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Test Identifier Information

 
Registration CodeMUTA 02
Method

Patient DNA is analysed using an Ampliseq-for-Illumina next generation sequencing (NGS) custom panel on an Illumina MiSeq instrument, which targets the NOTCH3 gene implicated in CADASIL. 

Diagnostic Use / Indications

Defects in NOTCH3 are the cause of cerebral autosomal dominant arteriopathy with sub cortical infarcts and leukoencephalopathy (CADASIL) [MIM:125310]. CADASIL causes a type of stroke and dementia key features of which include recurrent sub-cortical ischemic events, migraine headaches (30–40% of individuals) and vascular dementia. The disorder affects relatively young adults of both sexes with most affected individuals having an affected parent. Mutations affect highly conserved cysteine residues within epidermal growth factor (EGF)-like repeat domains in the extracellular part of the receptor. The pathologic hallmark of CADASIL is electron-dense granules in the media of arterioles that can often be identified by electron microscopy of skin biopsies.

Constituent TestsGenomic DNA Extraction ;
External Price$680.05(Exclusive of GST)
  

Specimen Collection

 
Patient Specimen4.0mL EDTA,
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Sample Delivery to LabAmbient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number03 3640 548
Test Availability9am to 5pm, Monday to Friday
Turnaround TimeWithin 4 weeks
Reference Interval

NCBI Reference Sequence: NM_000435.2

Interpretation

The finding of a previously described NOTCH3 sequence variant in a symptomatic individual supports a diagnosis of CADASIL. A negative result excludes >95% of CADASIL-causing sequence alterations in NOTCH3, which are missense variants characteristically leading to the loss or gain of a cysteine residue in one of the 34 EGFr domains (GeneReviews).

Additional Information
  1. This genetic analysis needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.
  2. Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms / microliter.

  3. If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

 

Delphic Number Test Number4561

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