or R&D, Operations, Marketing or Sales, Others

Revenue model

1. Genetic diagnostic testing services: Genotyping operates as a clinical laboratory performing molecular genetic tests for healthcare providers and patients. Revenue is generated through laboratory diagnostic service fees. Tests are billed per examination, with prices varying by test type (single gene, gene panels, exome, CGH-array, MLPA). Health insurance (convênio) reimbursement from accredited operators is a significant revenue channel. For uninsured patients, direct out-of-pocket payment is available with installment options.
2. B2B genomic services (via BPI sister company): The Group Genotyping also serves industrial and research clients through BPI – Biotecnologia Pesquisa e Inovação, providing high-technology genomic services to industries, universities, and research institutes, including yeast strain identification (LeveID marker) and metagenomics.

Pricing tiers

Go-to-market motion2 records

Distribution channels3 records

Marketing channels5 records

Core offering

Genotyping is a specialized Brazilian molecular genetics clinical laboratory performing human genome analyses using next-generation sequencing, Sanger sequencing, MLPA, and CGH-array / SNP-array. The lab delivers physician-ordered diagnostic tests covering non-invasive prenatal screening, hereditary cancer predisposition, hereditary cardiomyopathies, exome sequencing, and targeted disease panels for cystic fibrosis, Duchenne muscular dystrophy, Fragile X, osteogenesis imperfecta, spinal muscular atrophy, retinoblastoma, and hereditary thrombophilia. Through sister company BPI it also provides industrial and academic genomic services including yeast strain identification (LeveID) and metagenomics.

Product overview

Genotyping Diagnósticos Genéticos is a specialized genetic testing laboratory operating since 2008, offering a comprehensive portfolio of molecular genetic analyses for human health. The company's services are organized around distinct testing categories: GENONIPT for non-invasive prenatal testing; oncology panels including BRCA1/BRCA2 and expanded hereditary cancer panels; cardiology tests for hereditary cardiomyopathies; whole exome sequencing; CGH-Array chromosomal analysis; MLPA testing for copy number variations; and specific disease panels for conditions such as cystic fibrosis, Duchenne muscular dystrophy, Fragile X syndrome, thrombophilia, and spinal muscular atrophy. All tests are performed domestically in Brazil using modern molecular analysis platforms including Illumina MiSeq, NextSeq, Ion S5, and ABI3500 Sanger sequencers.

Differentiator

Problem solved

Functional benefit

Products and services

• GenoNIPT Non-invasive prenatal test (NIPT) that analyzes fetal DNA in maternal blood from the 10th week of pregnancy to detect chromosomal abnormalities such as Down syndrome with >99.9% precision; also verifies sex chromosome alterations; aimed at obstetricians, geneticists and expectant parents meeting clinical criteria.
• Oncology Genetic Tests — Hereditary Cancer Panels NGS-based hereditary cancer predisposition panels covering BRCA1/BRCA2, expanded breast/ovarian (BRCA1, BRCA2, TP53, PTEN, CDH1, MLH1, MSH2, MSH6, PMS2, ATM, BRIP1, CHEK2, PALB2, RAD51C, RAD51D, STK11), colorectal/Lynch syndrome and Li-Fraumeni syndrome panels; targeted at oncologists, mastologists and patients meeting clinical criteria.
• Hereditary Cardiology Tests NGS multi-gene panel testing for hereditary cardiomyopathies and cardiovascular disease predisposition; intended for cardiologists and their patients with suspected inherited cardiac conditions.
• Exome Sequencing Clinical whole exome sequencing via NGS for diagnosis of heterogeneous or unclear genetic diseases; ordered by geneticists, neurologists and pediatricians for complex or undifferentiated cases.
• CGH-Array / SNP-array Comparative genomic hybridization microarray detecting chromosomal gains and losses across the whole genome in a single assay; used for diagnosis of chromosomal alterations with greater sensitivity and specificity than conventional cytogenetics.
• MLPA Testing Multiplex Ligation-dependent Probe Amplification (MLPA) testing for detection of deletions, duplications and copy number variations across multiple genes simultaneously; used for conditions such as BRCA1/2 hereditary cancer, MSH2/MLH1 Lynch syndrome, DMD, SMA and NF1.
• Genetic Disease Panels Targeted genetic testing panels for specific hereditary diseases including Duchenne Muscular Dystrophy (DMD gene), Cystic Fibrosis (CFTR), Osteogenesis Imperfecta, Fragile X Syndrome (FMR1), and Spinal Muscular Atrophy (SMN1/SMN2).
• Hereditary Thrombophilia Testing Genetic analysis of hereditary thrombophilia markers including Factor V Leiden (F5), Prothrombin gene mutation (F2 G20210A) and MTHFR; used by hematologists, obstetricians and specialists managing thrombotic risk.
• RB1 Gene Sequencing Targeted sequencing of the RB1 tumor suppressor gene for diagnosis of retinoblastoma and assessment of familial cancer risk; ordered by oncologists, geneticists and pediatric specialists.
• SMN1 and SMN2 Testing Genetic analysis of the SMN1 and SMN2 genes for diagnosis and classification of Spinal Muscular Atrophy; ordered by neurologists, geneticists and pediatricians.
• BPI Genomic Services (Industrial & Research) Industrial and academic genomic services delivered through sister company BPI – Biotecnologia Pesquisa e Inovação including yeast strain identification (LeveID marker), metagenomics for bacterial contamination monitoring, and custom genome sequencing, variant discovery and transcriptomics; sold to sugar/ethanol mills, universities, research institutes, and agricultural, health and food sector companies.

