FulGenome | Fulgent Genetics

UPDATED PRODUCT

Rapid FulGenome: Speed Meets Precision

Rapid FulGenome is an advanced whole genome sequencing (WGS) solution designed to provide time-sensitive, comprehensive genomic insights for critically ill patients.

Clinical Use/Indications

Early diagnosis of genetic disorders in newborns and children can be critical for timely medical interventions. FulGenome's comprehensive analysis can aid in these diagnoses, enabling informed medical management.

Features

2 days - Preliminary Report

7 days - Final report
Phenotype-driven, multi-variant analysis
Singleton, Duo, or Trio analysis

With a preliminary report delivered in just 2 days, Rapid FulGenome offers unparalleled speed and accuracy, empowering clinicians to make informed decisions for urgent medical or surgical interventions.

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Time-Sensitive Reports

To support urgent decision-making in the NICU and PICU, Rapid FulGenome provides rapid whole genome sequencing with a preliminary and final report.

EARLY INSIGHT

Preliminary Report in 2 Days

A focused, early analysis highlighting pathogenic or likely pathogenic variants in genes with strong clinical relevance to the patient’s presentation.

This rapid insight is designed to guide immediate medical management decisions while a more comprehensive review is underway.

Rapid FulGenome Preliminary Report for RISE.

CONFIRMED RESULTS

Final Report within 7 days^†

A complete, detailed genomic analysis that incorporates additional testing and confirmatory studies.

The final report

Includes pathogenic/likely pathogenic variants and clinically relevant variants of uncertain significance
Provides gene-level details with expert clinical interpretation
Delivers results that are both actionable and comprehensive within the first week of testing

^†RISE will be provided in an additional amended final report within 3-4 weeks.

SUPPLEMENTAL TESTING

Expanded Insights with RNA-Integrated Sequence Evaluation (RISE)

Learn More About RISE

A lab technician handling a multichannel pipette.

Facts about Rapid FulGenome

Broad Testing Boosts Diagnoses

Testing infants whose condition isn't explained by trauma, infection, or prematurity results in more diagnoses.

First-Line Testing Improves Outcomes

Implementing rapid genome sequencing as a first-line test in NICU workflows is proven to:

Change medical management for up to 87% of babies.¹
Reduce healthcare costs up to $15,786 per child.²

Clinical WGS Adoption Remains Low

Clinical rapid whole genome sequencing is performed in <5% of eligible patients.³

¹PMID 39999847 - Analysis limited to DNA analysis of SNVs and CNVs.

²PMID 34089648

³PMID 38413639

Enhanced Variant Detection

Single nucleotide variants (SNVs)
Copy number variants (CNVs)
Genome-wide del/dups
Mitochondrial genome alterations

Regions of homozygosity (ROH)
Repeat expansions (20 genes covered) including:
ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS/ATXN8, BEAN1, C9orf72, CACNA1A, CNBP, DMPK, FGF14, FMR1, FXN, HTT, NOP56, PNRP, PPP2R2B, TBP

Test Overview

TEST DETAILS

Whole genome sequencing (WGS) using next-generation sequencing (NGS) technology to deliver enhanced variant detection, including single nucleotide variants (SNVs), copy number variants (CNVs), genome-wide del/dups, mitochondrial genome alterations, and repeat expansions.

Singleton or Duo/Trio Analysis (strongly recommended)
Mean Coverage: 30x-40x
Turnaround Time:
2 days - Preliminary Report
7 days - Final Report

SPECIMEN REQUIREMENTS

Proband Sample

1 x EDTA (purple top) tube

Minimum 1 mL whole blood for Rapid FulGenome

OR

Minimum 4 mL whole blood for Rapid FulGenome + RISE*

For patients less than 1 year of age, we can accept 1-2 mL for DNA analysis only. 4 mL for DNA and RNA Analysis.

*Sample receipt within 48 hours of sample collection

Duo/Trio Sample

1 x EDTA (purple top) tube or Saliva Swab

Minimum 1 mL whole blood (strongly preferred)

Saliva/buccal swabs will be accepted for family member testing (Duo/Trio); however, they are not recommended and will result in testing delays ( ~1 day).