Filters

See more specimen types...
See more states

Other countries

See more countries

Results: 1 to 20 of 57 (representing 43 labs)

Tests names and labsConditionsGenes and analytesMethods

Congenital heart defects panel

Centogene AG - the Rare Disease Company
Germany
2612
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • H Detection of homozygosity
  • D Deletion/duplication analysis
  • H Detection of homozygosity

22q11 microdeletion syndrome - FISH analysis

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
43
  • F Fluorescence in situ hybridization (FISH)

22q11.2 Deletion/Duplication, FISH

Mayo Clinic Genetic Testing Laboratories Mayo Clinic
United States
21
  • I FISH-interphase

Constitutional Cytogenomic Microarray Analysis

Clinical Cytogenomics Laboratory University of Washington
United States
261
  • D Deletion/duplication analysis

22q11 deletion syndrome FISH

Cytogenetics and Genomics Laboratory University of Washington
United States
11
  • I FISH-interphase
  • M FISH-metaphase

Microarray Testing

Cytogenetics Laboratory SUNY Upstate Medical University
United States
1151
  • F Fluorescence in situ hybridization (FISH)

FISH, DiGeorge, Velocardio Facial Syndrome (VCFS)

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
21
  • M FISH-metaphase

FISH, DiGeorge, Velocardio Facial Syndrome (VCFS)

Quest Diagnostics Nichols Institute Chantilly
United States
21
  • M FISH-metaphase

TBX1 Sequencing

Heart Institute Diagnostic Lab Cincinnati Children's Hospital Medical Center
United States
11
  • S Mutation scanning of the entire coding region

Deletion 22q11.2, TUPLE1

UW Cytogenetic Services University of Wisconsin - Madison / WSLH
United States
21
  • I FISH-interphase
  • M FISH-metaphase
  • D Deletion/duplication analysis

Panoroma Non-invasive Prenatal Test

LifeLabs Genetics
Canada
66
  • T Targeted variant analysis

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3053447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

22q11 deletion- Del/Dup analysis

Genome Diagnostics VU University Medical Center
Netherlands
21
  • D Deletion/duplication analysis
  • T Targeted variant analysis

TBX1 Gene Sequencing

GeneDx
United States
21
  • C Sequence analysis of the entire coding region

Congenital Heart Defects Panel

CeGaT GmbH
Germany
4244
  • C Sequence analysis of the entire coding region

TBX1 Deletion/duplication analysis

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
41
  • D Deletion/duplication analysis

Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
519
  • D Deletion/duplication analysis

TBX1

Fulgent Genetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DGCR2

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

Results: 1 to 20 of 57

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