QUICK Analysis

The QUICK Analysis is Greenwood’s free NGS-reflex analysis that rapidly screens full exome data for pathogenic alterations when panel results are negative. The QUICK Analysis increases the yield of cost-effective gene panel tests. By screening variants based on molecular criteria first and reviewing the phenotype second, QUICK is good at picking up new or poorly characterized genes. While the QUICK Analysis is not as thorough as a whole exome analysis, we have found it effective in expediting a diagnosis for a growing number of patients.

Turnaround Time

Contact the lab

CPT Code(s)

N/A

Cost

Reflex analysis done at no charge following next generation sequencing test.

The QUICK Analysis is available for patients who have had normal NGS-based testing at the Greenwood Diagnostic Laboratory.

All NGS testing at our lab is run on an exome backbone, so whole exome data is available for every patient who has a panel. We have designed a stringent filtering system to "QUICKly" sort and review variants that are highly likely to explain the patient's phenotype. Only pathogenic or likely pathogenic alterations will be reported. Secondary findings genes are excluded from this analysis unless indicated by the patient's phenotype.

Depending on the patient's clinical features and the initial testing, the lab has identified the causative variant in 10-50% of cases analyzed by QUICK Analysis. Variants reviewed during the QUICK Analysis must be rare in the general population and meet out quality thresholds regarding depth of sequence coverage and allele frequency. Variants must fall into one of the following categories: -Previously reported in the Human Gene Mutation Database (HGMD) -Causes a frame shift, stop gain, start loss or stop loss effect on the encoded protein -Expected to affect a splice site at the +/- 1 or 2 position -Compound heterozygous variant in a gene associated with an autosomal recessive disorder A complete secondary findings analysis is NOT included as part of the QUICK Analysis; however, a variant in one of these genes may be reported if it is a good match for the patient's phenotype.

• Bardet-Biedl Syndrome NGS Panel
• Coffin-Siris Syndrome NGS Panel
• Comprehensive Cardiac NGS Panel
• Comprehensive Pulmonary NGS Panel
• Congenital Contractures NGS Panel
• Connective Tissue Disorders NGS Panel
• Cornelia de Lange Syndrome NGS Panel
• Epilepsy/Seizure NGS Panel
• Focused NGS - Panel
• Hearing Loss NGS Panel
• Hereditary Spastic Paraplegia NGS Panel
• Non-Immune Hydrops NGS Panel
• Lysosomal Storage Disease NGS Panel
• Neuromuscular Disorders NGS Panel
• Overgrowth/Macrocephaly NGS Panel
• RASopathy NGS Panel
• Rett/Angelman Syndrome NGS Panel
• Rhabdomyolysis & Metabolic Myopathies NGS Panel
• Syndromic Autism NGS Panel
• X-Linked Intellectual Disability (XLID) NGS Panel

No additional specimen needed. QUICK Analysis will be done using existing NGS data from previous testing.