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Results: 1 to 20 of 53 (representing 18 labs)

Tests names and labsConditionsGenes and analytesMethods

Dyskeratosis congenita, AD type 1

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

Dyskeratosis congenita, AD type 1

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

Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
2321
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PulmoGene Panel (64 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
6964
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Basic Fibrosis Panel (12 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
1212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Interstitial Lung Disease Sequencing Panel

PreventionGenetics
United States
2624
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML) Sequencing Panel

PreventionGenetics
United States
1010
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Tier 1: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL)

Genetic Services Laboratory University of Chicago
United States
1215
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TERC. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

TERT. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

TINF2. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

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

TERT-Related Dyskeratosis Congenita

Ambry Genetics
United States
11
  • C Sequence analysis of the entire coding region

TERC-Related Dyskeratosis Congenita

Ambry Genetics
United States
11
  • C Sequence analysis of the entire coding region

TINF2-Related Dyskeratosis Congenita

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

Hermansky-Pudlak and Pulmonary Fibrosis Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
2325
  • C Sequence analysis of the entire coding region

Comprehensive Pulmonary Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
9293
  • C Sequence analysis of the entire coding region

Congenital Dyskeratosis , Sequencing TERC Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

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

Results: 1 to 20 of 53

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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