The testing for EDS periodontal type (also known as EDS type VIII) includes genomic sequence analysis of C1S and C1R. Researchers in our group recently described pathogenic variants in these two genes as the underlying cause of EDS VIII. This autosomal dominant disorder is characterized by early-onset periodontitis and tooth loss.
The Collagen Diagnostic Laboratory specializes in testing for Ehlers-Danlos Syndrome and offers the most comprehensive EDS testing available. The Comprehensive EDS Panel includes testing for 15 genes associated with Ehlers-Danlos Syndrome, including the recently described Periodontal form of EDS (EDS type VIII). Panel genes: COL5A1, COL5A2, COL3A1, FLNA, PLOD1, COL1A1, COL1A2, ADAMTS2, C1S, C1R, ATP7A, CHST14, FKPB14, SLC39A13, and AEBP1.
COMPREHENSIVE EDS PANEL
| CLASSIFICATION | CLINICAL FEATURES | INHERITANCE | GENE(S) | AVAILABLE CLINICAL TESTING |
|---|---|---|---|---|
| Classical Type (EDS types I) | Soft, velvety, hyperextensible skin; easy bruising; "cigarette paper" scars | Dominant | COL5A1 and COL5A2 | Classical EDS EDS Panel Comprehensive EDS Panel |
| Classical type (EDS type II) | Similar to EDS type I but less severe. Soft, hyperextensible skin; joint hypermobility; bruising; normal scar formation | Dominant (rare recessives) | COL5A1 and COL5A2 | Classical EDS |
| Classical-like, 2 | Joint and skin laxity, osteoporosis, osteoarthritis, abnormal scarring, joint dislocations | Recessive | AEBP1 | Comprehensive EDS Panel |
| Hypermobility Type (EDS type III) or Tenascin Deficient Type | Marked large and small joint hypermobility, joint pain, easy bruising, easy bleeding, normal scars | Dominant | TNXB (<5%) | (Not available through CDL) |
| Vascular Type (EDS type IV) | Thin, translucent skin with visible veins; marked bruising; skin and joints have normal extensibility; arterial, bowel and uterine rupture | Dominant | COL3A1 | Vascular, type IV |
| Ocular-scoliotic (Kyphoscoliosis) Type (EDS type VI) | Progressive kyphoscoliosis, joint hypermobility, smooth, hyperelastic and fragile skin, muscular hypotonia and scleral fragility and rupture of the globe | Recessive | PLOD1 | Ocular-scoliotic, type VI |
| Arthrochalasia Type (EDS type VIIA and VIIB) | Congenital hip dislocation; very soft, fragile, bruisable skin, marked joint hypermobility, blue sclerae, small jaw, hypertrichosis | Dominant | COL1A1, COL1A2 | Arthrochalasia, type VII A/B (Exon 6 COL1A1/2 ) |
| Dermatosparaxis Type (EDS type VIIC) | Soft and very thin, fragile skin (tearing of the skin), stretchy skin, easy bruising, joint hypermobility | Recessive | ADAMTS2 | Dermatosparaxis, Type VIIC |
| Cardiac-Valvular Form | Joint hypermobility, skin hyperextensibility, cardiac valvular defects | Recessive | COL1A2 | Comprehensive EDS Panel |
| Periodontal (EDS type VIII) | Periodontitis, gingival recession, early tooth loss, easy bruising, skin hyperpigmentation, atrophic scars, joint hypermobility, thin skin | Dominant | C1S, C1R | Peridontal, Type VIII |
| Musculocontractural Type | Craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, hypotonia, thin skin, easy bruising, atrophic scarring, joint hypermobility | Recessive | CHST14 | Comprehensive EDS Panel |
| EDS with progressive kyphoscoliosis, myopathy, and hearing loss | Severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, elastic skin, myopathy, hearing loss | Recessive | FKBP14 | FKBP14-Related EDS |
| Occipital horn (EDS type XI) | Easy bruising, hyperelastic skin, hernias, bladder diverticula, joint hypermobility, varicosities, multiple skeletal abnormalities | X-Linked Recessive | ATP7A | Comprehensive EDS Panel |
| Periventricular heterotopia variant (PVNH4) | Epilepsy, cardiac defects, joint hypermobility | X-Linked Dominant | FLNA | Comprehensive EDS Panel |
| Spondylocheirdysplastic form | Short stature, blue sclerae, thin and hyperelastic skin, muscle atrophy | Recessive | SLC39A13 | Comprehensive EDS Panel |
Please consult the Ehlers-Danlos Syndrome Test Guide for more information.