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Results: 21 to 40 of 51

Tests names and labsConditionsGenes, analytes, and microbesMethods

Autosomal Recessive Non-Specific Intellectual Disability Panel

Genetic Services Laboratory University of Chicago
United States
154
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

CGC Genetics Unilabs
Portugal
11307
  • C Sequence analysis of the entire coding region

Mental retardation type 5 AR (sequence analysis of NSUN2 gene)

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

HEREDITARY ATAXIAS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
11202
  • E Sequence analysis of select exons

HEREDITARY CANCER EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1249
  • E Sequence analysis of select exons

Hereditary pediatric cancer panel. NGS panel of 71 genes.

Genologica Medica
Spain
15871
  • C Sequence analysis of the entire coding region

Noonan syndrome panel. NGS panel of 22 genes.

Genologica Medica
Spain
4822
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

NSUN2 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

Congenital Hypotonia Xpanded Panel

GeneDx
United States
101423
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microcephaly Xpanded Panel

GeneDx
United States
1877
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autism/ID Xpanded Panel

GeneDx
United States
22592
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia Xpanded Panel

GeneDx
United States
1999
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiXpanded Panel

GeneDx
United States
11501
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Noonan and Comprehensive RASopathies Panel

GeneDx
United States
225
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Aplastic Anemia Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
6439
  • C Sequence analysis of the entire coding region

Intellectual Disability & Autism Spectrum Disorders Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
210139
  • C Sequence analysis of the entire coding region

NewbornDx Advanced Sequencing Evaluation

Athena Diagnostics
United States
11722
  • C Sequence analysis of the entire coding region

Mental retardation, autosomal recessive: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
4848
  • C Sequence analysis of the entire coding region

NOONAN-LIKE SYNDROME

Laboratorio de Genetica Clinica SL
Spain
26
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 51

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.