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Neonatal Progeroid Syndrome
Research Genetic test
Help
offered by
Lipodystrophy Laboratory
GTR Test Accession: Help GTR000051231.3
INHERITED DISEASECONNECTIVE TISSUEDYSMORPHOLOGY ... View more
Last updated in GTR: 2015-07-06
View version history
Last annual review date for the lab: 2023-07-20 Past due LinkOut
At a Glance
Conditions (1): Help
Neonatal pseudo-hydrocephalic progeroid syndrome
Genes (1): Help
FBN1 (15q21.1)
Study description: Help
To study genetic and molecular basis of the disease.
Recruitment status: Help
Currently closed
Eligibility criteria: Help
Not provided
Methods (2): Help
Molecular Genetics - Mutation scanning of the entire coding region: Bi-directional Sanger Sequence Analysis; Next-Generation (NGS)/Massively parallel sequencing (MPS)
Study Description
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
To study genetic and molecular basis of the disease.
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: 2
Method Category Help
Test method Help
Instrument *
Mutation scanning of the entire coding region
Bi-directional Sanger Sequence Analysis
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
Additional Information

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