COL3A1 Archives - Laboratory For Precision Diagnostics

Comprehensive EDS Panel

Posted on February 7, 2017April 9, 2020 by Dru Leistritz

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.

Classical and Vascular Ehlers-Danlos Syndrome Panel

Posted on December 30, 2015June 22, 2018 by Melanie Pepin

The Core Ehlers-Danlos gDNA sequencing Panel includes testing for the classic and the vascular forms of Ehlers-Danlos syndrome. The classic type of Ehlers-Danlos syndrome (EDS types I & II) is an autosomal dominant disorder characterized by skin hyperextensibility, increased skin fragility, joint hypermobility, and abnormal wound healing. Recent studies indicate that as many as 90% of individuals with EDS classic type have underlying pathogenic variants in COL5A1 or COL5A2, the genes that encode type V collagen. The vascular form of Ehlers-Danlos syndrome (vEDS) is characterized by thin, translucent skin with visible veins; marked bruising; joint dislocations; and the major complications of arterial, bowel and uterine rupture.

Please consult the Ehlers-Danlos Syndrome Test Guide for more information on the diagnosis.

COL3A1 gDNA testing

Posted on December 30, 2015February 7, 2023 by Melanie Pepin

The vascular form of Ehlers-Danlos syndrome (vEDS) is characterized by thin, translucent skin with visible veins; marked bruising; joint dislocations; and the major complications of arterial, bowel and uterine rupture.

The vast majority of probands in families with this form of EDS are identified on the basis of a major complication either bowel perforation or vascular aneurysm or rupture. The International Ehlers-Danlos Foundation Advisory Board set the following guidelines for determination of the clinical diagnosis of EDS type IV. DNA-based testing is recommended for those who meet these guidelines. Note, however, that individuals with nonsense mutations of COL3A1 are less likely to have similar physical characteristics. The clinical diagnosis of EDS type IV is highly suspected when two major diagnostic criteria are present:

Major clinical diagnostic criteria:

Intestinal rupture
Arterial rupture
Uterine rupture during pregnancy
Family history of the vascular type of EDS

Minor diagnostic criteria alone are not sufficient to warrant the diagnosis unless identified in an individual with a major criteria.

Thin, translucent skin (especially noticeable on the chest/abdomen)
Easy bruising (spontaneous or with minimal trauma)
Characteristic facial appearance (thin lips and philtrum, small chin, thin nose, large eyes)
Acrogeria (an aged appearance to the extremities, particularly the hands)
Hypermobility of small joints
Tendon/muscle rupture
Early-onset varicose veins
Arteriovenous carotid-cavernous sinus fistula
Pneumothorax/pneumohemothorax
Chronic joint subluxations/dislocations
Congenital dislocation of the hips
Talipes equinovarus (clubfoot)
Gingival recession

Please consult the Ehlers-Danlos Syndrome Test Guide for more information on the diagnosis.

Arterial Aneurysm Panel

Posted on October 29, 2015August 20, 2020 by Melanie Pepin

The CDL offers a testing panel sequencing 25 genes associated with familial arterial aneurysms, including genes for Marfan Syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos Syndrome, and TAAD: ACTA2, COL3A1, FBN1, FBN2, MAT2A, MYH11, MYLK, PRKG1, SKI, SLC2A10, SMAD3, TGFBR1, TGFBR2, TGFB2, TGFB3, FOXE3, BGN, LOX, MFAP5, NOTCH1, PLOD3, SMAD2, SMAD4, SMAD6, COL1A1, and CBS. This panel is recommended for those individuals with vascular complications (arterial aneurysms, dissection, rupture) and a family history of similar complications with features overlapping with Marfan Syndrome and vascular Ehlers-Danlos Syndrome. Please consult our Test Guide on Familial Aneurysm for more information.