GTR Home > Tests > Congenital Generalised Lipodystrophy Type 2

Overview

Test order codeHelp: BSCL2

Test name

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Congenital Generalised Lipodystrophy Type 2 (BSCL2)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Risk Assessment

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
ESequence analysis of select exons
Uni-directional Sanger sequencing
  • Applied Biosystems 3730 capillary sequencing instrument
CSequence analysis of the entire coding region
Uni-directional Sanger sequencing
  • Applied Biosystems 3730 capillary sequencing instrument

Summary of what tested

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

Genes and variants

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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Refer to list of tests and instructions on website
Order URL Help: http://www.rdehospital.nhs.uk/prof/molecular_genetics/default.html

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