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Results: 21 to 40 of 181

Tests names and labsConditionsGenes, analytes, and microbesMethods

Rapid microarray (CGH and SNP)

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

qChip 60k prenatal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

Xpansion Interpreter

Asuragen Clinical Laboratory Asuragen, Inc
United States
21
  • T Targeted variant analysis

fragile-X syndrome molecular diagnostics

Laboratoire de Diagnostic Moleculaire Hopital Saint-Francois d'Assise du CHU de Québec UL
Canada
11
  • M Methylation analysis
  • T Targeted variant analysis

OGM-Dx Postnatal Whole Genome SV

Bionano Laboratories
United States
61
  • K Karyotyping

Invitae FMR1-Fragile X Syndrome and Related Disorders Repeat Expansion Test

Labcorp Genetics (formerly Invitae) LabCorp
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae FMR1-Carrier

Labcorp Genetics (formerly Invitae) LabCorp
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Genomic Unity® Genome-wide CNV and FMR1 Analysis

Variantyx, Inc.
United States
52
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

FMR1 - Repeat expansion analysis

Centogene AG - the Rare Disease Company
Germany
31
  • T Targeted variant analysis

FMR1 - MLPA

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis

FMR1 - Sanger sequencing

Centogene AG - the Rare Disease Company
Germany
31
  • C Sequence analysis of the entire coding region

Autism Spectrum Disorders (ASD) Panel

PreventionGenetics, part of Exact Sciences
United States
224170
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qChip 180

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

Fragile X Analysis (PCR only)

IU Genetic Testing Laboratories Indiana University School of Medicine
United States
11
  • T Targeted variant analysis

Invitae Broad Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
224112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Core Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
67
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Fragile X Syndrome

Myriad Genetics, Inc.
United States
11
  • T Targeted variant 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

Fragile X Syndrome

Genetics Center
United States
11
  • T Targeted variant analysis

Results: 21 to 40 of 181

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.