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Familial Partial Lipodystrophy Type 2
Research Genetic test
Help
offered by
Lipodystrophy Laboratory
GTR Test Accession: Help GTR000051225.1
INHERITED DISEASECONNECTIVE TISSUEDYSMORPHOLOGY ... View more
Registered in GTR: 2014-01-28
View version history
Last annual review date for the lab: 2023-07-20 Past due LinkOut
At a Glance
Conditions (1): Help
Familial partial lipodystrophy, Dunnigan type
Genes (1): Help
LMNA (1q22)
Study description: Help
To search for mutations in lamin A/C gene and relationship …
Recruitment status: Help
Currently closed
Eligibility criteria: Help
Not provided
Methods (1): Help
Molecular Genetics - Mutation scanning of the entire coding region: Bi-directional Sanger Sequence Analysis
Study Description
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
To search for mutations in lamin A/C gene and relationship of genotype/phenotype.
Offered by: Help
Lipodystrophy Laboratory
Person responsible for the study: Help
Abhimanyu Garg, MD, Lab Director
Study contact: Help
Abhimanyu Garg, MD, Lab Director
Research contact policy: Help
Laboratory can only accept contact from health care providers. Patients/families interested in participating in a research study should discuss this option with their health care provider.
Recommended fields not provided:
Protocol number
Participation
Recruitment status: Help
Currently closed
Consent form: Help
Not provided
Recommended fields not provided:
Eligibility criteria
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Mutation scanning of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
Additional Information

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