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Results: 1 to 20 of 40 (representing 22 labs)

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

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

Mental retardation, X-linked type 16

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

Faciogenital dysplasia

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • 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

Aarskog-Scott Syndrome via the FGD1 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Short Stature Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
1610
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qGenEx Craniofacial Anomalies

Quantitative Genomic Medicine Laboratories, SL
Spain
135136
  • C Sequence analysis of the entire coding region

Charcot-Marie-Tooth Syndrome

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health and Science University
United States
534
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3052447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Idiopathic Generalized Epilepsy NGS Panel

Fulgent Genetics
United States
106789
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Aarskog-Scott syndrome

Bioarray
Spain
11
  • 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

Aarskog syndrome (sequence analysis of FGD1 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Single gene testing FGD1

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Aarskog syndrome (deletion/duplication analysis of FGD1 gene)

CGC Genetics
Portugal
11
  • D Deletion/duplication analysis

FGD1

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
143141
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing Evaluation - Epilepsy in X-Linked Intellectual Disability

Athena Diagnostics Inc
United States
2727
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 40

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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