CADASIL and CARASIL gene analysis

Diagnostic Use

This test analyses the NOTCH3 and HTRA1 genes for germline variants associated with CADASIL and CARASIL. CADASIL, caused by pathogenic NOTCH3 variants, typically presents with recurrent subcortical strokes, migraine with aura, cognitive decline and psychiatric features, and is inherited in an autosomal dominant manner. CARASIL, caused by biallelic pathogenic HTRA1 variants, is a rare autosomal recessive cerebral small vessel disease characterised by early-onset strokes and cognitive impairment, typically accompanied by alopecia and severe low back pain or spondylosis. Genetic testing can assist in confirming the diagnosis, distinguishing between these conditions, and enabling testing of at-risk family members.

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Constituent Tests

• Genomic DNA Extraction

Synonyms

NOTCH3
HTRA1

Turnaround Time

4 weeks

Test Code

4561

Specimen Type

• Whole Blood
• DNA extract

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4.0

No of Samples Required

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

1.0

Minimum Sample Volume (ml)

0.5

Additional Specimen Information

This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.
If storing blood tube prior to delivery please refrigerate at 4 degrees (transport at ambient temperature).

An aliquot of DNA extracted by another accredited diagnostic laboratory is also an acceptable sample type. DNA extracts should be at least 20uL of DNA at a concentration no less than 20ng/uL. Please contact the laboratory to discuss specific requirements if the available DNA does not meet these standards.

Aliquot Instructions

Sample Type

• Whole Blood

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

This genetic analysis needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.
If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Reference Intervals

NCBI Reference sequence: NM_000435.2

Test Method

The NOTCH3 and HTRA1 genes are tested using an NGS custom panel

Non-Funded Test Cost

$847.23 (Exclusive of GST)

Billing Code

4561

Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms / microliter.

Contact Information

Enquiry Form