U.S. flag

An official website of the United States government

Filters

Test type

Test purpose

Test method

Test service

Laboratory certification

Specimen type

Laboratory location

Other countries

Results: 1 to 4 of 4

Tests names and labsConditionsGenes, analytes, and microbesMethods

Developmental delay with short stature, dysmorphic features, and sparse hair, 616901, Autosomal recessive (Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome) (DPH1 gene) (Sequence Analysis-All Coding Exons) (Postna

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

Developmental delay with short stature, dysmorphic features, and sparse hair, 616901, Autosomal recessive (Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome) (DPH1 gene) (Sequence Analysis-All Coding Exons) (Prenat

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

Craniofacial Panel

Genetic Services Laboratory University of Chicago
United States
3135
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Developmental delay with short stature, dysmorphic facial features, and sparse hair: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Results: 1 to 4 of 4

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.