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SickKids

Autoinflammatory Disease: Aicardi-Goutieres Syndrome (AGS) panel

Gene name / Alternate gene name
  • ADAR
  • IFIH1
  • RNASEH2A
  • RNASEH2B
  • RNASEH2C
  • SAMHD1
  • TREX1
Lab area
Genome Diagnostics - Molecular Genetics
Method and equipment

Sequencing (all genes) by Next Generation Sequencing. Deletion & duplication analysis is also available for the genes on this panel by exon targeted microarray.

Expected turn-around time
Prenatal samples/Pregnancy/STAT: 2 weeks Routine: 6 weeks
Specimen type

Blood; please contact the Genome Diagnostics Laboratory if you want to send gDNA. If sending a prenatal sample, please contact the laboratory prior to sending sample to discuss sample requirements.

 

For details about specimen requirements, please refer to: Specimen Types & Requirements (PDF).

Specimen requirements

Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);

DNA-minimum 10 ug in 100 uL low TE (pH8.0)

Storage and transportation

Blood- Room Temperature. Please contact the Genome Diagnostics Laboratory if you want to send gDNA.

If sample shipment >48 hours, ship on ice.

Special requirements

Special Instructions for Genome Diagnostics Samples

Please ship us the blood sample within 48 hours of collection.

Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
Canada
M5G 1X8
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab: molecular.lab@sickkids.ca
Email Cytogenetics: cytogenetics.requests@sickkids.ca
Background and clinical significance

Aicardi-Goutieres Syndrome is characterized by encephalopathy, inflammatory features such as sterile pyrexias and chilblain lesions, and may present similarly to a congenital infection with hepatosplenomegaly, elevated liver enzymes, thrombocytopenia, and calcifications of the basal ganglia and white matter. Neurological abnormalities and intellectual disability are common. Findings in cerebrospinal fluid include leukocytosis and increased interferon-alpha activity.

Disease condition
  • Aicardi-Goutieres syndrome 1, dominant and recessive/ Chilblain lupus/ Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations
  • Aicardi-Goutieres syndrome 2
  • Aicardi-Goutieres syndrome 3
  • Aicardi-Goutieres syndrome 4
  • Aicardi-Goutieres syndrome 5
  • Aicardi-Goutieres syndrome 6/ Dyschromatosis symmetrica hereditaria
  • Aicardi-Goutieres syndrome 7/ Singleton-Merten syndrome 1/ Immunodeficiency 95
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