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Results: 1 to 20 of 27

Tests names and labsConditionsGenes, analytes, and microbesMethods

HDAC8 mutation analysis

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

NIPBL mutation analysis

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

SMC1A mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
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

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

Prenatal Limb Abnormalities Panel

GeneDx
United States
95
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal disorders - different panels

Institute of Human Genetics Cologne University
Germany
875
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cornelia-de-Lange syndrome

Institute of Human Genetics Cologne University
Germany
21
  • D Deletion/duplication analysis

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

Mental retardation - different panels

Institute of Human Genetics Cologne University
Germany
72536
  • 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

HDAC8 Gene Sequencing and Deletion/Duplication Analysis

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 27

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.