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Results: 21 to 40 of 46

Tests names and labsConditionsGenes, analytes, and microbesMethods

Xeroderma Pigmentosum Panel

PreventionGenetics, part of Exact Sciences
United States
119
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Xeroderma Pigmentosum via the ERCC4 Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Limb malformation panel. NGS panel of 45 genes.

Genologica Medica
Spain
7745
  • C Sequence analysis of the entire coding region

Bone marrow failure syndrome panel. NGS panel of 122 genes.

Genologica Medica
Spain
194122
  • C Sequence analysis of the entire coding region

Dermatological. Full panel

Genologica Medica
Spain
12268
  • C Sequence analysis of the entire coding region

Xeroderma pigmentosum panel

Genologica Medica
Spain
159
  • C Sequence analysis of the entire coding region

Progeria panel. 17-gene NGS panel.

Genologica Medica
Spain
4817
  • C Sequence analysis of the entire coding region

Fanconi anemia panel

Genologica Medica
Spain
3522
  • C Sequence analysis of the entire coding region

Aplastic Anemia Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
6439
  • C Sequence analysis of the entire coding region

Bone Marrow Failure Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
9562
  • C Sequence analysis of the entire coding region

Comprehensive Glomerular Proteinuria NGS Panel

Fulgent Genetics
United States
18276
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Progeria Syndrome NGS Panel

Fulgent Genetics
United States
4216
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bone Marrow Failure NGS Panel

Fulgent Genetics
United States
18060
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Primary Immunodeficiency NGS Panel

Fulgent Genetics
United States
1048472
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

XERODERMA PIGMENTOSUM

Laboratorio de Genetica Clinica SL
Spain
89
  • C Sequence analysis of the entire coding region

Full Comprehensive Cancer Panel

Fulgent Genetics
United States
329127
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Progeria syndromes Panel

CeGaT GmbH
Germany
2018
  • C Sequence analysis of the entire coding region

Single gene testing ERCC4

CeGaT GmbH
Germany
31
  • C Sequence analysis of the entire coding region

Ataxia and differential diagnoses Panel

CeGaT GmbH
Germany
173204
  • C Sequence analysis of the entire coding region

Xeroderma pigmentosum Panel

CeGaT GmbH
Germany
108
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 46

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.