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. Â For testing of a wider range of genes, in particular for patients with suspected SAIDs, we recommend our NGS gene panel. Â The NGS libraries are sequenced on the Illumina MiSeq platform. Â 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)