Filters

See more specimen types...

Other countries

Results: 1 to 20 of 42 (representing 13 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

Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML) NextGen Sequencing (NGS) 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
810
  • 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

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

Invitae Myelodysplastic Syndrome/Leukemia Panel

Invitae
United States
2621
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Pediatric Hematologic Malignancies Panel

Invitae
United States
2016
  • D Deletion/duplication analysis
  • 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

ACD

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
271
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RTEL1

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
731
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PARD6A

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 42

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.

Support Center