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Results: 1 to 20 of 238

Tests names and labsConditionsGenes, analytes, and microbesMethods

Chromosomal Microarray

Genetics Laboratory Shodair Children's Hospital
United States
71
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Exome Sequencing

Genetic Services Laboratory University of Chicago
United States
11
  • C Sequence analysis of the entire coding region

Comparative genomic hybridization (aCGH-SNP)

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
41
  • D Deletion/duplication analysis
  • H Detection of homozygosity
  • U Uniparental disomy study (UPD)

Chromosomal microarray

Michigan Medical Genetics Laboratories University of Michigan
United States
181
  • D Deletion/duplication analysis

Invitae Fragile X - Related Disorders, Diagnostic

Invitae
United States
51
  • T Targeted variant analysis

Chromosomal SNP Microarry

Cytogenetics Laboratory SUNY Upstate Medical University
United States
823
  • H Detection of homozygosity

Custom Panel (Intellectual Disability)

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Familial Targeted Microarray

Ambry Genetics
United States
31
  • D Deletion/duplication analysis

Genomic Unity Intellectual Disability Analysis

Variantyx, Inc.
United States
314
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

SNP Array

Ambry Genetics
United States
31
  • D Deletion/duplication analysis

PGmax™ - Intellectual Disability, Epilepsy, and Autism (IDEA) Panel

PreventionGenetics, part of Exact Sciences
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Constitutional Chromosomal Microarray Analysis

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

SNP Microarray

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
41
  • H Detection of homozygosity

Childrens Intellectual Disability Panel

Children's Hospital Colorado Precision Diagnostics Laboratory Children's Hospital Colorado
United States
41
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

CGC Genetics Unilabs
Portugal
11293
  • C Sequence analysis of the entire coding region

Chromosomal microarray analysis (aCGH, Cytoscan HD)

CGC Genetics Unilabs
Portugal
51
  • K Karyotyping

Chromosomal microarray analysis (aCGH, Cytoscan 750K)

CGC Genetics Unilabs
Portugal
51
  • K Karyotyping

Chromosomal microarray analysis (aCGH, Cytoscan 750K), familial study

CGC Genetics Unilabs
Portugal
51
  • K Karyotyping

Chromosomal microarray analysis (aCGH, Cytoscan HD), familial study

CGC Genetics Unilabs
Portugal
51
  • K Karyotyping

Results: 1 to 20 of 238

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.