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Results: 21 to 40 of 258

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

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

Invitae
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae FMR1-Carrier

Invitae
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Infertility Panel

Centogene AG - the Rare Disease Company
Germany
243238
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Carrier Screening Fragile-X Screening

Ambry Genetics
United States
21
  • T Targeted variant analysis

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Fragile X - Related Disorders, Diagnostic

Invitae
United States
51
  • T Targeted variant analysis

Intellectual Disability exome

Genetic Services Laboratory University of Chicago
United States
6216
  • D Deletion/duplication analysis
  • 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

Fragile X syndrome, 300624, X-linked dominant (Fragile X syndrome) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Fragile X tremor/ataxia syndrome, 300623, X-linked dominant; FXTAS (Fragile X-associated tremor/ataxia syndrome) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Fragile X tremor/ataxia syndrome, 300623, X-linked dominant; FXTAS (Fragile X-associated tremor/ataxia syndrome)(Repeat Analysis)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • T Targeted variant analysis

Fragile X syndrome, 300624, X-linked dominant (Fragile X syndrome)(Repeat Analysis)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • T Targeted variant analysis

Results: 21 to 40 of 258

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.