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Results: 1 to 12 of 12

Tests names and labsConditionsGenes, analytes, and microbesMethods

Charcot-Marie-Tooth disease type 2F (CMT2F, sequence analysis of HSPB1 gene)

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

NGS Panel for Dyskeratosis congenita

BloodGenetics
Spain
1116
  • C Sequence analysis of the entire coding region

NGS Panel for Bone Marrow failure

BloodGenetics
Spain
5669
  • C Sequence analysis of the entire coding region

Immune Disorders Panel

CGC Genetics Unilabs
Portugal
1385
  • C Sequence analysis of the entire coding region

Congenital dyskeratosis panel. NGS panel of 13 genes.

Genologica Medica
Spain
1913
  • C Sequence analysis of the entire coding region

Prenatal Known Familial Mutation

GeneDx
United States
11716
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Custom XomeDxSlice (2-150 Genes, Proband Only)

GeneDx
United States
11718
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Primary Immunodeficiency NGS Panel

Fulgent Genetics
United States
1048473
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dyskeratosis Congenita Panel

Blueprint Genetics
Finland
313
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Primary Immunodeficiency Panel

Blueprint Genetics
Finland
2275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hematology Panel

Blueprint Genetics
Finland
4239
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DCLRE1B Single Gene

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

Results: 1 to 12 of 12

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.