Exome Family Member


Sunquest Code:EXOFAMCoPath Code:EXOMEFAM
Epic Code:LAB7036Epic Name:Hereditary Exome Family Member
Synonyms:Whole Exome; Comparison Sample; Hereditary; Genetic Testing; Exome Sequencing, NGS, Multiple Congenital Anomalies
Methodology:Next generation sequencing
CPT Code:----------CPTCODES HERE----------
Turnaround Time:Performed Mon-Fri; turnaround time for exome sequencing could be up to 6 months.
Special Instructions:A signed informed consent in the patient's medical record is required; the consent should not be sent ot the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors. Bone Marrow Transplant patients: If a patient is the recipient of an allogeneic transplant, this test must be done on a pre-transplant sample. Contact the Molecular Diagnostics lab to see if a pre-transplant sample is available.
Associated Links:

NGS Whole Genome/Exome Testing Consent Form



Collection Instructions

Specimen:Blood
Optimal Volume:10 mL
Minimum\Peds Volume:3 mL
Container:Yellow (ACD, Solution A) tube available from laboratory (Purple (EDTA))
Causes for Rejection:Frozen or clotted specimen, incorrect anticoagulant; specimen more than 5 days old. Sample collected from bone marrow transplant recipient. Samples tested in hematology using automated instrumentation not accepted. DNA extracted at non-CLIA certified (or equivalent) lab.


Processing and Shipping

Specimen Processing:Whole blood. Do not process. Store at room temperature.
Shipping Instructions:Ship at room temperature. Do not freeze.
Test Performed at or Referral Lab Molecular Diagnostics  (UMMC-East Bank)


Interpretive

Reference Range:See interpretive report.
Use:This assay is useful for clinical genetic diagnosis of Mendelian inherited disorders utilizing a next generation sequencing (NGS) platform. This platform allows simultaneous sequencing of a large number of genes using a single assay. Genomic DNA is extracted from the sample, and the sequencing libraries are prepared according to standard Illumina protocols using the TruSight One Sequencing Panel for enrichment of targeted genes. The enriched DNA libraries are sequenced on an Ilumina HiSeq 2500 instrument. Raw sequencing reads are mapped to the reference genome using BWA. Raw alignment files are realigned in the neighborhood of indels, and recalibrated for base quality accuracy using the Genome Analysis Tool Kit (GATK) Point mutation and indel calls in exons and adjoining intronic regions are made using the GATK Unified Genotyper. Variants are interpreted according to guidance issued by the American College of Medical Genetics.


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