Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
Number of Panel Genes21
The dominant & recessive Ehlers-Danlos syndrome NGS panel is designed to detect mutations in genes that cause clinical features related to Ehlers-Danlos syndrome (EDS). EDS is a connective tissue disorder characterized by joint hypermobility, skin hyperextensibility and tissue fragility. There are numerous subtypes of EDS each with distinct genetic and clinical findings.
The dominant & recessive Ehlers-Danlos syndrome NGS panel is designed to detect mutations in genes that cause clinical features related to Ehlers-Danlos syndrome (EDS). EDS is a connective tissue disorder characterized by joint hypermobility, skin hyperextensibility and tissue fragility. There are numerous subtypes of EDS each with distinct genetic and clinical findings. CTGT offers several panel options for Ehlers-Danlos syndrome testing including a classic type panel, a core panel, a dominant panel, a recessive panel and a combined dominant and recessive panel. In addition to genes associated with the dominant and recessive forms of EDS, the panels also contain genes for disorders included in the differential diagnosis of EDS.
The dominant & recessive Ehlers-Danlos syndrome NGS panel consists of twenty-one genes: ADAMTS2, AEBP1, ATP7A, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL12A1, DSE, FKBP14, FLNA, PLOD1, PRDM5, SLC39A13 and ZNF469.
Copy number variation (CNV) analysis of the dominant & recessive Ehlers-Danlos syndrome genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests unless otherwise indicated
Dominant EDS Panel
| Gene | Disorder | MIM | Inheritance |
| C1R | Ehlers-Danlos syndrome, periodontal type 1 (EDSPD1) | 130080 | AD |
| C1S | Ehlers-Danlos syndrome, periodontal type 2 (EDSPD2) | 617174 | AD |
| COL5A1 | Ehlers-Danlos syndrome, classic type, 1 (EDSCL1) | 130000 | AD |
| COL5A2 | Ehlers-Danlos syndrome, classic type, 2 (EDSCL2) | 130010 | AD |
| COL3A1 | Ehlers-Danlos syndrome, vascular type (EDSVASC) | 130050 | AD |
| COL1A1 | Ehlers-Danlos syndrome, arthrochalasia type, 1 (EDSARTH1) | 130060 | AD |
| COL1A2 | Ehlers-Danlos syndrome, arthrochalasia type, 2 (EDSARTH2) | 617821 | AD |
| COL12A1 | Bethlem myopathy 2 (BTHLN2) | 616471 | AD |
| FLNA | Periventricular nodular heterotopia 1 (PVNH1) | 300049 | XLD |
Recessive EDS Panel
| Gene | Disorder | MIM | Inheritance |
| ADAMTS2 | Ehlers-Danlos syndrome, dermatosparaxis type (EDSDERMS) | 225410 | AR |
| AEBP1 | Ehlers-Danlos syndrome, classic-like, 2 (EDSCLL2) | 618000 | AR |
| ATP7A | Occipital horn syndrome (OHS) | 304150 | XLR |
| B3GALT6 | Ehlers-Danlos syndrome, spondylodysplastic type, 2 (EDSSPD2) | 615349 | AR |
| B4GALT7 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 (EDSSPD1) | 130070 | AR |
| CHST14 | Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) | 601776 | AR |
| COL1A2 | Ehlers-Danlos syndrome, cardiac valvular type (EDSCV) | 225320 | AR |
| DSE | Ehlers-Danlos syndrome, musculocontractural type, 2 (EDSMC2) | 615539 | AR |
| FKBP14 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 (EDSKSCL2) | 614557 | AR |
| PLOD1 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (EDSKSCL1) | 225400 | AR |
| PRDM5 | Brittle cornea syndrome 2 (BCS2) | 614170 | AR |
| SLC39A13 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 (EDSSPD3) | 612350 | AR |
| ZNF469 | Brittle cornea syndrome 1 (BCS1) | 229200 | AR |
Gene(s)
Disease Group
MIM
Methodology
Billing
Ordering
Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)
Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Fibroblasts: 2 confluent T-25 flasks
Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
