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Results: 1 to 20 of 41 (representing 22 labs)

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7851205
  • C Sequence analysis of the entire coding region

Mental retardation, X-linked, associated with fragile site FRAXE

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

X-Linked Intellectual Disability Sequencing Panel

PreventionGenetics
United States
8081
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

Non-Specific Intellectual Disability Panel

Genetic Services Laboratory University of Chicago
United States
1173
  • C Sequence analysis of the entire coding region

X-linked Developmental Delay Panel

Blueprint Genetics
Finland
194
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Syndromal Diseases - panels

Medizinisch Genetisches Zentrum München MGZ München
Germany
14342
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mental Retardation and Dysmorphology - panels

Medizinisch Genetisches Zentrum München MGZ München
Germany
15343
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Vascular and connective tissue diseases - panels

Medizinisch Genetisches Zentrum München MGZ München
Germany
367
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health and Science University
United States
287
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-linked Intellectual Disabilities Sequencing

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health and Science University
United States
388
  • C Sequence analysis of the entire coding region

X-Linked Intellectual Disabilities Deletion/Duplication

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health and Science University
United States
288
  • D Deletion/duplication analysis

Mental retardation, X-linked, non-syndromic

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
3531
  • C Sequence analysis of the entire coding region

Autsim Panel

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health and Science University
United States
1107
  • C Sequence analysis of the entire coding region

Mental retardation, X-linked (NGS panel for 89 genes)

CGC Genetics
Portugal
4989
  • C Sequence analysis of the entire coding region

X-linked mental retardation (deletion/duplication analysis, multiple genes)

CGC Genetics
Portugal
1516
  • D Deletion/duplication analysis

Mental retardation, X-linked, FRAXE type (AFF2 gene, msTP-PCR)

CGC Genetics
Portugal
11
  • M Methylation analysis

NGS XLID Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
1114
  • C Sequence analysis of the entire coding region

Brain Malformations / Neuronal Migration Disorders

Medizinisch Genetisches Zentrum München MGZ München
Germany
2266
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 41

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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