List of diseases covered by
Ehlers-Danlos Syndrome NGS panel
| Gene | Condition |
| ADAMTS2 | Ehlers-Danlos syndrome, dermatosparaxis type |
| AEBP1 | Ehlers-Danlos syndrome, classic-like, 2 |
| ALDH18A1 | Cutis laxa, autosomal dominant 3; Cutis laxa, autosomal recessive, type IIIA; Spastic paraplegia 9A, autosomal dominant; Spastic paraplegia 9B, autosomal recessive |
| ATP7A | Occipital horn syndrome; Menkes disease; Spinal muscular atrophy, distal, X-linked 3 |
| ATP6V0A2 | Cutis laxa, autosomal recessive, type IIA; Wrinkly skin syndrome |
| B3GALT6 | Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures |
| B3GAT3 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects |
| B4GALT7 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 |
| CHST14 | Ehlers-Danlos syndrome, musculocontractural type 1 |
| COL12A1 | Bethlem myopathy 2; Ullrich congenital muscular dystrophy 2 |
| COL1A1 | Ehlers-Danlos syndrome, arthrochalasia type, 1; Caffey disease; Osteogenesis imperfecta, type I; Osteogenesis imperfecta, type II; Osteogenesis imperfecta, type III; Osteogenesis imperfecta, type IV |
| COL1A2 | Ehlers-Danlos syndrome, arthrochalasia type, 2; Ehlers-Danlos syndrome, cardiac valvular type; Osteogenesis imperfecta, type II; Osteogenesis imperfecta, type III; Osteogenesis imperfecta, type IV |
| COL3A1 | Ehlers-Danlos syndrome, vascular type |
| COL5A1 | Ehlers-Danlos syndrome, classic type, 1 |
| COL5A2 | Ehlers-Danlos syndrome, classic type, 2 |
| C1R | Ehlers-Danlos syndrome, periodontal type, 1 |
| C1S | Ehlers-Danlos syndrome, periodontal type, 2; C1s deficiency |
| GORAB | Geroderma osteodysplasticum |
| DSE | Ehlers-Danlos syndrome, musculocontractural type 2 |
| EFEMP2 | Cutis laxa, autosomal recessive, type IB |
| ELN | Cutis laxa, autosomal dominant; Supravalvar aortic stenosis |
| FBLN5 | Cutis laxa, autosomal dominant 2; Cutis laxa, autosomal recessive, type IA; Neuropathy, hereditary, with or without age-related macular degeneration |
| FBN1 | Acromicric dysplasia; Ectopia lentis, familial; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant |
| FKBP14 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 |
| FLNA | FG syndrome 2; Cardiac valvular dysplasia, X-linked; Congenital short bowel syndrome; Frontometaphyseal dysplasia 1; Heterotopia, periventricular; Melnick-Needles syndrome; Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II; Terminal osseous dysplasia |
| LTBP4 | Cutis laxa, autosomal recessive, type IC |
| PLOD1 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 |
| PRDM5 | Brittle cornea syndrome 2 |
| PYCR1 | Cutis laxa, autosomal recessive, type IIB; Cutis laxa, autosomal recessive, type IIIB |
| RIN2 | Macrocephaly, alopecia, cutis laxa, and scoliosis |
| SLC39A13 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 |
| SMAD2 | Arterial aneurysmal disease |
| SMAD3 | Loeys-Dietz syndrome 3 |
| TGFB2 | Loeys-Dietz syndrome 4 |
| TGFBR1 | Loeys-Dietz syndrome 1 |
| TGFBR2 | Loeys-Dietz syndrome 2; |
| TNXB | Ehlers-Danlos syndrome, classic-like, 1 |
| ZNF469 | Brittle cornea syndrome 1 |