MOLECULAR STUDY BERARDINELLI SYNDROME (BSCL2 GENE) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4235

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	32 days
Information:
Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance. Hepatomegaly secondary to hepatic steatosis occurs in virtually all individuals. Skeletal muscle hypertrophy occurs in all affected individuals. Hypertrophic cardiomyopathy is reported in 20-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality. Two causative genes have been identified: AGPAT2 (9q34) and BSCL2 (11q13). Intellectual deficit is observed in the majority of patients carrying BSCL2 mutations. Transmission is autosomal recessive.

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