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Results: 1 to 19 of 19 (representing 11 labs)

Tests names and labsConditionsGenes and analytesMethods

Dyskeratosis congenita, AR type 2

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

Dyskeratosis Congenita (DC) via the NHP2 Gene

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

Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel

PreventionGenetics
United States
108
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

NHP2-Related Dyskeratosis Congenita

Ambry Genetics
United States
11
  • E Sequence analysis of select exons

Invitae Syndromic Combined Immunodeficiency (CID) Panel

Invitae
United States
5637
  • 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

DYSKERATOSIS CONGENITA (AUTOSOMAL RECESSIVE)

Laboratorio de Genetica Clinica SL
Spain
44
  • C Sequence analysis of the entire coding region

Invitae Bone Marrow Failure Syndromes Panel

Invitae
United States
4939
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Dyskeratosis Congenita Panel

Invitae
United States
97
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Telomere Shortening Disorders Spectrum NGS Panel

Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dyskeratosis congenita (NGS panel for 8 genes)

CGC Genetics
Portugal
88
  • C Sequence analysis of the entire coding region

Dyskeratosis congenita 2 AR(sequence analysis of NHP2 gene)

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

Dyskeratosis congenita Panel

CeGaT GmbH
Germany
810
  • C Sequence analysis of the entire coding region

Disorders associated with malignancy Panel

CeGaT GmbH
Germany
2645
  • C Sequence analysis of the entire coding region

NOLA2 (NHP2) Deletion/duplication analysis

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

NHP2

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

NOLA2 (NHP2) Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Intellectual Disability NGS Panel

Fulgent Genetics
United States
752392
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dyskeratosis Congenita NGS Panel

Fulgent Genetics
United States
158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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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