Background:
This focused microarray study will assess and report only the genetic regions (exons and proximal backbone) outlined and contained within each of our next generation sequencing (NGS) panels. Gene contents of each panel are listed separately for each panel – please see our website for more details or contact our lab. The name and ordering information for each panel is listed below.
NOTE: a panel(s) must be selected for this test to be ordered.
NGS panels with available exon-centric microarray testing (please see individual test information sheet or contact lab for gene content of each panel):
- Cardiomyopathy
- Hypertrophic Cardiomyopathy
- Dilated Cardiomyopathy
- Noonan Syndrome
- Hearing Loss
- Autism
- Inherited Cancer
Reasons for Referral:
- Single pathogenic mutation detected in a gene with recessive inheritance
- No mutation detected using a NGS panel offered through our lab
Methodology:
For this panel testing, the CytoSure Medical Research Exome Array (1 million elements) is used; this array is exon-specific, with 4,645 medically-relevant genes interrogated. The majority of exons are covered by at least 4 oligonucleotide probes per exon, with average backbone spacing at 42Kb. For the current testing strategy, only a fraction of the total genes on the array is assessed, as defined by the ordering provider.
Specimen Requirements:
Blood: EDTA or ACD (Solution A or B):
- Adult: 5 mL
- Child: 5 mL
- Infant: 2-3 mL
A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES. Please include detailed clinical information, including ethnicity, clinical history, and family history.
Test Performed (Days):
Weekly
Turn Around Time:
8 weeks
Shipment Sensitivity Requirements:
- Package and ship specimen to remain cold, but not frozen.
- Ship via overnight express, using the FedEx priority overnight label provided.
- Contact Client Services for shipping kits and instructions at (855) 535-1522.
References:
Additional Info: