- Aortic Dysfunction/Dilation & Related Disorders NGS Panel
- Cholestasis NGS Panel
- Comprehensive Cardiac NGS Panel
- Comprehensive Pulmonary NGS Panel
- Connective Tissue Disorders NGS Panel
- Craniosynostosis NGS Panel
- Dilated & Arrhythmogenic Cardiomyopathy NGS Panel
- Epilepsy/Seizure NGS Panel
- Hearing Loss NGS Panel
- Hermansky-Pudlak Syndrome & Pulmonary Fibrosis NGS Panel
- Maturity-Onset Diabetes of the Young (MODY) NGS Panel
- Non-Immune Hydrops NGS Panel
- Ocular Albinism & Hermansky-Pudlak Syndrome NGS Panel
- Overgrowth/Macrocephaly NGS Panel
- RASopathy NGS Panel
- Rhabdomyolysis & Metabolic Myopathies NGS Panel
- Skeletal Dysplasia NGS Panel
- Vascular Malformation NGS Panel
QUICK Analysis
QUICK Analysis
The QUICK Analysis is GGC’s free NGS-reflex analysis that rapidly screens full exome and genomic data for pathogenic alterations when panel results are negative. This analysis is available for patients who have received normal NGS-based test results from GGC’s Diagnostic Laboratory.
Technical Information
Variants reviewed during the QUICK Analysis must be rare in the general population and meet our 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.
Specimen Requirements
No additional specimen needed. QUICK Analysis will be done using existing NGS data from previous testing.
Associated Tests
Connect With Our Experts
Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC