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Paediatric Laboratory Medicine

Autoinflammatory Disease: Familial Variant

Background

See related pages for information sheets on Autoinflammatory Disease

Clinical Significance

See related pages for information sheets on Autoinflammatory Disease

Test Name

Autoinflammatory Disease: Familial Variant

Alternate Name/ Synonym

Autoinflammatory Disease Panel: Familial Variant

Test Code

RFS-FAM

Division

Molecular Genetics

Method

Sequencing (all familial variants) by Sanger sequencing

External Proficiency Testing

CAP

Turn Around Time

2 weeks (Prenatal), 3-4 weeks (Pregnant or Urgent), 8-10 weeks (Routine)

Specimen Type

Blood; please contact the Genome Diagnositcs 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).

Minimum Specimen Requirements

5-10 mL EDTA or ACD
0.5 mL EDTA (neonate); minimum 2-3 ug of DNA in 100 uL low TE (pH8.0)

Storage/Transportation

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. 

Interpretation

Provided with report.

For more information, please see information sheet under specific condition.