List of Genes
The testing our laboratory performs is listed in the 2021/2022 National Genomic Test Directory.
List of genes in the Autoinflammatory NGS Panel - Clinical Indication R413
| Gene Name | Gene Symbol | Chromosomal Location |
| caspase recruitment domain family member 14 | CARD14 | 17q25.3 |
| adenosine deaminase | ADA2, previous gene symbol CECR1 | 22q11.1 |
| interleukin 1 receptor antagonist | IL1RN | 2q14.1 |
| interleukin 36 receptor antagonist | IL36RN | 2q14.1 |
| lipin 2 | LPIN2 | 18p11.31 |
| MEFV, pyrin innate immunity regulator | MEFV | 16p13.3 |
| mevalonate kinase | MVK | 12q24.11 |
| NLR family CARD domain containing 4 | NLRC4 | 2p22.3 |
| NLR family pyrin domain containing 12 | NLRP12 | 19q13.42 |
| 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 subunit beta 8 | PSMB8 | 6p21.32 |
| proteasome subunit beta 4 | PSMB4 | 1q21.3 |
| proteasome subunit beta 9 | PSMB9 | 6p21.32 |
| proline-serine-threonine phosphatase interacting protein 1 | PSTPIP1 | 15q24.3 |
| RANBP2-type and C3HC4-type zinc finger containing 1 | RBCK1 | 20p13 |
| SH3 domain binding protein 2 | SH3BP2 | 4p16.3 |
| solute carrier family 29 member 3 | SLC29A3 | 12p13.31 |
| TNF alpha induced protein 3 | TNFAIP3 | 6q23.3 |
| TNF receptor superfamily member 1A | TNFRSF1A | 10q22.1 |
| transmembrane protein 173 | TMEM173 | 5q31.2 |
| 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 |
| Amyloid P component, serum | APCS, synonym SAP | 1q23.2 |
| Apolipoprotein E | APOE | 19q13.32 |
| Apolipoprotein A4 | APOA4 | 11q23.3 |
| Apolipoprotein A1 | APOA1 | 11q23.3 |
| Apolipoprotein A2 | APOA2 | 1q23.3 |
| Apolipoprotein C2 | APOC2 | 19q13.32 |
| Apolipoprotein C3 | APOC3 | 11q23.3 |
| Serum amyloid A1 | SAA1 | 11p15.1 |
| Serum amyloid A2 | SAA2 | 11p15.1 |
| Serum amyloid A4 | SAA4 | 11p15.1 |
| C-reactive protein | CRP | 1q23.2 |
| Lysozyme | LYZ | 12q15 |
| Gelsolin | GSN | 9q33.2 |
| fibrinogen alpha chain | FGA | 4q31.3 |
| beta-2-microglobulin | B2M | 15q21.1 |
| transthyretin | TTR | 18q12.1 |
| Cystatin C | CST3 | 20p11.21 |
| leukocyte cell derived chemotaxin 2 | LECT2 | 5q31.1 |
| myeloid differentiation primary response 88 | MYD88 | 3p22.2 |
| transforming growth factor beta induced | TGFBI, synonym BIGH3 | 5q31.1 |
| Oncostatin M Receptor | OSMR | 5p13.1 |
| Galectin 7 | LGALS7 | 19q13.2 |
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)
