MOLECULAR STUDY AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE, (PKHD1, EXONS 32,35), SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4196

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	32 days
Information:
Autosomal recessive polycystic kidney disease (PQRAR) is one of the most important children's inherited nephropathy, that affects 1/40 000 children. Its prevalence in the general population is 1/85 000. Usually manifests in childhood, often fatal outcome in infancy or early childhood, but there is a wide spectrum of clinical manifestations may include up to adulthood. Besides the presence of renal cysts, this disease is associated with hepatic fibrosis, biliary dysgenesis and portal fibrosis.
Links:
OMIM Entry - # 263200 - POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD
Orphanet- Autosomal recessive polycystic kidney disease
OMIM Entry - - 606702 - PKHD1 GENE; PKHD1

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