U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 20 of 21

Tests names and labsConditionsGenes, analytes, and microbesMethods

HDAC8 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
31
  • C Sequence analysis of the entire coding region

NIPBL mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
21
  • C Sequence analysis of the entire coding region

SMC1A mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
21
  • C Sequence analysis of the entire coding region

EPISign Whole Genome Methylation Assay

Molecular Genetics Laboratory London Health Sciences Centre
Canada
191
  • M Methylation analysis

PGmax™ - Comprehensive Congenital Heart Disease Panel

PreventionGenetics, part of Exact Sciences
United States
241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Custom Panel (Multiple Malformations/Anomalies Syndromes)

PreventionGenetics, part of Exact Sciences
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Limb Malformation Panel

PreventionGenetics, part of Exact Sciences
United States
10399
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PGmax™ - Skeletal Disorders and Joint Problems Panel

PreventionGenetics, part of Exact Sciences
United States
111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

EpiSign Variant

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
341
  • M Methylation analysis

Rubinstein-Taybi Syndrome Panel

Genetic Services Laboratory University of Chicago
United States
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiSign Complete

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
341
  • M Methylation analysis

Limb Abnormalities and Reduction Defects Panel

GeneDx
United States
2476
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Limb Malformations Panel

Blueprint Genetics
Finland
445
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cornelia de Lange Syndrome Panel

Blueprint Genetics
Finland
15
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TAF6 Single Gene

Fulgent Genetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KMT2A Single Gene

Fulgent Genetics
United States
371
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cornelia de Lange and Related Disorders Panel

Genetic Services Laboratory University of Chicago
United States
1231
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

180K CGH+SNP microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
2311
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Cornelia de Lange syndrome

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Cohesinopathies (Cornelia de Lange Syndrome)

MGZ Medical Genetics Center
Germany
55
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 21

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.