WHO IS NIPD Genetics WES ANALYSIS FOR?
WES analysis is recommended for patients:
- Who have a heterogeneous disease manifesting with broad, atypical and complex symptoms
- Who remain unresponsive to treatment for presumed diagnosis
- Who have exhausted other available testing options without achieving a diagnosis
- Who may have a rare condition
- Who have a suspected genetic disorder for which analysis with other testing methods may not exist or be as accurate
WHAT DOES NIPD Genetics WES ANALYSIS TEST FOR?
NIPD Genetics WES analyses only the protein-coding regions (exons) of the genome and provides increased depth of coverage. The test also examines up to 10 bases of adjacent intronic regions, and provides deep, uniform coverage even across GC-rich regions.
NIPD Genetics applies a robust bioinformatics pipeline and variant calling software for advanced results analysis and interpretation.
>95% on-target rate
100x median read depth
> 97% over 20x
WHY CHOOSE NIPD Genetics WES ANALYSIS?
Reveals mutations in disease-associated genes that may be responsible for rare disorders with broad and atypical phenotypes
Provides genetic insight on symptoms, potential complications and disease progression
Presents a patient-focused approach that can shorten the diagnostic process, leading to beneficial therapy faster
Supports clinicians in providing an accurate diagnosis, and improving clinical management of patients
Assesses coding regions of almost 20,000 genes, increasing the chances of identifying causative mutations and reaching a diagnosis faster
NIPD Genetics whole exome sequencing (WES) analysis is an accurate and cost-effective one-step solution for patients presenting with complex and ambiguous symptoms. WES analysis can help shorten an extensive and lengthy diagnostic process, and is particularly useful when targeted approaches, such as single gene or gene panel testing could not identify a disease-causing variant.
Single Nucleotide Variants (SNVs), small Indels, and Copy Number Variants (CNVs)
Innovative bioinformatics analysis