MOLECULAR STUDY TRANSCOBALAMIN DEFICIENCY (TCN2) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4059

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	30 days
Information:
Transcobalamin II (TCII) deficiency is an autosomal recessive disease marked by defective intestinal absorption of vitamin B12. Homozygous TCII deficiency causes non-specific symptoms in one- and two-month-old infants (e.g. vomiting, poor growth) and infections due to an immune deficiency (hypogammaglobulinemia). The main symptom is megaloblastic anemia. Serum cobalamins, however, are normal, since the major circulating form, methyl vitamin B12, is bound to another transport protein (transcolabamin I). Specific treatment consists of massive per os or parenteral intake of vitamin B12. Symptoms disappear completely, except when the diagnosis is delayed and neurological signs have become permanent.
Links:
OMIM Entry - # 275350 - TRANSCOBALAMIN II DEFICIENCY
Orphanet- Transcobalamin II deficiency
OMIM Entry - - 613441 - TRANSCOBALAMIN II; TCN2

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