MOLECULAR STUDY BARAKAT SYNDROME (GATA3 GENE) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4302

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	37 days
Information:
The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease. The exact prevalence is unknown, but the disease is considered to be very rare, with about two dozen patients reported so far. Patients may present at any age with hypocalcemia, tetany, or afebrile convulsions. Hearing loss is usually bilateral and may range from mild to profound impairment. Renal disease manifestations include nephrotic syndrome, cystic kidney, renal dysplasia, hypoplasia or aplasia, pelvicalyceal deformity, vesicoureteral reflux, chronic renal failure, hematuria, proteinuria and renal scarring. The defect in the majority of cases was mapped to chromosome 10p (10pter-p13 region or 10p14-p15.1). Haploinsufficiency (deletions) of zinc-finger transcription factor GATA3, or mutations in the GATA3 gene appear to be the underlying cause of this syndrome. Inheritance is probably autosomal dominant.
Links:
OMIM Entry - # 146255 - HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE; HDR
OMIM Entry - - 131320 - GATA-BINDING PROTEIN 3; GATA3

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