Custom Inherited Disease Panels
Inherited diseases refer to diseases caused by changes in the genetic material in cells (such as gene mutation, etc.), which are completely or partially determined by genetic factors. CD-Genomics offers a series of panel of genetic diseases, mainly including the fibrosis, autism spectrum disorders, epilepsy, hearing loss, multiple epiphyseal dysplasia, maturity-onset diabetes of the young (MODY), inherited cardiovascular diseases and inherited neuromuscular diseases. Over 900 genes for you to choose from. Targeted NGS sequencing and Illumina MiSeq/Ion PGM system ensures high throughput and high-quality coverage to detect gene variation, so that we can obtain reliable results quickly, accurately and at low cost.
This panel detects multiple variations that occur in CFTR gene.
This panel contains 95 genes for your selection, including CHD8, ARX, NRP2, EHMT1, PCDH9, NLGN4X and others.
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.
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.
This panel contains 10 genes, such as COMP, COL9A1, COL9A2, COL9A3 and MATN3.
This panel contains 24 genes related to MODY1-8, such as GCK, HNF1A, IPF1 and PDX1.
This panel contains 46 genes associated with arrhythmogenic cardiomyopathy for you to select, including DES, KCNE1, KCNE2, CD46 and others.
This panel contains 78 genes related to dilated cardiomyopathy for you to select, such as DMD and ACTC1, etc.
This panel contains 84 genes which are associated with hypertrophic cardiomyopathy, including MYH7, MYBPC3, TNNT2, and other genes.
This panel contains 47 genes which are associated with arrhythmia, including ABCC9, GNB5, SCN5A and other genes.
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.
This panel contains 54 genes which are associated with cardiomyopathy and skeletal muscle diseases, such as MLP, CFL2, LAP1, and TTN, etc.
This panel contains 30 genes for you to select, including SMN1, SMN2, and so on.
This panel contains 115 genes for you to select, such as TRPV4, PMP22, P2X7, FGD4 and LRSAM1.
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.
This panel contains 36 genes which are associated with limb-girdle muscular dystrophy, such as LMNA and CAPN3, etc.
This panel contains 85 genes which are associated with muscular dystrophy, such as DMD, DMPK, CNBP and CLCN1, etc.
This panel consists of 128 genes to detect and analyze disease-causing variants in metabolic myopathies.
This panel contains 14 genes which are associated with WWS for you to select, including FKTN, FKRP and LARGE.