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Results: 1 to 20 of 33

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Neurodevelopmental Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
404241
  • D Deletion/duplication analysis

Invitae Overgrowth Syndromes Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
9653
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mental retardation, X-linked, syndromic 34, 300967, X-linked; MRXS34 (Macrocephaly-intellectual disability-left ventricular non compaction syndrome) (NONO gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Mental retardation, X-linked, syndromic 34, 300967, X-linked; MRXS34 (Macrocephaly-intellectual disability-left ventricular non compaction syndrome) (NONO gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Overgrowth and Macrocephaly Syndromes Panel

PreventionGenetics, part of Exact Sciences
United States
145112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Syndromic X-linked intellectual Disability Type 34, via the NONO 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

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

Macrocephaly Panel

Genetic Services Laboratory University of Chicago
United States
2668
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy

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

Intellectual Disability Panel

CGC Genetics Unilabs
Portugal
11307
  • 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

Cardiovascular panel _v.2.0

CGC Genetics Unilabs
Portugal
1264
  • C Sequence analysis of the entire coding region

Congenital Heart Defects Panel 

CGC Genetics Unilabs
Portugal
1208
  • C Sequence analysis of the entire coding region

Cardiomyopathy panel_v.2.0

CGC Genetics Unilabs
Portugal
1203
  • 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

Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
330746
  • T Targeted variant analysis

Targeted Variant, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292746
  • T Targeted variant analysis

GeneSeq PLUS

Integrated Genetics Westborough LabCorp
United States
287578
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneSeq PLUS, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292597
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 33

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.