Filters

See more specimen types...

Other countries

Results: 1 to 18 of 18 (representing 10 labs)

Tests names and labsConditionsGenes and analytesMethods

22q11 deletion syndrome (MLPA´s)

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
41
  • D Deletion/duplication analysis

Congenital heart diseases Panel

Health in Code
Spain
176
  • C Sequence analysis of the entire coding region

Congenital Heart Diseases Panel

Health in Code
Spain
139
  • C Sequence analysis of the entire coding region

NKX2.5 Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • S Mutation scanning of the entire coding region

Ventricular Septal Defects, Tetralogy of Fallot via the FOXH1 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ciliopathy Sequencing Panel

PreventionGenetics
United States
9293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel

PreventionGenetics
United States
3336
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Heart Disease Panel

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
13
  • S Mutation scanning 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

NAA15

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Sarcoma Comprehensive Panel

Fulgent Genetics
United States
92026
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Cancer Panel

Fulgent Genetics
United States
1735124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nervous System / Brain Cancer Comprehensive Panel

Fulgent Genetics
United States
83725
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3052447
  • D Deletion/duplication analysis
  • 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

180K CGH+SNP microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
2341
  • D Deletion/duplication analysis
  • H Detection of homozygosity

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

Whole Exome Sequencing

McBride Research Laboratory Nationwide Children's Hospital Research Institute
United States
22
  • C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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