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Comprehensive genomic and molecular profiling for every patient
Precision Medicine, Purpose-Built for LATAM
Precision Medicine, Purpose-Built for LATAM
Our genomic and molecular testing portfolio is designed to help physicians identify specific biological changes , select targeted therapies, and optimize treatment for patients across oncology, rare diseases, cardiology, and neurology. All assays are processed in Biomakers’ ISO-certified laboratories, ensuring accuracy, consistency, and rapid turnaround
Explore our Test Catalog
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Oncology
Cardiology, Neurology, and Rare Diseases
Oncology
BRCA 1 & 2 (Germline / Somatic)
Test Description
BRCA Research Assay is a targeted next-generation sequencing (NGS) panel designed to detect a broad range of variants across BRCA1 and BRCA2, including SNPs, indels, and large indels within the coding regions and select intronic boundaries.
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Optimus
Test Description
OPTIMUS assay is a targeted 55-gene DNA + RNA NGS panel designed to detect key genomic alterations across clinically relevant solid tumor genes.
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BMK HRR Panel
Test Description
BMK HRR is a targeted NGS assay designed to detect pathogenic variants across genes in the homologous recombination repair (HRR) pathway.
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BMK HRD Plus
Test Description
BMK HRD Plus includes 46 HRR genes such as BRCA1 and BRCA2. It also measures genomic instability with both gene-level and sample-level LOH with high accuracy, using the Genomic Instability Metric (GIM) to assess HRD status.
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Optimus 500
Test Description
OPTIMUS 500™, is a comprehensive genomic profiling assay targeting 523 genes across DNA and RNA.
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Optimus Liquid
Test Description
OPTIMUS Liquid™, detects clinically relevant genomic alterations via liquid biopsy (plasma ctDNA). The 33-gene panel supports therapy selection, resistance monitoring, and precision oncology when tissue is unavailable.
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BMK 500
Test Description
BMK 500 is a targeted next-generation sequencing (NGS) assay that provides a comprehensive genomic profiling solution for FFPE solid tumor tissues.
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Cardiology, Neurology, and Rare Diseases
Biomakers offers advanced genetic testing for a wide range of rare inherited conditions using MLPA, PCR-based methods, Sanger sequencing, and next-generation sequencing (NGS).
We support evaluation of neuromuscular, metabolic, cardiac, vascular, and hereditary neuropathic disorders, with customizable gene panels tailored to each patient’s clinical presentation.
Neuromuscular disorders
Spinal Muscular Atrophy (SMA), Duchenne Muscular Dystrophy (DMD), Friedreich’s Ataxia
Metabolic / systemic disorders
hATTR amyloidosis, porphyrias, familial hypercholesterolemia, primary hyperoxaluria
Cardiovascular & neuropathic disease
Hereditary neuropathies, cardiomyopathies
Cardiac genetic disorders
Hypertrophic cardiomyopathy, Long QT syndrome, inherited cardiomyopathies
Vascular & lymphatic malformations
Congenital vascular malformations, lymphatic malformations
Filter
All
Oncology
Cardiology, Neurology, and Rare Diseases
Oncology
BRCA 1 & 2 (Germline / Somatic)
Test Description
BRCA Research Assay is a targeted next-generation sequencing (NGS) panel designed to detect a broad range of variants across BRCA1 and BRCA2, including SNPs, indels, and large indels within the coding regions and select intronic boundaries.
Read More
Optimus
Test Description
OPTIMUS assay is a targeted 55-gene DNA + RNA NGS panel designed to detect key genomic alterations across clinically relevant solid tumor genes.
Read More
BMK HRR Panel
Test Description
BMK HRR is a targeted NGS assay designed to detect pathogenic variants across genes in the homologous recombination repair (HRR) pathway.
Read More
BMK HRD Plus
Test Description
BMK HRD Plus includes 46 HRR genes such as BRCA1 and BRCA2. It also measures genomic instability with both gene-level and sample-level LOH with high accuracy, using the Genomic Instability Metric (GIM) to assess HRD status.
Read More
Optimus 500
Test Description
OPTIMUS 500™, is a comprehensive genomic profiling assay targeting 523 genes across DNA and RNA.
