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Results: 21 to 40 of 97

Tests names and labsConditionsGenes, analytes, and microbesMethods

X-Linked Intellectual Disability Panel

PreventionGenetics, part of Exact Sciences
United States
191141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Aarskog-Scott Syndrome via the FGD1 Gene

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

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

Epilepsy Panel 

CGC Genetics Unilabs
Portugal
1832
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

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

Limb reduction defects (WES based NGS panel of 141 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1141
  • C Sequence analysis of the entire coding region

Clefting (WES based NGS panel of 231 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1231
  • C Sequence analysis of the entire coding region

Syndromes with short stature (WES based NGS panel of 104 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1104
  • C Sequence analysis of the entire coding region

X-linked Intellectual Disability Panel 

CGC Genetics Unilabs
Portugal
1104
  • C Sequence analysis of the entire coding region

Noonan and RASopathies Panel  

CGC Genetics Unilabs
Portugal
134
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias and Disorders Panel 

CGC Genetics Unilabs
Portugal
1606
  • C Sequence analysis of the entire coding region

Aarskog syndrome (deletion/duplication analysis on FGD1 gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Aarskog syndrome (sequence analysis of FGD1 gene)

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

Genomic Unity® X-Linked Intellectual Disability Plus Analysis

Variantyx, Inc.
United States
1108
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Clinically Recognized Syndromes Panel

Mendelics
Brazil
1236
  • C Sequence analysis of the entire coding region

X-LINKED INTELLECTUAL DISABILITY EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1143
  • E Sequence analysis of select exons

EPILEPSY EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1696
  • E Sequence analysis of select exons

SHORT STATURE EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1152
  • E Sequence analysis of select exons

SKELETAL DYSPLASIAS PANEL

Laboratorio de Genetica Clinica SL
Spain
1643
  • E Sequence analysis of select exons

SUDDEN DEATH/ IDIOPATHIC VENTRICULAR FIBRILLATION EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1394
  • E Sequence analysis of select exons

Results: 21 to 40 of 97

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.