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Results: 1 to 20 of 92

Tests names and labsConditionsGenes, analytes, and microbesMethods

Telomere Disorders Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
3018
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PARN Gene Dyskeratosis congenita, autosomal recessive type 6 NGS Genetic DNA Test

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

PARN Gene Pulmonary fibrosis and/or bone marrow failure, telomere-related, type 4 NGS Genetic DNA Test

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

NGS Panel for Dyskeratosis congenita

BloodGenetics
Spain
1216
  • C Sequence analysis of the entire coding region

NGS Panel for Bone Marrow failure

BloodGenetics
Spain
5769
  • C Sequence analysis of the entire coding region

PARN - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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

Pulmonary Panel

Centogene AG - the Rare Disease Company
Germany
99101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bone Marrow Failure / Anemia Panel

Centogene AG - the Rare Disease Company
Germany
212212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoSkin Panel

Centogene AG - the Rare Disease Company
Germany
157151
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Invitae Telomere Biology Disorders Panel

Invitae
United States
2213
  • D Deletion/duplication analysis

Invitae Surfactant Metabolism Panel

Invitae
United States
4019
  • D Deletion/duplication analysis

Invitae Hypopigmentation Panel

Invitae
United States
8346
  • D Deletion/duplication analysis

Invitae Neonatal Respiratory Distress Panel

Invitae
United States
163111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MarrowZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
250155
  • C Sequence analysis of the entire coding region

Dyskeratosis congenita NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dyskeratosis congenita Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dyskeratosis congenita Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Inherited Bone Marrow Failure Panel

PreventionGenetics, part of Exact Sciences
United States
267186
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 92

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.