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GTR Home > Tests > Familial Partial Lipodystrophy (FPLD) Panel

Overview

Test order codeHelp: 12605

Test name

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Familial Partial Lipodystrophy (FPLD) Panel

Purpose of the test

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This is a clinical test intended for Help: Risk Assessment, Diagnosis, Mutation Confirmation, Pre-symptomatic, Screening

Condition

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How to order

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Please visit Lab website for details. Additional specimen types may be acceptable based on method. Please contact us about prenatal cases.
Order URL Help: https://www.preventiongenetics.com/forms.php

Specimen source

Fresh tissue
Fibroblasts
Cell culture
Isolated DNA
Fetal blood
Peripheral (whole) blood
White blood cell prep

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Other
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Other
TTargeted variant analysis
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3730 capillary sequencing instrument

Summary of what is tested

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Clinical utility

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Not provided

Clinical validity

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Not provided

Test services

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  • Custom Deletion/Duplication Testing, Order code: 12605
  • Custom Sequence Analysis, Order code: 100, 200, 300
  • Maternal cell contamination study (MCC), Order code: 800
  • Clinical Testing/Confirmation of Mutations Identified Previously, Order code: 12605
  • Custom Prenatal Testing, Order code: 990

Practice guidelines

  • NICE, 2023
    UK NICE Guidance, Clinical Guideline CG181, Cardiovascular disease: risk assessment and reduction, including lipid modification, 2023
  • NICE, 2022
    UK NICE Guideline NG18, Diabetes (type 1 and type 2) in children and young people: diagnosis and management
  • NICE, 2022
    UK NICE Guideline NG28, Type 2 diabetes in adults: management, 2022
  • NICE, 2022
    UK NICE Guideline NG136, Hypertension in adults: diagnosis and management, 2022
  • NICE, 2020
    UK NICE Guideline NG3, Diabetes in pregnancy: management from preconception to the postnatal period
  • NICE, 2019
    UK NICE Guideline NG19, Diabetic foot problems: prevention and management, 2019

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.