DLE - Genética Humana, Doenças Raras e Genômica

What DLE - Genética Humana, Doenças Raras e Genômica does

DLE - Genética Humana, Doenças Raras e Genômica is a Brazilian clinical genetics reference laboratory founded approximately three decades ago in Rio de Janeiro and operating as a subsidiary of Grupo Pardini within the broader Grupo Fleury diagnostic network. The company provides a specialized menu of human genetics, rare disease, and genomic tests to hospitals, maternity hospitals, genetics clinics, referring physicians, pharmaceutical and healthcare companies, and direct patients across Brazil through its B2B ordering channel, telephone client service line, and direct-to-consumer home collection.

Its core products include newborn screening (Teste do Pezinho) including SMA, SCID, and lysosomal disease panels; non-invasive prenatal screening (NIPT/Prenateste®) and fetal risk testing; molecular genetics panels for hereditary cancer (BRCA1/2, APC, ATM, etc.), cardiovascular disease, thrombophilia, and lactose intolerance; complete exome sequencing combined with mitochondrial DNA sequencing; cytogenomics via karyotyping and chromosomal microarray (CMA); and biochemical genetics/inborn errors of metabolism investigation using tandem mass spectrometry (MS/MS), gas chromatography-mass spectrometry (GC/MS), MLPA, and proprietary urinary organic acid analysis validated under ACMG guidelines with ERNDIM proficiency testing. Specialized branded offerings include Neuro MetaTest™ for late-onset treatable metabolic diseases, UTI Test Combinado for critically ill infants in NICU/PICU, and the DLE Collect™ filter paper and dried swab system enabling room-temperature nationwide sample transport without cold chain.

DLE generates revenue on a fee-for-service basis per test or panel billed to healthcare providers, with pricing negotiated through direct accounts, health plans, and its dedicated client service channel. GTM is sales-led and B2B-centric, supplemented by scientific content marketing, medical congress participation, and the Medicina Personalizada shared digital channels of Grupo Pardini. Customer segments span healthcare providers (primary), pregnant women and families (secondary), and healthcare companies/pharmas (secondary).

Name

DLE - Genética Humana, Doenças Raras e Genômica

Legal name

DLE - Genética Humana, Doenças Raras e Genômica

Website

https://dle.com.br

Company type

Private

Founded year

1994

Operating status

Operating

Headcount range

51–100 employees

Short description

DLE is a Brazilian clinical genetics reference laboratory, part of Grupo Pardini/Fleury, providing newborn screening, NIPT, metabolic profiling, molecular genetics panels, and rare disease diagnostics to hospitals, physicians, pharma, and patients across Brazil via proprietary room-temperature sample collection.

Ownership category

akta.pro rank

Product category

Clinical Genetic Diagnostics

NAICS

Medical Laboratories (621511)

SIC

Services-Medical Laboratories (8071)

akta.pro primary industry

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

akta.pro secondary industry

Prenatal, Newborn & Reproductive Diagnostics (NIPT, IVF/PGT, newborn screening) (HLAAALAJ)

Keywords

• Clinical genetics laboratory
• Newborn screening services
• Prenatal screening tests
• Metabolic disease diagnostics
• Rare disease testing

Headquarters

HQ city

Rio de Janeiro

HQ country

Brazil

HQ region

Latin America

Offices1 record

Markets served

GTM type

B2B

Offering type

Services

Cost components

Personnel, Operations, Technology or R&D, Marketing or Sales, Infrastructure, Supply Chain

Revenue model

1. Clinical Genetic Diagnostic Testing Services: DLE operates as a clinical genetics laboratory offering a comprehensive menu of diagnostic genetic and metabolic tests to healthcare providers (hospitals, clinics, physicians) and patients across Brazil. Revenue is generated on a fee-for-service (test-by-test) basis, with individual tests and panel profiles billed per examination.

Go-to-market motion1 record

Distribution channels3 records

Marketing channels5 records

Core offering

DLE is a Brazilian clinical genetics reference laboratory that performs specialized diagnostic tests for human genetics, rare diseases, inborn errors of metabolism, newborn screening (Teste do Pezinho), and non-invasive prenatal screening (NIPT). It delivers results on a fee-for-service, test-by-test basis using tandem mass spectrometry (MS/MS), GC/MS, next-generation sequencing (NGS), chromosomal microarray and MLPA, and supports nationwide reach through its proprietary DLE Collect™ filter paper and dried swab sample transport system that removes the need for refrigeration.

