Autoinflammatory Disorders Gene Testing

Testing Laboratory

Department

Immunology

Delphic Registration Code (Alpha Code)

PPID

Test Code (Numeric Code)

7831

Laboratory Handling

Transport

Ambient

Laboratory

LabPlus Molecular Immunology

Sample Stability

5 days at 4°C

Associated Tests

• Diagnostic Genetics Send Away (Blood)

Synonyms

MEFV, TRAPS, FMF, HyperIgD, MVK, NLRP3, CAPS, NOMID, CINCA
Familial Mediterranean Fever, TNF Receptor-associated Periodic Syndrome
Hyperimmunoglobulin-D syndrome, Mevalonate Kinase Deficiency
Cryopyrin-associated Periodic Syndromes, Familial Cold Autoinflammatory Syndrome
Neonatal Onset Multisystem Inflammatory Disease

Turnaround Time

2 weeks

2 weeks for a single gene. For gene panels, refer to the "Diagnostic Genetics Send Away" page.

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4

Minimum Sample Volume (ml)

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4

Minimum Sample Volume (ml)

1

Aliquot Instructions

Sample Type

• Whole Blood

Minimum Volume (ml)

1

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

We accept DNA from an accredited diagnostic laboratory for testing. Please provide at least 20ul of DNA with concentration more than 20ng/ul.

Test Method

Sanger sequencing (single gene testing)

Limitations / Interference

Sanger sequencing: may not detect variant allele frequencies less than 20% or changes in the promoter and non-coding regions of the gene. Multiple exon deletions or insertions and complete deletion of one allele may not be identified.

Resources

• Consent form (115 KB)

Contact Information