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Results: 1 to 14 of 14 (representing 7 labs)

Tests names and labsConditionsGenes and analytesMethods

Mandibuloacral dysplasia with type B lipodystrophy

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Restrictive Dermopathy and Mandibuloacral Dysplasia with Type B Lipodystrophy Testing via the ZMPSTE24 Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Partial Lipodystrophy Panel

Genetic Services Laboratory University of Chicago
United States
78
  • C Sequence analysis of the entire coding region

Comprehensive Lipodystrophy Panel

Genetic Services Laboratory University of Chicago
United States
1011
  • C Sequence analysis of the entire coding region

Mandibuloacral dysplasia with type B lipodystrophy (sequence analysis of ZMPSTE24 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

ZMPSTE24

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias NGS panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
371161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia: Sequencing Panel

Emory Genetics Laboratory Emory University School of Medicine
United States
365163
  • C Sequence analysis of the entire coding region

Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel

Emory Genetics Laboratory Emory University School of Medicine
United States
8134
  • C Sequence analysis of the entire coding region

Endocrine Disorders: Sequencing Panel

Emory Genetics Laboratory Emory University School of Medicine
United States
10857
  • C Sequence analysis of the entire coding region

Lipodystrophy NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
3810
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ZMPSTE24-Related Disorders: ZMPSTE24 Gene Deletion/Duplication

Emory Genetics Laboratory Emory University School of Medicine
United States
21
  • D Deletion/duplication analysis

ZMPSTE24-Related Disorders: ZMPSTE24 Full Gene Sequencing

Emory Genetics Laboratory Emory University School of Medicine
United States
21
  • C Sequence analysis of the entire coding region

ZMPSTE24 gene sequencing

Health in Code S.L.
Spain
21
  • C Sequence analysis of the entire coding region

Results: 1 to 14 of 14

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.

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