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Results: 1 to 20 of 29 (representing 15 labs)

Tests names and labsConditionsGenes and analytesMethods

Kleefstra syndrome

Ambry Genetics
United States
11
  • D Deletion/duplication analysis
  • 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

Kleefstra syndrome

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Chromosomal microarray

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
2361
  • H Detection of homozygosity
  • M FISH-metaphase
  • K Karyotyping
  • D Deletion/duplication analysis
  • H Detection of homozygosity
  • U Uniparental disomy study (UPD)

Microarray Testing

Cytogenetics Laboratory SUNY Upstate Medical University
United States
1151
  • F Fluorescence in situ hybridization (FISH)

Kleefstra Syndrome via the EHMT1 Gene

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

Rett/Angelman Syndrome Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
2123
  • C Sequence analysis of the entire coding region

Rett/Angelman Syndrome Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
1920
  • D Deletion/duplication analysis

Angelman/ Rett Seq + Del/Dup

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1718
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Angelman/Rett Del/Dup

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1717
  • D Deletion/duplication analysis

Angelman/Rett Seq

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1718
  • C Sequence analysis of the entire coding region

Invitae Rett and Angelman Syndromes and Related Disorders Panel

Invitae
United States
2822
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Epilepsy Panel

Invitae
United States
156125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Rett/Atypical Rett/Angelman

Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center
United States
2716
  • 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

qChip

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

Kleefstra syndrome (deletion/duplication analysis of EHMT1 gene)

CGC Genetics
Portugal
11
  • D Deletion/duplication analysis

Kleefstra syndrome (sequence analysis of EHMT1 gene)

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

EHMT1

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

Results: 1 to 20 of 29

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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