Services
Custom NGS Panel

Custom NGS Panel

CD-Genomics is a company with rich experience in targeted gene panel sequencing which is used to accurately detect gene variations related to diseases.

CD-Genomics provides tests for mutations in at least 68 diseases and thousands of genes. Our scientists summarize disease-related genes based on the literature related to diseases. According to the genes that the customer is interested in, we use the targeted NGS sequencing method to analyze SNP, CNV and InDels. There are two targeted sequencing methods available: amplicon-based approaches and hybridization capture-based approaches.

Amplicon sequencing: Specific primers are designed for PCR amplification for the target region of interest, multiplex up to 20,000+ amplicons in each reaction. Sequencing adapters are ligated or added by a second PCR amplification and the targeted DNA library is constructed. High-throughput sequencing is then performed.
Hybridization capture-based target enrichment: At present, the main method is hybrid capture sequencing based on liquid phase. Based on the principle of base complementary pairing, nucleic acid probes are designed for specific regions of the genome of interest. The target region hybridization enrichment of DNA/RNA library is carried out based on liquid phase environment, and the specific genetic mutation or somatic mutation in the target region are detected by high-throughput sequencing technology.

Services

- Custom Inherited Disease Panels
  
  These panels detect variations that occur in inherited diseases, including cystic fibrosis, autism spectrum disorders, epilepsy, hearing loss research, multiple epiphyseal dysplasia, maturity-onset diabetes of the young (MODY), cardiovascular diseases, and neuromuscular disorders.
  - Custom Cystic Fibrosis Panel
    
    This panel detects multiple variations that occur in CFTR gene.
  - Custom Autism Spectrum Disorders Panel
    
    This panel contains 95 genes for your selection, including CHD8, ARX, NRP2, EHMT1, PCDH9, NLGN4X and others.
  - Custom Epilepsy Panel
    
    This panel contains 48 genes for your selection, such as SCN1A, SCN2A, SCN3A, SCN8A associated with sodium ion channel and KCNQ1, KCNQ2, KCNQ3, KCNQ4 associated with potassium channels.
  - Custom Hearing Loss Research Panel
    
    This panel contains 201 genes for your selection, including PRPS1, POU3F4, SMPX, AIFM1 and COL4A6, which are X-linked non-syndromic hearing impairment-related genes.
  - Custom Multiple Epiphyseal Dysplasia Panel
    
    This panel contains 10 genes, such as COMP, COL9A1, COL9A2, COL9A3 and MATN3.
  - Custom Maturity-Onset Diabetes of the Young (MODY) Panel
    
    This panel contains 24 genes related to MODY1-8, such as GCK, HNF1A, IPF1 and PDX1.
  - Custom Cardiovascular Research Panels
    
    These panels detect variations that occur in cardiovascular diseases, including arrhythmogenic cardiomyopathy, dilated cardiomyopathy, hypertrophic cardiomyopathy, arrhythmia, comprehensive cardiomyopathy, cardiomyopathy and skeletal muscle diseases.
    - Custom Arrhythmogenic Cardiomyopathy Panel
      
      This panel contains 46 genes associated with arrhythmogenic cardiomyopathy for you to select, including DES, KCNE1, KCNE2, CD46 and others.
    - Custom Dilated Cardiomyopathy Panel
      
      This panel contains 78 genes related to dilated cardiomyopathy for you to select, such as DMD and ACTC1, etc.
    - Custom Hypertrophic Cardiomyopathy Panel
      
      This panel contains 84 genes which are associated with hypertrophic cardiomyopathy, including MYH7, MYBPC3, TNNT2, and other genes.
    - Custom Arrhythmia Panel
      
      This panel contains 47 genes which are associated with arrhythmia, including ABCC9, GNB5, SCN5Aand other genes.
    - Custom Comprehensive Cardiomyopathy Panel
      
      This panel contains 205 genes which are associated with a group of hereditary heterogeneous diseases for you to select, such as ABCC9, ACTC1, TNNC1, TNNT2, and TNNI3.
    - Custom Cardiomyopathy and Skeletal Muscle Diseases Panel
      