Product overview

DLE - Genética Humana, Doenças Raras e Genômica is a Brazilian genetics laboratory offering a comprehensive portfolio of genetic and metabolic testing services. The core offerings include newborn screening (Teste do Pezinho), non-invasive prenatal screening (NIPT/Prenateste®), and Teste de Risco Fetal. The company provides molecular biology services (Biologia Molecular/Genética Humana), cytogenomics (Citogenômica), and inborn errors of metabolism investigation (Erros Inatos do Metabolismo/Bioquímica Genética). Notable specialized tests include Neuro MetaTest™ for late-onset metabolic diseases, UTI Test Combinado for critically ill infants, and comprehensive panels for hereditary cancer, cardiovascular diseases, and thrombophilia. The DLE Collect™ product line provides innovative filter paper and dried swab collection kits for sample transport without refrigeration. Testing methodologies primarily rely on tandem mass spectrometry (MS/MS), gas chromatography-mass spectrometry (GC/MS), and next-generation sequencing (NGS).

Differentiator

Problem solved

Functional benefit

Brands

• DLE Collect™: A simple, safe, and efficient system for collection and transport of biological samples without the need for refrigeration. Available in Filter Paper and Dried Swab formats.
• Neuro MetaTest™
• UTI Test Combinado

Products and services

• Teste do Pezinho (Triagem Neonatal) Newborn screening test performed from dried blood spots, detecting metabolic and genetic diseases in the first days of life for early intervention.
• Triagem Pré-natal Não Invasiva (NIPT/Prenateste®) Non-invasive prenatal screening for fetal chromosomal abnormalities including Down syndrome, Edwards syndrome, and other aneuploidies.
• Teste de Risco Fetal DLE Prenatal risk screening that combines biochemical markers (AFP, hCG, estriol, PAPP-A) with biophysical markers (nuchal translucency) to assess risk of fetal chromosomal abnormalities.
• Neuro MetaTest™ Test combining biochemical analyses and molecular genetics to investigate late-onset, potentially treatable hereditary metabolic diseases.
• UTI Test Combinado Combined test panel for investigation of critically ill infants without prior diagnosis in Neonatal or Pediatric ICU, using dried blood spots collected through DLE Collect™ and frozen urine samples.
• DLE Collect™ Filter Paper Sample collection kit using filter paper technology for safe collection and room-temperature transport of biological samples, eliminating the need for cold chain logistics.
• DLE Collect™ Dried Swab Oral mucosa swab collection kit that allows easy, room-temperature-stable collection and transport of biological samples for molecular genetic testing.
• Biologia Molecular / Genética Humana Molecular genetics testing service area covering hereditary diseases, oncogenetics, pharmacogenetics, and infectious disease detection.
• Citogenômica Cytogenomics service area using karyotyping and chromosomal microarray (CMA) for detection of chromosomal alterations in constitutional and onco-hematological conditions.
• Erros Inatos do Metabolismo / Bioquímica Genética Inborn errors of metabolism investigation including metabolic profiling, amino acid analysis, acylcarnitine profiling, and urinary organic acid analysis using MS/MS and GC/MS.
• Perfil Metabólico para EIM Comprehensive metabolic profile panel for inborn errors of metabolism investigation, combining acylcarnitine profile, amino acid profile, and urinary organic acid analysis.
• Sequenciamento Completo do Exoma Complete exome sequencing service for comprehensive genetic investigation of hereditary diseases, combined with complete mitochondrial DNA sequencing in a single test for enhanced case resolution.
• Painel Molecular para Câncer Hereditário Next-generation sequencing panel for comprehensive investigation of hereditary cancer syndromes, including APC, ATM, BRCA1, BRCA2, and other cancer predisposition genes.
• Câncer de Mama e Ovário – Genética Genetic testing for hereditary breast and ovarian cancer including BRCA1 and BRCA2 mutation analysis.
• Teste de Surdez Genética Genetic hearing loss test using PCR technology licensed from UNICAMP for detection of GJB2 (Connexin 26) mutations, including the 35delG mutation and complete GJB2 gene sequencing.
• Intolerância à Lactose por Teste Genético Genetic test for lactose intolerance including LCT gene mutation analysis and MCM6 gene polymorphism analysis for primary hypolactasia.
• Perfil Genético para Trombose Genetic profile for thrombosis risk including MTHFR (C677T, A1298C), FII (G20210A), and FV Leiden (G1691A) mutation analysis.
• Perfil Genético para Doenças Cardiovasculares Genetic profile for cardiovascular disease risk including MTHFR, FII, FV Leiden, ACE (I/D polymorphism), and APOE genotyping.
• MLPA (Amplificação Multiplex de Sondas Dependente de Ligação) Multiplex Ligation-dependent Probe Amplification (MLPA) test for detection of deletions and duplications in specific genes and chromosomal regions.
• Painel Genético para Ancestralidade Judaica Ashkenazi Genetic screening panel covering 54 pathogenic variants in 16 genes associated with autosomal recessive diseases with high frequency in the Ashkenazi Jewish population.
• Triagem Neonatal para AME (Atrofia Muscular Espinhal 5q) Newborn screening for Spinal Muscular Atrophy 5q (AME/SMA), a progressive neuromuscular disease of genetic origin.
• Perfil Bioquímico para Doenças Lisossômicas Biochemical profile for lysosomal storage diseases including Gaucher, Pompe, Fabry diseases and Mucopolysaccharidosis Type 1, integrated into the Teste do Pezinho.
• Triagem para Imunodeficiências Congênitas (SCID, Agamaglobulinemia e outras Linfopenias de Células T e B) Newborn screening for primary immunodeficiencies including SCID, agammaglobulinemia, and other T and B cell lymphopenias - pediatric emergencies that require early diagnosis and treatment.
• Análise de Ácidos Orgânicos Urinários Urinary organic acid analysis using gas chromatography-mass spectrometry (GC/MS) for investigation of organic acid disorders, validated per ACMG recommendations with ERNDIM proficiency testing.
• Perfil de Acilcarnitinas Acylcarnitine profile analysis using tandem mass spectrometry (MS/MS) for detection of fatty acid oxidation disorders (MCAD, VLCAD, SCAD, MAD, LCHAD, CPTII) and organic acidemias.
• Perfil de Aminoácidos Amino acid profile analysis using tandem mass spectrometry (MS/MS) for detection of aminoacidopathies (OTC deficiency, citrullinemia, PKU, MSUD, homocystinuria) and tyrosinemias.