Read More
Optimus Liquid
Test Description
OPTIMUS Liquid™, detects clinically relevant genomic alterations via liquid biopsy (plasma ctDNA). The 33-gene panel supports therapy selection, resistance monitoring, and precision oncology when tissue is unavailable.
Read More
BMK 500
Test Description
BMK 500 is a targeted next-generation sequencing (NGS) assay that provides a comprehensive genomic profiling solution for FFPE solid tumor tissues.
Read More
Cardiology, Neurology, and Rare Diseases
Biomakers offers advanced genetic testing for a wide range of rare inherited conditions using MLPA, PCR-based methods, Sanger sequencing, and next-generation sequencing (NGS).
We support evaluation of neuromuscular, metabolic, cardiac, vascular, and hereditary neuropathic disorders, with customizable gene panels tailored to each patient’s clinical presentation.
Neuromuscular disorders
Spinal Muscular Atrophy (SMA), Duchenne Muscular Dystrophy (DMD), Friedreich’s Ataxia
Metabolic / systemic disorders
hATTR amyloidosis, porphyrias, familial hypercholesterolemia, primary
hyperoxaluria
Cardiovascular & neuropathic disease
Hereditary neuropathies,
cardiomyopathies
Cardiac genetic disorders
Hypertrophic cardiomyopathy, Long QT syndrome, inherited cardiomyopathies
Vascular & lymphatic malformations
Congenital vascular malformations, lymphatic malformations
Filter
All
Oncology
Cardiology, Neurology, and Rare Diseases
Oncology
BRCA 1 & 2 (Germline / Somatic)
Test Description
BRCA Research Assay is a targeted next-generation sequencing (NGS) panel designed to detect a broad range of variants across BRCA1 and BRCA2, including SNPs, indels, and large indels within the coding regions and select intronic boundaries.
Read More
Optimus
Test Description
OPTIMUS assay is a targeted 55-gene DNA + RNA NGS panel designed to detect key genomic alterations across clinically relevant solid tumor genes.
Read More
BMK HRR Panel
Test Description
BMK HRR is a targeted NGS assay designed to detect pathogenic variants across genes in the homologous recombination repair (HRR) pathway.
Read More
BMK HRD Plus
Test Description
BMK HRD Plus includes 46 HRR genes such as BRCA1 and BRCA2. It also measures genomic instability with both gene-level and sample-level LOH with high accuracy, using the Genomic Instability Metric (GIM) to assess HRD status.
Read More
Optimus 500
Test Description
OPTIMUS 500™, is a comprehensive genomic profiling assay targeting 523 genes across DNA and RNA.
Read More
Optimus Liquid
Test Description
OPTIMUS Liquid™, detects clinically relevant genomic alterations via liquid biopsy (plasma ctDNA). The 33-gene panel supports therapy selection, resistance monitoring, and precision oncology when tissue is unavailable.
Read More
BMK 500
Test Description
BMK 500 is a targeted next-generation sequencing (NGS) assay that provides a comprehensive genomic profiling solution for FFPE solid tumor tissues.
Read More
Cardiology, Neurology, and Rare Diseases
Biomakers offers advanced genetic testing for a wide range of rare inherited conditions using MLPA, PCR-based methods, Sanger sequencing, and next-generation sequencing (NGS).
We support evaluation of neuromuscular, metabolic, cardiac, vascular, and hereditary neuropathic disorders, with customizable gene panels tailored to each patient’s clinical presentation.
Neuromuscular disorders
Spinal Muscular Atrophy (SMA), Duchenne Muscular Dystrophy (DMD), Friedreich’s Ataxia
Metabolic / systemic disorders
hATTR amyloidosis, porphyrias, familial hypercholesterolemia,
primary hyperoxaluria
Cardiovascular & neuropathic disease
Hereditary neuropathies, cardiomyopathies
Cardiac genetic disorders
Hypertrophic cardiomyopathy, Long QT syndrome, inherited cardiomyopathies
Vascular & lymphatic malformations
Congenital vascular malformations, lymphatic malformations
Quality & Certifications
ISO 9001:2015–certified laboratories with external validation from:
ISO 9001:2015–certified laboratories with external validation from:
Ensuring
Reliable
Reliable
Meaningful
Actionable
results.