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Results: 21 to 40 of 92

Tests names and labsConditionsGenes, analytes, and microbesMethods

CustomNext-Cardio®

Ambry Genetics
United States
236167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CardioNext®

Ambry Genetics
United States
18992
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Proximal 22Q Gene deletion/duplication

Molecular Diagnostics Children's Hospital of Wisconsin
United States
22
  • D Deletion/duplication analysis

Invitae Autoinflammatory and Autoimmunity Syndromes Panel

Invitae
United States
223154
  • D Deletion/duplication analysis

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel

Invitae
United States
177130
  • D Deletion/duplication analysis

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

22q11.2 Deletion/Duplication, FISH

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

Invitae Congenital Heart Disease Panel

Invitae
United States
10755
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Constitutional Chromosomal Microarray Analysis

Clinical Genomics Laboratory Laboratory for Precision Diagnostics, University of Washington
United States
261
  • D Deletion/duplication analysis

22q11 deletion syndrome FISH

Cytogenetics Laboratory University Of Washington
United States
11
  • I FISH-interphase
  • M FISH-metaphase

Microarray Testing

Cytogenetics Laboratory SUNY Upstate Medical University
United States
1141
  • 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

Deletion 22q11.2, TUPLE1

UW Cytogenetic Services Wisconsin State Laboratory of Hygiene
United States
21
  • I FISH-interphase
  • M FISH-metaphase
  • D Deletion/duplication analysis

22Q11.2 Del/Dup

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
41
  • D Deletion/duplication analysis

TBX1

Institute for Human Genetics University Medical Center Freiburg
Germany
41
  • C Sequence analysis of the entire coding region

Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
330746
  • T Targeted variant analysis

GeneSeq PLUS

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

Partner Reflex to GeneSeq

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

GeneSeq: Cardio - Familial Congenital Heart Disease Panel

Integrated Genetics Westborough LabCorp
United States
817
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 92

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.