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Results: 21 to 40 of 69

Tests names and labsConditionsGenes, analytes, and microbesMethods

Papillon-Lefevre Syndrome (PLS) via the CTSC Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Metabolic Diseases Panel

CGC Genetics Unilabs
Portugal
1837
  • C Sequence analysis of the entire coding region

Movement diseases (WES based NGS panel of 931 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
10930
  • C Sequence analysis of the entire coding region

Hereditary neutropenia (WES based NGS panel of 35 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
135
  • C Sequence analysis of the entire coding region

Immune Disorders Panel

CGC Genetics Unilabs
Portugal
1385
  • C Sequence analysis of the entire coding region

Dermatology Panel 

CGC Genetics Unilabs
Portugal
1277
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias and Disorders Panel 

CGC Genetics Unilabs
Portugal
1606
  • C Sequence analysis of the entire coding region

Papillon-Lefevre syndrome , Haim-Munk syndrome , Juvenile Periodontitis 1 (sequence analysis of CTSC gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Haim-Munk syndrome Papillon-Lefevre syndrome Periodontitis 1, juvenile (deletion/duplication analysis of CTSC gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

HEREDITARY ATAXIAS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
11202
  • E Sequence analysis of select exons

SKELETAL DYSPLASIAS PANEL

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

MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES)

Laboratorio de Genetica Clinica SL
Spain
11372
  • E Sequence analysis of select exons

BONE MARROW FAILURE SYNDROME PANEL

Laboratorio de Genetica Clinica SL
Spain
1165
  • E Sequence analysis of select exons

CONGENITAL NEUTROPENIA SYNDROME PANEL

Laboratorio de Genetica Clinica SL
Spain
138
  • E Sequence analysis of select exons

ECTODERMAL DYSPLASIA EXOME PANEL

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

Panel of lysosomal disorders and mucopolysaccharidosis. NGS panel of 102 genes.

Genologica Medica
Spain
175102
  • C Sequence analysis of the entire coding region

Bone marrow failure syndrome panel. NGS panel of 122 genes.

Genologica Medica
Spain
194122
  • 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

Congenital neutropenia panel. NGS panel of 26 genes.

Genologica Medica
Spain
3525
  • C Sequence analysis of the entire coding region

Amelogenesis

Bioarray
Spain
1172
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 69

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.