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Results: 21 to 39 of 39

Tests names and labsConditionsGenes, analytes, and microbesMethods

Diseases of sexual development (WES based NGS panel of 46 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
146
  • C Sequence analysis of the entire coding region

Ichthyosis and Ectodermal Dysplasia Panel

Mendelics
Brazil
258
  • C Sequence analysis of the entire coding region

CRANIOSYNOSTOSIS PANEL

Laboratorio de Genetica Clinica SL
Spain
185
  • E Sequence analysis of select exons

SKELETAL DYSPLASIAS PANEL

Laboratorio de Genetica Clinica SL
Spain
1643
  • E Sequence analysis of select exons

ECTODERMAL DYSPLASIA EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1110
  • E Sequence analysis of select exons

Craniosynostosis panel. NGS panel of 37 genes.

Genologica Medica
Spain
11337
  • C Sequence analysis of the entire coding region

Barber-Say syndrome: Full gene sequencing

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

Ablepharon-macrostomia syndrome: 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

Prenatal Known Familial Mutation

GeneDx
United States
11716
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Custom XomeDxSlice (2-150 Genes, Proband Only)

GeneDx
United States
11718
  • D Deletion/duplication analysis
  • 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

Focal facial dermal dysplasia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
22
  • C Sequence analysis of the entire coding region

Craniosynostosis Panel

Blueprint Genetics
Finland
137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CAKUT

Hildebrandt Laboratory Boston Children's Hospital
United States
2204
  • C Sequence analysis of the entire coding region

Focal facial dermal dysplasia 3, Setleis type

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel

CeGaT GmbH
Germany
2955
  • C Sequence analysis of the entire coding region

TWIST2 Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 39 of 39

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.