Lactose intolerance (lactase deficiency) (LCT) sequencing, whole blood

New Test in NOÛS Catalog

Test Code: 4923

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Delivery term:	45 days
Information:
Congenital lactase deficiency, also called congenital alactasia, is a disorder in which infants are unable to break down lactose in breast milk or formula. This form of lactose intolerance results in severe diarrhea. If affected infants are not given a lactose-free infant formula, they may develop severe dehydration and weight loss. Lactose intolerance in infancy resulting from congenital lactase deficiency is a rare disorder. Lactose intolerance in infants (congenital lactase deficiency) is caused by mutations in the LCT gene. The type of lactose intolerance that occurs in infants (congenital lactase deficiency) is inherited in an autosomal recessive pattern.
Links:
OMIM Entry - # 223000 - LACTASE DEFICIENCY, CONGENITAL
Orphanet- Congenital lactase deficiency
OMIM Entry - - 603202 - LACTASE; LCT

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