Quantifiable outcome

• Spectrometry-based amino acid analysis reduces false positive rates by 50% compared to fluorimetric methods for PKU screening.
• +1 more outcomes

Segments3 records

Ideal customer profiles3 records

Technology focussed No

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Feature10 records

Partnerships

One partnership is on record.

• Grupo PardinicoreStrategic or Co-development PartnerDLE is a brand of Grupo Pardini, part of the larger Grupo Fleury diagnostic network. DLE has joined other Grupo Pardini segments under the Medicina Personalizada (Personalized Medicine) initiative to share genetics, rare disease, and genomics information via joint social media channels on Instagram and LinkedIn.

Scale indicators2 records

Recent moves6 records

Expansion highlights5 records

Regional players

• Sistemas Genómicos: Spain/Latam-region clinical genetics lab offering cytogenomics, prenatal screening, and rare disease panels with Spanish-language and Iberian-American market presence. Comparable to DLE on menu structure but does not directly compete in Brazil.

Broad incumbents

• Dasa: Major Brazilian diagnostic chain (Dasa, Delboni, Sergio Franco) offering genetic, molecular, and metabolic testing with national scale. Competes with DLE on hospital and physician accounts across the same geography and service categories.
• Fleury Medicina e Saúde: Brazil's largest private diagnostics platform and DLE's parent group (Grupo Fleury / Grupo Pardini). Overlaps on routine diagnostics with NIPT, biochemistry, and molecular offerings as part of a broader portfolio beyond DLE's rare disease focus.

Direct peers

• Centogene: Global rare disease genetics reference laboratory offering exome/genome sequencing, biochemical testing, and biomarker interpretation. Highly comparable to DLE as a specialty rare-disease lab serving physicians across multiple geographies with comprehensive diagnostic menus.
• Myriad Genetics: Specialized in hereditary cancer genetic testing (BRCA1/2, multi-gene panels) and prenatal screening. Closely comparable to DLE's breast/ovarian cancer panels and Prenateste® NIPT offerings.
• Invitae: Broad genetic testing platform offering hereditary cancer, rare disease, reproductive health, and proactive screening panels. Comparable service breadth and B2B physician channel overlap with DLE.
• ARCHIMEDlife: Austria-based specialty lab focused on inborn errors of metabolism using MS/MS, GC/MS, and enzyme assays with global reach. Directly comparable to DLE's Erros Inatos do Metabolismo service area covering acylcarnitine, amino acid, and urinary organic acid profiles.
• GeneDx (Sema4): Clinical genomics lab specializing in rare disease exome/genome sequencing and hereditary cancer panels. Competes with DLE's molecular genetics service area (exome sequencing, hereditary cancer panel, BRCA1/2 testing).
• PerkinElmer Genomics: Provides MS/MS-based newborn screening (tandem mass spec) and rare disease molecular diagnostics globally via dried blood spot workflows. Closely overlaps DLE's MS/MS metabolic profiling, dried-paper sample logistics, and ACMG-aligned newborn screening panels.
• PreventionGenetics (Exact Sciences): Clinical molecular genetics laboratory offering sequencing, deletion/duplication, and rare disorder testing with a large menu comparable to DLE's molecular biology catalog.

Market position

Strengths5 records

Weaknesses5 records

Competitive moat5 records

Key risks6 records

Key highlights7 records

Customer concentration

• LinkedInlinkedin.com/company/laboratoriodle

Compliance2 records

Revenue estimate

Valuation estimate

Number of profiles

Funding overview

Funding rounds

Investors

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 DLE - Genética Humana, Doenças Raras e Genômica