GTR Home > Tests > Berardinelli-Seip Congenital Lipodystrophy

Overview

Test name

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Berardinelli-Seip Congenital Lipodystrophy

Purpose of the test

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Contribute to generalizable knowledge

Condition

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1 condition tested. Click Condition tab for more information.

Methodology

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Molecular Genetics
SMutation scanning of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

2 genes and variants. Click Methodology tab for more information.

Genes

Description of study

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To search for mutations in AGPAT2 and BSCL2 genes and to study genotype-phenotype relationships.

Researchers

Person responsible for the studyHelpAbhimanyu Garg, MD, Lab Director
Study contactHelpAbhimanyu Garg, MD, Lab Director, abhimanyu.garg@utsouthwestern.edu, 214-648-2895 (phone), 214-648-0553 (fax)

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