Quantifiable outcome

• GenoNIPT detects trisomy 21 with >99.9% accuracy
• +3 more outcomes

Named customers3 records

Segments2 records

Ideal customer profiles2 records

Technology focussed No

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Feature4 records

Partnerships

Seven partnerships are on record, tiered minor and core.

• Pint of Science (International Science Festival)minorGTM or Marketing Partner · 1 May 2017Genotyping is the official sponsor of the Pint of Science festival in Botucatu. The festival brings scientific knowledge to the general public through informal conversations in bars and cafes, with participation from 11 countries and 22 Brazilian cities.
• BPI – Biotecnologia Pesquisa e InovaçãocoreStrategic or Co-development PartnerBPI – Biotecnologia Pesquisa e Inovação is the sister company within the Genotyping Group holding. It provides high-technology genomic services to industries, universities, and research institutes. Both companies share the genomics and innovation focus and have complementary customer bases (human health vs. industrial/research).
• UNESP Botucatu (Universidade Estadual Paulista)minorStrategic or Co-development PartnerGenotyping was founded in 2008 as part of the UNESP Botucatu technology incubator. The company's origin in academia provides ongoing research connections and access to scientific talent.
• Health insurance operators (Unimed, SulAmérica, Bradesco Saúde, Saúde Caixa, Mediservice, Economus, SOMPO Seguros)coreChannel Partner/ Reseller/ DistributorGenotyping is accredited with major Brazilian health insurance operators enabling insurance reimbursement for genetic tests. These operators refer insured patients who meet clinical criteria for genetic testing to Genotyping's services.
• IlluminacoreTechnology or IntegrationIllumina is a major diagnostic technology company providing sequencing platforms. Genotyping uses Illumina's MiSeq and NextSeq platforms for NGS sequencing, which enables parallel analysis of multiple genes in a single test.
• Thermo Fisher ScientificcoreTechnology or IntegrationThermo Fisher Scientific provides sequencing platforms including Ion S5 (for NGS) and ABI3500 (for Sanger sequencing), which Genotyping uses for genetic testing services.
• ICESP – Instituto do Câncer do Estado de São PaulominorStrategic or Co-development PartnerGenotyping researcher Daíse Sas collaborated with oncologist Ana Carolina Gouvea from ICESP's Hereditary Cancer Outpatient Clinic in a live interview on cancer genetics and testing, demonstrating clinical collaboration in the hereditary cancer space.

Scale indicators5 records

Recent moves6 records

Expansion highlights6 records

Direct peers

• Natera: US-based molecular diagnostics company focused on NIPT (Panorama) and oncology genetics (Signatera), the direct international comparator for GenoNIPT and hereditary cancer panels — although its US-centric footprint limits direct Brazilian competition.
• GeneDx: US clinical genetics laboratory offering exome sequencing, hereditary cancer panels (including BRCA), and pediatric/race genetic testing with EMQN-equivalent quality programs — the closest international analogue to Genotyping's test menu and physician-referred model.
• Mendelics Análise Genômica: Brazilian clinical genomics laboratory focused on molecular diagnostics for hereditary diseases, oncology genetics (including BRCA), and NIPT — directly comparable to Genotyping in product mix, customer base (physicians/insurers), and NGS-based delivery in Brazil.

Regional players

• Centogene: Germany-based rare disease and genetic diagnostics laboratory with multiomic testing in markets including Latin America; comparable in exome and rare disease diagnostics focus to Genotyping's human-genetics operations.

Broad incumbents

• Hermes Pardini: Large Brazilian diagnostic laboratory network (now part of Dasa) providing molecular and genetic tests alongside routine diagnostics; a broad incumbent that competes for the same physician-referred and insurer-paid genetic testing volume.
• Dasa: Brazil's largest diagnostic medicine company, offering genetic and molecular diagnostics alongside routine clinical laboratory services; competes for physician referrals and health-insurance contracts across Brazil on a much larger scale.
• Fleury Medicina e Saúde: Major Brazilian diagnostics chain offering molecular and genetics tests among broader clinical and anatomic pathology services; competing reference lab with national reach and multi-specialty physician relationships.

Emerging players

• Invitae: Clinical genetics company delivering hereditary cancer, cardiology, and rare disease NGS panels globally; comparable in test menu and physician-direct sales model, though primarily serving US/European markets.
• Sophya Genetics: Genomics/CEDAR platform for clinical NGS analysis; partners with Brazilian and Latin American laboratories for NGS interpretation and reporting, making it an adjacent collaborator/competitor in the molecular diagnostics stack.

Others

• NAGENE (Núcleo de Genômica e Bioinformática): Brazilian genomics service provider offering NGS and molecular genetics services to researchers and clinical customers; overlapping capability with Genotyping's B2B services (NGS panels, exome) but primarily research-oriented rather than consumer physician-referred genetics.

Market position

Strengths5 records

Weaknesses5 records

Competitive moat5 records

Key risks6 records

Key highlights7 records

Customer concentration

• Xx.com/genotyping_sp
• Facebookfacebook.com/genotypingdiagnosticosgeneticos

Compliance2 records

Revenue estimate

Valuation estimate

Number of profiles

Profiles3 records

Subsidiaries1 record

Funding overview

Funding rounds1 record

Investors1 record

Funding detail is available on the Subscription and Enterprise plan.Contact sales →

M&A

Investments

M&A and investment is available on the Subscription and Enterprise plan.Contact sales →

Frequently asked questions about Genotyping