List of Genes
The testing our laboratory performs is listed in the National Genomic Test Directory.
List of genes in the Autoinflammatory NGS Panel - Clinical Indication R413
| Gene Name | Gene Symbol | Chromosomal location |
| Adenosine deaminase 2 | ADA2 | 22q11.1 |
| Alpha kinase 1 | ALPK1 | 4q25 |
| Caspase recruitment domain family member 14 | CARD14 | 17q25.3 |
| COPI coat complex subunit alpha | COPA | 1q23.2 |
| E74 like ETS transcription factor 4 | ELF4 | Xp11.3 |
| Inhibitor of nuclear factor kappa B kinase regulatory subunit gamma | IKBKG | Xq28 |
| Interleukin 1 receptor antagonist | IL1RN | 2q14.1 |
| Interleukin 36 receptor antagonist | IL36RN | 2q14.1 |
| Lipin 2 | LPIN2 | 18p11.31 |
| MEFV innate immunity regulator, pyrin | MEFV | 16p13.3 |
| Mevalonate kinase | MVK | 12q24.11 |
| MYD88 innate immune signal transduction adaptor | MYD88 | 3p22.2 |
| NLR family CARD domain containing 4 | NLRC4 | 2p22.3 |
| NLR family pyrin domain containing 3 | NLRP3 | 1q44 |
| Nucleotide binding oligomerization domain containing 2 | NOD2 | 16q12.1 |
| OTU deubiquitinase with linear linkage specificity | OTULIN | 5p15.2 |
| Phospholipase C gamma 2 | PLCG2 | 16q24.1 |
| Proteasome maturation protein | POMP | 13q12.11 |
| Proteasome 20S subunit alpha 3 | PSMA3 | 11p15.4 |
| Proteasome 20S subunit beta 10 | PSMB10 | 16q13 |
| Proteasome 20S subunit beta 4 | PSMB4 | 1q21.3 |
| Proteasome 20S subunit beta 8 | PSMB8 | 6p21.32 |
| Proteasome 20S subunit beta 9 | PSMB9 | 6p21.32 |
| Proteasome assembly chaperone 2 | PSMG2 | 18p11.21 |
| Proline-serine-threonine phosphatase interacting protein 1 | PSTPIP1 | 15q24.3 |
| RANBP2-type and C3HC4-type zinc finger containing 1 | RBCK1 | 20p13 |
| RELA proto-oncogene, NF-kB subunit | RELA | 11q13.1 |
| Receptor interacting serine/threonine kinase 1 | RIPK1 | 6p25.2 |
| Stimulator Of Interferon Response CGAMP Interactor 1 | STING1 | 5q31.2 |
| TANK binding kinase 1 | TBK1 | 12q14.2 |
| TNF alpha induced protein 3 | TNFAIP3 | 6q23.3 |
| TNF receptor superfamily member 1A | TNFRSF1A | 12p13.31 |
| Ubiquitin like modifier activating enzyme 1 | UBA1 | Xp11.3 |
List of Genes in the Hereditary Amyloidosis NGS Panel - Clinical Indication R204
| Gene Name | Gene Symbol | Chromosomal location |
| Apolipoprotein A1 | APOA1 | 11q23.3 |
| Apolipoprotein A2 | APOA2 | 1q23.3 |
| Apolipoprotein A4 | APOA4 | 11q23.3 |
| Apolipoprotein C2 | APOC2 | 19q13.32 |
| Apolipoprotein C3 | APOC3 | 11q23.3 |
| Apolipoprotein E | APOE | 19q13.32 |
| Beta-2-microglobulin | B2M | 15q21.1 |
| Cystatin C | CST3 | 20p11.21 |
| EGF containing fibulin extracellular matrix protein 1 | EFEMP1 | 2p16.1 |
| Fibrinogen alpha chain | FGA | 4q31.3 |
| Gelsolin | GSN | 9q33.2 |
| Galectin 7 | LGALS7 | 19q13.2 |
| Immunoglobulin kappa constant | IGKC | 2p11.2 |
| Leukocyte cell derived chemotaxin 2 | LECT2 | 5q31.1 |
| Lysozyme | LYZ | 12q15 |
| MYD88 innate immune signal transduction adaptor | MYD88 | 3p22.2 |
| Oncostatin M receptor | OSMR | 5p13.1 |
| Transforming growth factor beta induced | TGFBI | 5q31.1 |
| Transthyretin | TTR | 18q12.1 |
For carrier, predictive testing or screening of a single gene we recommend the Sanger sequencing method. For testing of a wider range of genes, in particular for patients with suspected SAIDs, we recommend our NGS gene panel. The NGS libraries are sequenced on the Illumina MiSeq platform. The sensitivity of both panels is sufficient to detect somatic variants (<10% of the minor allele frequency). This has enabled us to identify acquired mutations, in particular in patients with Cryopyrin-associated periodic syndrome (CAPS) and Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)
