Exome Sequencing

Exome Sequencing are patient-centric, phenotype-driven analyses designed to examine coding regions and splice junctions for thousands of genes, and report only the variants which are of plausible clinical relevance for your patient. Family history and clinical information is required for all Exome orders. Clinical notes are reviewed by our curation team and used to generate the most comprehensive and personalized analysis for your patient. Trio analysis is also available and focuses on the proband of a familial trio (proband and parents).


Clinical Exome

This option tests over 4,000 genes known to be associated with inherited conditions. This test is ideal for patients with a clinical presentation indicative of a genetic syndrome not specific enough to point to a single condition.


Panel Coverage: 96% at 20x Guaranteed
Deletion / Duplication: ≥ 2 exons
Sequencing Methods: NGS
Orthogonal Methods: Sanger, qPCR, MLPA, rpPCR
Turnaround Time: 5-7 weeks



Whole Exome

This option tests over 18,000 genes throughout the human genome. This test is ideal for patients for whom previous focused testing has been negative or those who have a complex or very rare combination of phenotypes which are not suggestive of any recognizable syndrome.


Panel Coverage: 96% at 20x Guaranteed
Deletion / Duplication: ≥ 2 exons
Sequencing Methods: NGS
Orthogonal Methods: Sanger, qPCR, MLPA, rpPCR
Turnaround Time: 5-7 weeks


Chromosomal Sequencing Analysis

Chromosomal Sequencing Analysis (CSA) uses Next Generation Sequencing data to identify clinically significant copy number variants (CNV, deletions and duplications). This breakthrough allows for chromosomal microarray analysis (CMA) equivalent results using NGS.


CSA Comprehensive

This is a reflex option where the initial testing is a genome-wide search for multi-gene deletions and duplications. If this phase is non-diagnostic, whole exome sequencing with deletion/ duplication analysis (2-exon resolution) is performed.

  • Detects all clinically significant CNVs in ClinGen
  • UPD detection by AOH analysis for imprinted regions (5Mb resolution)
  • Whole Exome sequencing is included
  • Fragile X repeat expansion upon request


Sequencing Methods: Target Capture NGS
Orthogonal Methods: Sanger, qPCR, MLPA, rpPCR
Turnaround Time: 5-7 weeks


CNVgenome™

Fulgent has developed a NGS-based approach for copy number variation analysis to exceed the breadth of detection, resolution, sensitivity, and speed of traditional chromosomal microarrays (aCGH).

  • 100k bp resolution and 10-20k bp at boundaries
  • UPD detection (upon request)
  • First-tier test in detection of CNVs in individuals with autism, intellectual disability, and/or congenital anomalies.


Sequencing Methods: Low-pass Whole Genome Sequencing
Orthogonal Methods: Sanger, qPCR, MLPA, rpPCR
Turnaround Time: 2-3 weeks


Mitochondrial Genome

The Mitochondrial Genome test is designed to examine all 37 mtDNA genes and utilizes overlapping primer sets to cover all 16,569 nucleotides. This analysis is performed by PCR amplification of mitochondrial DNA, followed by Next Generation Sequencing. This assay has been validated for the detection of mitochondrial DNA heteroplasmy at a minimum level of 2-5%.


Panel Coverage: 100% at 1000x Guaranteed
Deletion / Duplication: Available (call for more details)
Sequencing Methods: NGS
Orthogonal Methods: Sanger, qPCR, MLPA
Turnaround Time: 3-5 weeks


Whole Genome Sequencing

Whole Genome sequencing is designed to examine noncoding and coding regions of clinical relevant genes and regions. Family history and clinical information is required for all Whole Genome orders. Your patient’s clinical notes are reviewed by our curation team and used to generate the most comprehensive gene list and personalized analysis for your patient. Trio analysis is also available, and focuses on the proband of a familial trio (proband and parents). This test provides ~30x genome-wide backbone coverage and includes CNVgenome analysis for copy number variants (see above).


Panel Coverage: 96% at 20x Guaranteed
Deletion / Duplication: By CNVgenome analysis
Sequencing Methods: NGS
Turnaround Time: 5-7 weeks