Clinical Detection Capabilities

• Aneuploidies

Detection of common chromosomal abnormalities including:

• Trisomy 13 (Patau syndrome)
• Trisomy 18 (Edwards syndrome)
• Trisomy 21 (Down syndrome)
• Sex chromosome aneuploidies
• Rare autosomal trisomies (9, 16)
• Structural Chromosomal Rearrangements
• Identification of deletions and duplications providing karyotype-level insights across all chromosomes

Microdeletions Panel

Detection of 23 clinically significant microdeletions including:

• DiGeorge syndrome (22q11.2 deletion)
• Prader-Willi syndrome
• Angelman syndrome
• Cri-du-chat syndrome
• And 19 additional syndromes
• Copy Number Variants (CNVs)

Our platform detects 109 CNVs with clinical relevance, reported at 23 clinically actionable variants >1Mb resolution

Monogenic Disorders

• 102 inherited monogenic disease analysis
• 50 de novo monogenic disease detection
• Coupled with maternal mini carrier screening or full couple carrier screening (900 genes)

Aviti24 Sequencing Platform
Most Advanced System Available:

Scalability: 288 samples per sequencing run
Output: 10-12 million reads per sample
Performance Benefits: 
Accommodates minute fetal fractions
Significantly reduced redraw rates (~0.5%)
Superior 1Mb limit of resolution
Expanded microdeletion detection

Proprietary Bioinformatics Pipeline: Sequel
Developed by a team of 12 specialized bioinformaticians, our proprietary pipeline represents the latest algorithmic innovations in cfDNA analysis.

Key Advantages:
Dynamic Analysis: Adaptive algorithms, not static thresholds
Open Architecture: Versatile and continuously optimized
Superior Resolution: 1Mb detection limit
Reduced False Positives: Advanced filtering algorithms
Lower Inconclusive Rate: Intelligent quality control