MOLECULAR STUDY HYPOPHOSPHATEMIA AUTOSOMAL DOMINANT (FGF23) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4092

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	25 days
Information:
Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia. During childhood, the disease manifests with short stature, rickets affecting primarily lower extremity deformities. When the disease manifests during adulthood, clinical findings include bone pain (hips, legs, neck), fatigue, muscle weakness, and repeated bone fractures. Some patients are asymptomatic throughout life, some patients alternate between affected and unaffected. The disease is caused by "activating" mutations in the FGF23 gene (12p13). ADHR is transmitted as an autosomal dominant trait with incomplete penetrance. Diagnosis is based on clinical findings, and biochemical and X-ray examination. Molecular genetic testing confirms the diagnosis. With treatment, prognosis is very good: growth is normalized and skeletal deformities can be corrected.
Links:
OMIM Entry - # 193100 - HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR
Orphanet- Autosomal dominant hypophosphatemic rickets Autosomal dominant hypophosphatemia
OMIM Entry - - 605380 - FIBROBLAST GROWTH FACTOR 23; FGF23

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