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Results: 1 to 11 of 11

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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • 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

Bone diseases panel_v.2.0

CGC Genetics Unilabs
Portugal
1662
  • 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

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

Congenital Hypotonia Xpanded Panel

GeneDx
United States
101423
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nonsyndromic Intellectual Disability (NGS Panel and Copy Number Analysis)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
19560
  • C Sequence analysis of the entire coding region

Autism/ID Xpanded Panel

GeneDx
United States
22592
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DPH1 Single Gene

Fulgent Genetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 11 of 11

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