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Results: 1 to 15 of 15

Tests names and labsConditionsGenes and analytesMethods

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

Ciliopathy Focus Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
219152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Heart Disease Panel

Invitae
United States
6942
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Heterotaxy

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
44
  • C Sequence analysis of the entire coding region

Invitae Congenital Heart Defects and Heterotaxy Panel

Invitae
United States
12882
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

VACTERL association, X-linked (sequence analysis of ZIC3 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

ZIC3

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

FANCB

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

Heterotaxy and Situs Inversus NGS Panel

Fulgent Genetics
United States
2820
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ciliopathies: Sequencing and Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
165112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

XLID NGS Panel

Fulgent Genetics
United States
187107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Cancer NGS Panel

Fulgent Genetics
United States
256112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital heart defects panel

Genome Diagnostics Laboratory University Medical Center Utrecht
Netherlands
7034
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Fanconi Anemia NGS Panel

Fulgent Genetics
United States
3616
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ciliopathies NGS Panel

Fulgent Genetics
United States
15895
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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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