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

Requisition

Autoinflammatory Disease: Aicardi-Goutieres Syndrome (AGS) panel - requisition

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.

See related information sheets:

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