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Results: 1 to 20 of 24

Tests names and labsConditionsGenes, analytes, and microbesMethods

Solid Tumor Panel

Centogene AG - the Rare Disease Company
Germany
218135
  • C Sequence analysis of the entire coding region

ATR - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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 Microcephalic Primordial Dwarfism and Seckel Syndrome Panel

Invitae
United States
4838
  • D Deletion/duplication analysis

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Cutaneous telangiectasia and cancer syndrome, familial, 614564, Autosomal dominant; FCTCS (Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome) (ATR gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Cutaneous telangiectasia and cancer syndrome, familial, 614564, Autosomal dominant; FCTCS (Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Seckel Syndrome, Primary Microcephaly and Familial Cutaneous Telangiectasia and Cancer Syndrome via the ATR 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

Microcephaly and cerebellar hypoplasia panel. 48-gene NGS panel.

Genologica Medica
Spain
6348
  • C Sequence analysis of the entire coding region

Fanconi anemia panel

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

Seckel syndrome panel. 6-gene NGS panel.

Genologica Medica
Spain
106
  • C Sequence analysis of the entire coding region

3M syndrome / primordial dwarfism panel. NGS panel of 24 genes.

Genologica Medica
Spain
3324
  • C Sequence analysis of the entire coding region

Cutaneous telangiectasia and cancer syndrome, familial: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

ATR Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • D Deletion/duplication analysis

3-M Syndrome NGS Panel

Fulgent Genetics
United States
2116
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia-Telangiectasia, Panel Massive Sequencing (NGS) ATM, ATR, MRE11A Genes

Reference Laboratory Genetics
Spain
33
  • 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

ATR Gene Sequencing and Deletion/Duplication Analysis

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 24

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.