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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

PTPN14 Gene Choanal atresia and lymphedema NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Congenital Anomalies of the Gastrointestinal Tract Panel

PreventionGenetics, part of Exact Sciences
United States
297180
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Choanal atresia and lymphedema, 613611, Autosomal recessive (Lymphedema-posterior choanal atresia syndrome) (PTPN14 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Choanal atresia and lymphedema, 613611, Autosomal recessive (Lymphedema-posterior choanal atresia syndrome) (PTPN14 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Lymphedema Panel

PreventionGenetics, part of Exact Sciences
United States
1514
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Vascular Anomalies Panel with interpretation

Clinical Genomics Laboratory Washington University in St. Louis
United States
165
  • C Sequence analysis of the entire coding region

Lymphedema hereditary (WES based NGS panel of 22 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
122
  • C Sequence analysis of the entire coding region

HEREDITARY HEMORRHAGIC TELANGIECTASIA EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
110
  • E Sequence analysis of select exons

Choanal atresia and lymphedema: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • 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

Lymphedema Sequencing Panel

Seattle Children's Hospital Genetics Laboratories Seattle Children's
United States
2925
  • C Sequence analysis of the entire coding region

Vascular Anomalies (VANseq) Expanded Del/Dup Panel

Seattle Children's Hospital Genetics Laboratories Seattle Children's
United States
5047
  • D Deletion/duplication analysis

Vascular Anomalies (VANseq) Expanded Sequencing Panel

Seattle Children's Hospital Genetics Laboratories Seattle Children's
United States
5047
  • 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

Vascular Malformation NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
3421
  • C Sequence analysis of the entire coding region

Lymphedema NGS Multi-Gene Panel (36 Genes)

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
336
  • C Sequence analysis of the entire coding region

PTPN14 Single Gene

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

Somatic Overgrowth Panel with interpretation

Clinical Genomics Laboratory Washington University in St. Louis
United States
8649
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Primary lymphedema and Hydrops fetalis (27 genes)

Center for Human Genetics Cliniques Universitaires Saint Luc
Belgium
1425
  • E Sequence analysis of select exons

Results: 1 to 20 of 20

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.