      This panel contains 54 genes which are associated with cardiomyopathy and skeletal muscle diseases, such as MLP, CFL2, LAP1, and TTN, etc.
  - Custom Neuromuscular Disorders Panels
    
    These panels detect variations that occur in neuromuscular disorders, including congenital myopathy/myotonia, limb girdle muscular dystrophy, metabolic myopathies, Walker-Warburg syndrome, spinal muscular atrophy, Charcot-Marie-tooth, and muscular dystrophy.
    - Custom Congenital Myopathy/Myotonia Panel
      
      This panel contains 30 genes for you to select, including SMN1, SMN2, and so on.
    - Custom Limb Girdle Muscular Dystrophy Panel
      
      This panel contains 115 genes for you to select, such as TRPV4, PMP22, P2X7, FGD4 and LRSAM1.
    - Custom Metabolic Myopathies Panel
      
      An optimized 45-gene panel about congenital myopathy/myotonia is provided for you to select, including ACTA1, CFL2, NEB, TNNT1, TPM2, TPM3, KLHL40 and KBTBD13.
    - Custom Walker-Warburg Syndrome Panel
      
      This panel contains 36 genes which are associated with limb-girdle muscular dystrophy, such as LMNA and CAPN3, etc.
    - Custom Spinal Muscular Atrophy Panel
      
      This panel contains 85 genes which are associated with muscular dystrophy, such as DMD, DMPK, CNBP and CLCN1, etc.
    - Custom Charcot-Marie-Tooth Panel
      
      This panel consists of 128 genes to detect and analyze disease-causing variants in metabolic myopathies.
    - Custom Muscular Dystrophy Panel
      
      This panel contains 14 genes which are associated with WWS for you to select, including FKTN, FKRP and LARGE.
- Custom Solid Tumor Panels
  
  These panels detect variations that occur in solid tumors, including ovarian cancer, melanoma, prostate cancer, renal cancer, sarcoma, as well as cancer hotspot detection.
  - Custom Ovarian Cancer Panel
    
    This panel contains 35 ovarian cancer-related genes for you to choose, such as BRCA1, TP53 and PTEN.
  - Custom Melanoma Panel
    
    This panel contains 28 melanoma-related genes, including NRAS, BRAF, CDKN2A, MDM2 and other genes. You can select the gene you are interested in to build an exclusive custom panel.
  - Custom Prostate Cancer Panel
    
    This is an optimized gene panel containing 19 genes associated with prostate cancer. You can select the gene you are interested in to build an exclusive custom panel.
  - Custom Renal Cancer Panel
    
    This is an optimized gene panel for renal cancer that contains 30 genes, such as VHL, associated with an increased risk of renal cancer.
  - Custom Sarcoma Panel
    
    This panel contains 50 sarcoma-related genes, such as ATM, ATR, ERCC2 and TP53.
  - Custom Cancer Hotspot Panel
    
    This panel contains 50 genes related to cancer hotspot mutations, and is a collection of common mutations in many cancers.
- Custom Haematology Panels
  
  These panels detect variations in haematology, including AML, CLL, core MPN, MDS/MPN overlap, myeloma, and thrombocytopenia.
  - Custom AML Panel
    
    This panel contains 42 genes associated with acute myeloid leukemia, including AML1, AML2, AML3and other related genes.
  - Custom CLL Panel
    
    The panel contains 28 chronic lymphocytic leukemia-related genes for your selection, such as NOTCH1 and SF3B1.
  - Custom Core MPN Panel
    
    This panel collects 34 core genes, such as JAK2V617F, which are associated with myeloproliferative neoplasms for you to choose.
  - Custom MDS/MPN Overlap Panel
    
    This panel contains 28 genes for you to choose, including RUNX1, CEBPA and others, which are associated with myelodysplastic/myeloproliferative overlap syndromes.
  - Custom Myeloma Panel
    
    This panel contains 59 myeloid-related genes for you to choose, such as ASXL1.
  - Custom Thrombocytopenia Panel
    
    This panel contains 32 genes associated with thrombocytopenia for you to select.
- Custom Metabolic Disorders Panels
  
