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Results: 1 to 12 of 12

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, 137940, Autosomal dominant; HLTRS (Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome) (SOX18 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

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, 137940, Autosomal dominant; HLTRS (Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome) (SOX18 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

Invitae Expanded Renal Disease Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Non-Immune Hydrops Fetalis Panel

PreventionGenetics, part of Exact Sciences
United States
291148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Ectodermal Dysplasia and Related Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
14873
  • D Deletion/duplication analysis

Vascular malformations panel. 14-gene NGS panel.

Genologica Medica
Spain
3814
  • C Sequence analysis of the entire coding region

Lymphatic malformations and related disorders panel. NGS panel of 11 genes.

Genologica Medica
Spain
3111
  • 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

SOX18

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • 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

Results: 1 to 12 of 12

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.