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Results: 1 to 20 of 49

Tests names and labsConditionsGenes, analytes, and microbesMethods

Autoinflammatory Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
182117
  • C Sequence analysis of the entire coding region

PSMB8 Gene Autoinflammation, lipodystroph and dermatosis syndrome NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

PSMB8 - NGS including CNV analysis

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

CentoImmuno Panel

Centogene AG - the Rare Disease Company
Germany
323329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
754562
  • D Deletion/duplication analysis

Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040, Autosomal recessive; ALDD (Nakajo-Nishimura syndrome) (PSMB8 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Generalized, Partial and Atypical Lipodystrophy Panel

PreventionGenetics, part of Exact Sciences
United States
5729
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Familial Partial Lipodystrophy (FPLD) Panel

PreventionGenetics, part of Exact Sciences
United States
2916
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Invitae Autoinflammatory and Autoimmunity Syndromes Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
223154
  • D Deletion/duplication analysis

Invitae Primary Immunodeficiency Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
552424
  • D Deletion/duplication analysis

CANDLE Syndrome via the PSMB8 Gene

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

Invitae Periodic Fever Syndromes Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
3218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Periodic Fever Syndromes Panel

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

Lipodystrophy Panel

Genetic Services Laboratory University of Chicago
United States
1720
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneSeq® Immuno: Periodic Fever Syndromes Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
158
  • C Sequence analysis of the entire coding region

Primary Immunodeficiency Panel

Baylor Genetics
United States
1463
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

CGC Genetics Unilabs
Portugal
11307
  • C Sequence analysis of the entire coding region

Lipodystrophies and progeroid syndromes (WES based NGS panel of 25 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
125
  • C Sequence analysis of the entire coding region

Haematological diseases panel _v.2.0

CGC Genetics Unilabs
Portugal
1344
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 49

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.