  These panels detect variations that occur in metabolic disorders, including lysosomal storage disorders, urea cycle disorder, fatty acid oxidation disorder, and familial hypercholesterolemia.
  - Custom Lysosomal Storage Disorders Panel
    
    This panel contains 88 genes related to diseases such as mucopolysaccharide storage disease, mucolipidosis disorders, sphingolipid deposition disease and glycogen storage disease.
  - Custom Urea Cycle Disorder Panel
    
    The panel contains 56 genes associated with urea cycle disorders, including NAGS, CPSI, OTC, ASS, ASL and ARG.
  - Custom Fatty Acid Oxidation Disorder Panel
    
    The panel contains 23 genes that cause the lack of enzymes required for fatty acid oxidation.
  - Custom Familial Hypercholesterolemia Panel
    
    This panel contains 10 genes associated with familial hypercholesterolemia, including APOB, LDLRand PCSK9 genes and other related genes.
- Custom Ophthalmic Research Panels
  
  These panels detect variations in ophthalmic research, including retinitis pigmentosa, achromatopsia, cataract, glaucoma, Leber congenital amaurosis, Bardet-Biedl syndrome, ectopia lentis, vitreoretinopathy, macular degeneration, and high myopia.
  - Custom Retinitis Pigmentosa Panel
    
    This panel contains 12 genes for your selection, such as ATF6, CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H.
  - Custom Achromatopsia Panel
    
    This panel contains 85 genes for your selection, including NHS, OCRL1, EBP, BCOR, COL4A5 and others.
  - Custom Cataract Panel
    
    This panel contains 50 genes for your selection, such as CYP1B1, MYOC, PXDN and other associated genes.
  - Custom Glaucoma Panel
    
    This panel contains 34 genes for your selection, such as BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP1/BBS18.
  - Custom Leber Congenital Amaurosis Panel
    
    This panel contains 23 genes, including common pathogenic genes AIPL1, CEP290, CRB1, GUCY2D, RPE65 and new pathogenic gene NMNAT1, etc.
  - Custom Bardet-Biedl Syndrome Panel
    
    This panel contains 66 genes for your selection, such as MERTK, ERTK, and PRPF31.
  - Custom Ectopia Lentis Panel
    
    This panel contains 25 genes for you to select, including ADAMTSL4, LTBP2, and FBN1, etc.
  - Custom Vitreoretinopathy Panel
    
    This panel contains 23 genes for you to select, including BEST1, CAPN5 and ZNF408, etc.
  - Custom Macular Degeneration Panel
    
    This panel contains 38 genes associated with macular degeneration, including ABCA4, CFH, CDH3, DRAM2, IMPG1, and CERKL, etc.
  - Custom High Myopia Panel
    
    This panel contains 25 genes associated with high myopia, including LRPAP1, SLC39A5, SCO2 and PRIMPOL, etc.
- Custom Neurological Disorders Panels
  
  These panels detect variations that occur in neurological disorders, including amyotrophic lateral sclerosis, spinocerebellar ataxia, dystonia, congenital myasthenic syndrome, Alzheimer's disease, and Parkinson's disease.
  - Custom Amyotrophic Lateral Sclerosis Panel
    
    This panel contains 20 genes which related to ALS for your selection, including ALS2, OPTN, SPG11, and MATR3, etc.
  - Custom Spinocerebellar Ataxia Panel
    
    This panel contain 5 genes, including ATXN1, ATXN2, ATXN3, ATXN6 and ATXN7.
  - Custom Dystonia Panel
    
    This panel contain 25 genes, including TOR1A, THAP1 and GNAL.
  - Custom Congenital Myasthenic Syndrome Panel
    
    This panel contain 23 genes, such as CHAT, GFPT1, COLQ and SLC25A1.
  - Custom Alzheimer's Disease Panel
    
    This panel contains 35 genes associated with Alzheimer's disease, including three main causative genes APP, PSEN1 and PSEN2.
  - Custom Parkinson's Disease Panel
    
    This panel contains 46 genes associated with Parkinson's disease, including SNCA, UCH-L1, PARK7, and PINK1.
- Custom Immunology Panels
  
