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Results: 1 to 18 of 18 (representing 11 labs)

Tests names and labsConditionsGenes and analytesMethods

Autoinflammation, lipodystrophy, and dermatosis syndrome

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

CANDLE Syndrome via the PSMB8 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Periodic Fever Syndromes Sequencing Panel

PreventionGenetics
United States
1513
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lipodystrophies and progeroid syndromes (NGS panel for 25 genes)

CGC Genetics
Portugal
2525
  • C Sequence analysis of the entire coding region

Lipodystrophies (NGS panel for 17 genes)

CGC Genetics
Portugal
1717
  • C Sequence analysis of the entire coding region

PSMB8

Institute for Human Genetics University Clinic Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Lipodystrophies and progeroid syndromes (NGS panel for 25 genes)

CGC Genetics
Portugal
2525
  • C Sequence analysis of the entire coding region

Lipodystrophies (NGS panel for 17 genes)

CGC Genetics
Portugal
1717
  • C Sequence analysis of the entire coding region

Invitae Autoinflammatory Syndromes Panel

Invitae
United States
4826
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Primary Immunodeficiency Panel

Invitae
United States
282207
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autoinflammation, lipodystrophy, and dermatosis syndrome

Labor Dr. Wisplinghoff
Germany
11
  • C Sequence analysis of the entire coding region

Autoinflammatory Disorders Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
4126
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Periodic Fever Syndromes Panel

Invitae
United States
2012
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Single gene testing PSMB8

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Autoinflammation, lipodystrophy and dermatosis syndrome (sequence analysis of PSMB8 gene)

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

PSMB8

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autoinflammatory panel

Genome Diagnostics Laboratory University Medical Center Utrecht
Netherlands
2819
  • C Sequence analysis of the entire coding region

PSMB8

Genome Diagnostics Laboratory University Medical Center Utrecht
Netherlands
11
  • C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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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