MOLECULAR STUDY EHLERS-DANLOS SYNDROME TYPE III (TNXB) SECUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4104

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	35 days
Information:
Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations. Onset can be at any age but it is difficult to assess in young children due to higher joint laxity at this age. The primary manifestation is hyperlaxity involving any joints: subluxations and dislocations are common and may occur spontaneously or following minor trauma. Hyperlaxity is more pronounced in younger patients and in females. Complications often include chronic pain affecting physical activity, fatigue, sleep disorders, early osteoarthritis and osteoporosis, and cardiovascular symptoms (chest pain, palpitations, postural instability). In most cases, one or both parents of an affected individual have some degree of joint laxity, easy bruising, or soft skin, and some of these symptoms occasionally seem to segregate within the patient's family. The underlying pathogenic mechanism is unknown. A small number of patients have been found to have mutations in TNXB gene (6p21.3). Transmission is autosomal dominant. It is not known whether penetrance is complete but there is highly variable expressivity. Some cases may be autosomal recessive.
Links:
OMIM Entry - # 130020 - EHLERS-DANLOS SYNDROME, TYPE III
Orphanet- Ehlers Danlos syndrome hypermobility type Ehlers Danlos syndrome type 3
OMIM Entry - - 600985 - TENASCIN XB; TNXB

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