  These panels detect variations in immunology research, including autoimmune, autoinflammatory syndrome, chronic granulomatous disease, complement system disorder, primary immunodeficiency, and inflammation.
  - Custom Autoimmune Panel
    
    These panels detect variations in autoimmune research, including
    - Custom Multiple Sclerosis Panel
      
      This panel contains 28 genes for your selection, including the IL-8, CYP27B, COL11A2, DPH5, EXTL2, ALAS2 and others.
    - Custom Rheumatoid Arthritis Panel
      
      This panel contains 50 genes for your selection, including various HLA genes and AFF3, ARID5B, CD58, CTLA4, GATA3, etc.
    - Custom Systemic Lupus Erythematosus Panel
      
      This panel contains 42 genes related to systemic lupus erythematosus for your selection, including BANK1, STAT4 and other genes.
    - Custom Type 1 Diabetes Panel
      
      This panel contains 23 genes related to type 1 diabetes for your selection, including IDDM1, STAT4and other genes.
    - Custom Ankylosing Spondylitis Panel
      
      This panel contains 14 genes related to ankylosing spondylitis for your selection, including HLA-B14, HLA-B60, HLA-B39, MMP3, TNF-α, TGF-β and other genes.
    - Custom Celiac Disease Panel
      
      This panel contains 56 genes related to ankylosing spondylitis for your selection, including HLA-DQ2, HLA-DQ8 and other genes.
    - Custom Ulcerative Colitis Panel
      
      This panel contains 201 genes which associated with ulcerative colitis for you to select, including ECM1, HNF4a, GNA12, STAT1, STAT3 and STAT4, etc.
    - Custom Inflammatory Bowel Disease Panel
      
      This panel contains 46 genes which associated with inflammatory bowel disease for you to select, such as IL10, FOXP3 and other related genes.
  - Custom Autoinflammatory Syndrome Panel
    
    This panel contains 44 genes which associated with autoinflammatory syndrome for you to select, including MEFV, NLRP3, PSTPIP1 and other genes.
  - Custom Chronic Granulomatous Disease Panel
    
    The CYBA, NCF1, NCF2 and NCF4 genes which can cause the autosomal recessive CGD and the CYBB gene which can cause the X-linked recessive CGD are involved in our gene list.
  - Custom Complement System Disorder Panel
    
    This panel contains 93 genes associated with complement disorders for you to select, including C4A, C4B, PIGA, CD46 and others that contribute to complement system.
  - Custom Primary Immunodeficiency Panel
    
    This panel contains 50 genes related to primary immunodeficiency for you to select, including MDN1, BACH2, MAP3K7, CASP8AP2 and GJA10, etc.
  - Custom Human Inflammation Panel
    
    This panel contains 249 genes related to human inflammation for you to select, such as NF-κB, RLIP76 and NFAT.
- Custom Mitochondrial Disease Panel
  
  This panel contains 156 genes related to mitochondrial disease for your selection, from mitochondrial DNA and genomic DNA.

Gene Panel Workflow

CD Genomics provides the accurate and cost-effective custom NGS panel design, optimize, sequencing and bioinformatics analysis. Our professional expert team executes quality management, following every procedure to ensure confident and unbiased results. The general workflow for custom NGS panel sequencing is outlined below.

Custom NGS Panel

Features of Custom NGS Panel

Target-enrichment sequencing by Illumina provides ultra-deep sequencing to target specific genomic regions with lower costs.
>99% sensitivity and specificity are ensured.
Low allele frequency mutations or new mutations are reliably detected.
Custom panel content is designed to keep up with the frontiers from current literature.
Targeted NGS sequencing is provided to detect the mutation in target genes.
Strict quality control throughout the pipeline workflow to ensure the accuracy and repeatability of the enrichment, sequencing and bioinformatics analysis.

Select and submit the target genes you are interested in and we will send you a design coverage report and provide you with a quote. If you have any questions or requirements, please feel free to contact us, we will help you solve the problems and further optimize to meet your needs.

* For Research Use Only. Not for use in diagnostic procedures.