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Results: 1 to 20 of 24 (representing 14 labs)

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
6021038
  • C Sequence analysis of the entire coding region

FoundationOne® Heme

Foundation Medicine, Inc.
United States
2405
  • D Deletion/duplication analysis
  • R RNA analysis
  • E Sequence analysis of select exons
  • 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

Congenital Disorders of Glycosylation Panel

Baylor Genetics
United States
3027
  • E Sequence analysis of select exons

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
845637
  • D Deletion/duplication analysis

Non-Syndromic Autosomal Recessive Mental Retardation via the TUSC3 Gene

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

Non-Specific Intellectual Disability Panel

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

Congenital Disorders of Glycosylation

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health and Science University
United States
234
  • C Sequence analysis of the entire coding region

Congenital disorder of N-linked glycosylation (CDG)

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
2222
  • E Sequence analysis of select exons

Congenital disorder of multiple glycosylation (CDG)

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

IDNext

Ambry Genetics
United States
12140
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neurodevelopment-Expanded

Ambry Genetics
United States
105196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NGS Congenital Disorders of Glycosylation (CDGs) Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
1101
  • C Sequence analysis of the entire coding region

Congenital Disorders of Glycosylation (CDG)

Medizinisch Genetisches Zentrum München MGZ München
Germany
438
  • C Sequence analysis of the entire coding region

TUSC3

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

devSEEK® Sequence Analysis for Neurodevelopmental Disorders

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
261201
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

devACT® Next Generation Sequencing panel focused on genes that inform actionable clinical management of patients with Developmental Delay, Intellectual Disability, and Autism Spectrum Disorders

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
297248
  • L Linkage analysis
  • C Sequence analysis of the entire coding region

Congenital Disorders of Glycosylation: Gene Sequencing and Deletion/Duplication Panel

Emory Genetics Laboratory Emory University School of Medicine
United States
8566
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
752392
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Disorders of Glycosylation NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
4438
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 24

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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