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Results: 1 to 20 of 62 (representing 46 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
  • 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

Velocardiofacial Syndrome , Deletions TBX1 Gene

Reference Laboratory Genetics
Spain
11
  • D Deletion/duplication analysis

Invitae Syndromic Combined Immunodeficiency (CID) Panel

Invitae
United States
5637
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Monogenic Autoimmunity Panel

Invitae
United States
10973
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Panoroma Non-invasive Prenatal Test

LifeLabs Genetics
Canada
66
  • T Targeted variant analysis

Invitae Congenital Heart Disease Panel

Invitae
United States
6942
  • 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

22q11 deletion- Del/Dup analysis

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

Invitae Congenital Heart Defects and Heterotaxy Panel

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

TBX1 Gene Sequencing

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

Results: 1 to 20 of 62

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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