Rare Disease Diagnosis
Precision Testing for Rare Diseases: Accurate, Fast, and Actionable
We offer ExomePlus, WGS, and OGM for early, accurate detection of IEMs. Fast, validated results support newborns, children & others with metabolic disorders through personalized insights.
- Advanced Genetic Testing for IEMs ExomePlus, WGS, and OGM provide accurate, early detection for personalized treatment.
- Tailored Testing for Optimal Results From ExomePlus for rapid diagnosis to WGS and OGM for complex cases, ensuring high accuracy and fast turnaround (2-3 weeks).
- Clinically Validated and Trusted Globally Performed in CAP/CLIA-certified labs, following ACMG and ISNS guidelines, for actionable insights in managing metabolic disorders.
Backed by Science, Built for You
Inborn Metabolic Error
Inborn Errors of Metabolism (IEMs) are a group of rare genetic disorders that affect how the body processes food and converts it into energy. These disorders can lead to severe neurological, developmental, and systemic complications if not diagnosed and managed early.
- Over 700 known IEMs exist, affecting approximately 1 in 2,500 newborns worldwide.
- Symptoms can range from mild metabolic abnormalities to life-threatening crises.
- Early genetic diagnosis enables targeted dietary management, enzyme replacement therapy, and personalized interventions.
We offer a tiered approach to genetic testing, ensuring cost-effective solutions while maintaining high diagnostic accuracy.
Other Rare Disease
Rare diseases often have complex, overlapping symptoms, making diagnosis challenging. Many are caused by genetic mutations and require specialized testing for effective treatment. With over 7,000 rare diseases affecting 300 million people, early diagnosis can guide treatment, risk assessment, and family screening.
Our tiered approach offers cost-effective, accurate solutions:
- ExomePlus for initial testing, targeting ~20,000 genes and providing quick results in 21 days.
- WGS and OGM for complex cases, detecting deep mutations and structural variations missed by other tests.
Who Can Benefit from this?
- Patients with unexplained neurological symptoms (seizures, intellectual disabilities, ataxia).
- Individuals with suspected inherited cardiac conditions (e.g., cardiomyopathies, arrhythmias, congenital heart defects).
- Patients with progressive neuromuscular disorders (muscular dystrophies, ALS, hereditary neuropathies).
- Families with a history of sudden cardiac arrest or unexplained stroke.
- Individuals with symptoms suggestive of mitochondrial or connective tissue disorders.
ExomePlus offers accurate diagnosis for most cases, but complex ones may require WGS and OGM for deeper investigation.
- Patients with suspected but undiagnosed genetic neurological disorders, including epilepsy, leukodystrophies, and mitochondrial diseases.
- Individuals with inherited arrhythmias or cardiomyopathies requiring precise risk stratification.
- Cases where previous genetic testing was inconclusive.
- Patients with syndromic features involving multiple organ systems.
- WGS detects deep intronic, non-coding, and regulatory mutations missed by exome sequencing.
- OGM provides high-resolution detection of structural variants, including:
- Large deletions/duplications
- Chromosomal rearrangements
- Triplet repeat expansions (e.g., Fragile X, Friedreich's Ataxia)
- Genomic imprinting disorders
Why Choose us
We can help you:
ExomePlus
- Sensitivity: >98%
- Specificity: >99%
- Average Read Depth: 100 - 150x
- Mitochondrial Genomic Coverage: 100%
- CNV Detection: Single exon deletions/duplications
Whole Genome Sequencing (WGS) Performance
Praxis Genomics utilizes advanced WGS technology to provide comprehensive genomic insights. Key performance indicators include:
- Coverage: Deep sequencing coverage ensures high sensitivity in detecting single nucleotide variants (SNVs), insertions, deletions, and copy number variations (CNVs).
- Accuracy: High accuracy in identifying genetic variants, including those in non-coding regions, which may be missed by other sequencing methods.
- Turnaround Time: Standard turnaround time for WGS results is approximately 4-6 weeks.
Optical Genome Mapping (OGM) Performance
OGM is a high-resolution technology employed by Praxis Genomics to detect structural variations in the genome. Key performance metrics include:
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Sensitivity and Specificity: OGM has demonstrated a high degree of sensitivity and specificity in detecting structural variants, including large insertions, deletions, inversions, and translocations.
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Concordance with Standard Methods: Studies have shown that OGM achieves full concordance with standard-of-care diagnostic tests in approximately 98.6% of cases, with partial concordance in an additional 1.1%.
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Technical Success Rate: OGM exhibits a first-pass success rate of 90.2% and an overall success rate of 98.8%, comparable to traditional cytogenetic testing methods.
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Turnaround Time: OGM results are typically available within 2-3 weeks.
Fast, Secure, & Science-Backed Testing
Why Choose ExomePlus as the First Step?
- Targets ~20,000 genes, including all known IEM-related genes.
- Mitochondrial genome sequencing (100% coverage) for metabolic and neuromuscular conditions.
- Proprietary CNV (Copy Number Variation) detection to identify exon-level deletions/duplications.
- Turnaround time: 21 days (rapid reporting for timely clinical action).
- Cost-effective – making genetic testing more accessible to families and healthcare providers.
Praxis Genomics Testing Advantages
- Turnaround Time: WGS (4-6 weeks), OGM (2-3 weeks).
- Diagnostic yield: Up to 30% higher than WES alone for complex cases.
- Performed in CAP/CLIA-certified laboratories.
What Happens After You Get Your Results?
What Report Do I Get?
Strand
Over 300 million people worldwide have rare diseases, often facing delayed diagnoses. Early genetic testing accelerates detection, guiding precise treatment and informed family planning. With up to 20,000 genes analyzed, our test provides the insights needed for better patient care.
- 100x coverage on >95% of genes linked to ~5,000 Mendelian disorders
- Covers 78 ACMG (American College of Medical Genetics and Genomics)-recommended genes
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98% sensitivity and specificity
- Detects pathogenic and likely pathogenic variants for clinical insights.
Praxis
Nearly 50% of rare disease cases remain undiagnosed despite extensive testing. Our test combines Optical Genome Mapping (OGM) with Whole Genome (WGS) and Transcriptome Sequencing to provide deeper molecular insights, increasing diagnostic success and enabling personalized treatment strategies.
- The only test combining OGM, WGS, and Transcriptome Sequencing.
- 30% higher diagnostic yield than Whole Exome Sequencing (WES) for complex cases.
- Finds genomic rearrangements missed in 70% of cases.
- Detects over 98% of key genetic variants in one test.
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