Whole exome sequencing (WES)
Sequences the protein-coding regions of the genome — where approximately 85% of known disease-causing variants are found. Available as proband-only or trio (patient + both parents) for enhanced diagnostic yield.
Clinical Area · Rare Disease
Ending the diagnostic odyssey with genomic precision
Many patients with rare or undiagnosed disease go years without a molecular explanation. Whole exome and genome sequencing, combined with expert variant interpretation, offer the most comprehensive available diagnostic pathway — often after other approaches have been exhausted.
Whole genome sequencing (WGS)
Covers the entire genome including non-coding regions and structural variants. Used when WES has been uninformative or when a non-coding or structural cause is suspected.
Targeted rare disease testing
For specific clinical suspicions: SMA (SMN1/SMN2 MLPA), Fragile X (FMR1 repeat expansion), Sanger-based familial variant confirmation, and other focused assays.
Clinical indications
When to consider rare disease genomic testing
Suspected monogenic disease without a clinical diagnosis despite prior evaluation
Multiple congenital anomalies or a complex phenotype not explained by standard workup
Pediatric neurological deterioration or regression of unknown etiology
Intellectual disability or developmental delay — especially with dysmorphic features
Family history of a suspected hereditary condition — proband-first evaluation
Prior inconclusive testing (targeted panels, karyotype, array) — exome or genome as next step
Available tests
Rare disease tests through AC
3billion
DGS — Proband
Diagnostic genome sequencing for a proband with suspected rare or undiagnosed genetic disease.
Method: NGS
Specimen: EDTA whole blood
TAT: ~65 days
3billion
DGS — Trio
Trio-based diagnostic genome sequencing for rare disease evaluation.
Method: NGS
Specimen: EDTA whole blood
TAT: ~65 days
AC Network
Family Test (Sanger)
Targeted familial variant testing using Sanger sequencing.
Method: Sanger
Specimen: EDTA whole blood / amniotic fluid
AC Network
Fragile-X Screening
FMR1 repeat-expansion screening for Fragile X syndrome indications.
Method: Fragment analysis
Specimen: EDTA whole blood
TAT: ~12 days
AC Network
SMA — SMN1/SMN2 del/dup (MLPA)
SMN1/SMN2 dosage analysis for spinal muscular atrophy.
Method: MLPA
Specimen: EDTA whole blood
TAT: 21–30 days
3billion
WES — Proband (3 Billion)
Whole exome sequencing for a proband with suspected rare genetic disease.
Method: NGS
Specimen: EDTA whole blood
TAT: ~30 days
GC Genome
WES — Proband (GC Genome)
Whole exome sequencing through GC Genome for proband-only evaluation.
Method: NGS
Specimen: EDTA whole blood
TAT: ~30 days
GC Genome
WES — Trio (GC Genome)
Trio whole exome sequencing through GC Genome.
Method: NGS
Specimen: EDTA whole blood
TAT: ~30 days
3billion
Whole Genome Sequencing (3 Billion)
Whole genome sequencing for broad rare disease assessment.
Method: NGS
Specimen: EDTA whole blood
TAT: ~30 days
Rare disease
Start with the clinical picture
Share the phenotype, prior testing history, and available specimen. AC can help identify the most appropriate sequencing strategy and navigate the logistics.
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