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Results: 21 to 40 of 45

Tests names and labsConditionsGenes, analytes, and microbesMethods

Congenital Ichthyosis Slice

GeneDx
United States
149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Deafness Panel (Expanded)

Mendelics
Brazil
1104
  • C Sequence analysis of the entire coding region

ICHTHYOSIFORM ERYTHRODERMA CONGENITAL EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
160
  • E Sequence analysis of select exons

ICTHYOSIS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
160
  • E Sequence analysis of select exons

Ichthyosis panel. 31-gene NGS panel.

Genologica Medica
Spain
5831
  • C Sequence analysis of the entire coding region

Palmoplantar keratoderma panel. 25-gene NGS panel.

Genologica Medica
Spain
6225
  • 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

Mosaic Carrier Test    

GeneDx
United States
11040
  • T Targeted variant analysis

Two Known Familial Variants in a Nuclear Gene

GeneDx
United States
11043
  • T Targeted variant analysis

Microcephaly Xpanded Panel

GeneDx
United States
1877
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

One Known Familial Variant in a Nuclear Gene

GeneDx
United States
11045
  • T Targeted variant analysis

GJB4

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

NewbornDx Advanced Sequencing Evaluation

Athena Diagnostics
United States
11722
  • C Sequence analysis of the entire coding region

Erythrokeratodermia variabilis et progressiva: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
55
  • C Sequence analysis of the entire coding region

Ichthyosis NGS Panel

Fulgent Genetics
United States
9843
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Palmoplantar Keratoderma Panel

Blueprint Genetics
Finland
225
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ERYTHROKERATODERMIA VARIABILIS, MENDES DA COSTA TYPE

Laboratorio de Genetica Clinica SL
Spain
12
  • C Sequence analysis of the entire coding region

Ichthyosis Panel

Blueprint Genetics
Finland
231
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 45

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.